Pubmed abstracts for Protein-Protein Interaction search result :

Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Here we investigated the effect of DSs on medial perforant path ( MPP ) granule cell evoked transmission in freely moving rats . ^^^ Using on line detection of the DS peak , the timing of MPP stimulation relative to single DSs was controlled . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
CMT1A patients were found to be more severely affected with more prolonged distal motor latency and more reduced CMAP amplitude , whereas MNCV did not significantly differ , indicating that peripheral myelin P 0 protein point mutation is not always associated with a severe phenotype . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Micromutations were found in the gene for peripheral myelin protein 22 ( PMP 22 ) located in the duplicated region of CMT 1a , and in the peripheral myelin protein zero ( PO ) located on chromosome 1q21 q 23 ( CMT 1b ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
It now appears that most of the HMSNs are related to mutations affecting genes encoding Schwann cell proteins , specifically the Peripheral Myelin Protein PMP 22 , Myelin Protein Zero , and one of the gap junction proteins , connexin 32 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Myelin protein zero ( Po ) , the major structural protein of peripheral myelin , is another integral myelin membrane protein like PMP 22 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
A European collaboration on Charcot Marie Tooth type 1 ( CMT 1 ) disease and hereditary neuropathy with liability to pressure palsies ( HNPP ) was established to estimate the duplication and deletion frequency , respectively , on chromosome 17p11 . 2 and to make an inventory of mutations in the myelin genes , peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) located on chromosomes 17p11 . 2 , 1q21 q 23 and Xq13 . 1 , respectively . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We have identified five novel mutations in the myelin protein zero ( MPZ ) gene , encoding the major structural protein ( P 0 ) of peripheral nerve myelin , in patients with either CMT1B , DSS , or CH . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Point mutations in the coding region of the myelin genes , peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) or connexin 32 ( Cx 32 ) have been reported in CMT patients , including CMT type 1 ( CMT 1 ) , CMT type 2 ( CMT 2 ) and Djrine Sottas neuropathy ( DS ) patients , and only in the coding region of PMP 22 in HNPP families lacking a deletion . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Quantitative immunohistochemical determination showed that PMP 22 protein expression relative to that of myelin protein zero and myelin basic protein was increased in all CMT1A patients and reduced in all HNPP patients , as compared with biopsy samples of patients with normal PMP 22 gene expression . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Motor and sensory neuropathies with the clinical features of HMSN 3 ( Dejerine Sottas syndrome , DSS ) are etiologically related to heterozygous mutations in either peripheral myelin protein 22 ( PMP 22 ) or myelin protein zero ( MPZ ) . ^^^ Absence of mutations in peripheral myelin protein 22 , myelin protein zero , and connexin 32 in autosomal recessive Dejerine Sottas syndrome . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We screened for mutations in the peripheral myelin protein genes connexin 32 ( Cx 32 ) , myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) by direct sequencing . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The peripheral myelin protein 22 gene ( PMP 22 ) , the myelin protein zero gene ( MPZ , P 0 ) , and the connexin 32 gene ( Cx 32 , GJB 1 ) code for membrane proteins expressed in Schwann cells of the peripheral nervous system ( PNS ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Molecular genetic analysis in Patient 2 disclosed a point mutation in the myelin protein zero gene ; this same point mutation has been reported in three other patients diagnosed with Dejerine Sottas syndrome ( DSS ) but has never been reported in a patient with CHN . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations found in the two major glycosylated transmembrane proteins of the PNS myelin , the peripheral myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) , have been independently associated with the most common hereditary demyelinating peripheral neuropathies . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
However , several dominant heterozygous mutations in the peripheral myelin protein 22 ( PMP 22 ) gene and dominant mutations in the peripheral myelin protein zero ( MPZ ) gene , both in the heterozygous and homozygous state , have been reported in patients with DSS . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We report on two sisters with Dejerine Sottas syndrome ( DSS ) who had a heterozygous Gly 167 Arg mutation in the myelin protein zero ( MPZ ) gene and hereditary stomatocytosis ( HSt ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
By automated direct nucleotide sequencing we analyzed PMP 22 and the gene of the major structural myelin protein zero ( P 0 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Molecular genetics , animal models , and transfected cell studies are shedding light on function and dysfunction of proteins involved in hereditary myelinopathies peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( PO ) , connexin 32 ( Cx 32 ) , and early growth response 2 ( EGR 2 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The genes involved are peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , and the early growth response element 2 ( EGR 2 ) , respectively . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in three genes coding for the myelin proteins peripheral myelin protein 22 , myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot Marie Tooth type 1 and 2 , hereditary neuropathy with liability to pressure palsies , Dejerine Sottas syndrome and congenital hypomyelination . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Western blot analyses resulted in detection of a 22 kDa protein by the PMP 22 specific antibody 558 / 2 and in exclusion of myelin protein zero ( MPZ ) expression in these cell lines . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In order to determine the optimal approach for mutation testing in the form of Charcot Marie Tooth ( CMT ) neuropathy , consecutive patients with a CMT phenotype , available family history information on at least first degree relatives , and median motor conduction velocities of less than 50 m / sec were tested for the CMT1A duplication and for connexin 32 , peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) point mutations . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
CONCLUSIONS : Most of these syndromes were shown to be related to genetic or immunological defects of myelin components such as peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( P 0 ) , or myelin associated glycoprotein ( MAG ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in the gene for the major protein component of peripheral nerve myelin , myelin protein zero ( MPZ , P 0 ) , cause hereditary disorders of Schwann cell myelin such as Charcot Marie Tooth neuropathy type 1B ( CMT1B ) , Dejerine Sottas syndrome ( DSS ) , and congenital hypomyelinating neuropathy ( CHN ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Clinical observation showed irregular stretching of the hindlimbs , tremor and generalized myokymia in mice with targeted deletions of the genes encoding myelin protein zero ( P 0 / ) or peripheral myelin protein 22 ( Pmp 22 / ) , and Trembler mice , which carry a point mutation of Pmp 22 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations of myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) genes were examined in 70 unrelated Japanese patients with Charcot Marie Tooth disease ( CMT ) without PMP 22 gene duplication . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Three genes responsible for hereditary motor and sensory neuropathy type 1 ( HMSNI ) or CMT 1 have been identified : peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( MPZ ) for the autosomal dominant form and connexin 32 ( Cx 32 ) for the 10 linked dominant variant . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth disease and related peripheral neuropathies : novel mutations in the peripheral myelin genes connexin 32 ( Cx 32 ) , peripheral myelin protein 22 ( PMP 22 ) , and peripheral myelin protein zero ( MPZ ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Point mutations in peripheral myelin gene 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , and connexin 32 ( Cx 32 ) have been reported in CMT 1 , and in PMP 22 in HNPP patients without deletion . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The regulation of 3 beta hydroxysteroid dehydrogenase mRNA after lesion was similar to the regulation of myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) mRNAs , supporting an important role of locally formed progesterone in myelination . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in genes encoding the myelin proteins peripheral myelin protein 22 , myelin protein zero and connection 32 are associated with hereditary motor and sensory neuropathy type 1 and 2 and hereditary neuropathy with liability to pressure palsies . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene ( PMP 22 ) , the myelin protein zero gene ( MPZ ) , or the gap junction protein beta 1 gene ( GJB 1 ) and identified two DSN patients with the heterozygous mutation R359W in the alpha helix domain of the first zinc finger of EGR 2 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy , we identified 153 unrelated patients who enrolled prior to the availability of clinical testing , 79 had a 17p12 duplication ( CMT1A duplication ) , 11 a connexin 32 mutation , 5 a myelin protein zero mutation , 5 a peripheral myelin protein 22 mutation , 1 an early growth response factor 2 mutation , 1 a periaxin mutation , 0 a myotubularin related protein 2 mutation , 1 a neurofilament light chain mutation , and 50 had no identifiable mutation ; the N myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations . ^^^ Charcot Marie Tooth disease ( CMT ) is a genetically heterogeneous disorder that has been associated with alterations of several proteins : peripheral myelin protein 22 , myelin protein zero , connexin 32 , early growth response factor 2 , periaxin , myotubularin related protein 2 , N myc downstream regulated gene 1 product , neurofilament light chain , and kinesin 1B . ^^^ In the process of screening the above cohort of patients as well as other patients for CMT causative mutations , we identified several previously unreported mutant alleles : two for connexin 32 , three for myelin protein zero , and two for peripheral myelin protein 22 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
These genes were peripheral myelin protein 22 , decorin , transcription factor AP 1 , dystroglycan 1 , myelin protein zero , mitogen activated protein kinase 3 , prothymosin beta 4 , and brain lipid binding protein . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Most CMT 1 patients are associated with the duplication of 17p11 . 2 p 12 ( CMT1A duplication ) and small numbers of patients have mutations of the peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , connexin 32 ( Cx32 / GJB1 ) , and early growth response 2 ( EGR 2 ) genes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Three genes commonly causing Charcot Marie Tooth disease ( CMT ) encode myelin related proteins : peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Furthermore sequence variations of PMP 22 , myelin protein zero ( MPZ ) and the gap junction protein b 1 gene ( GJB 1 or Connexin 32 ) may cause a variety of distinct CMT phenotypes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Most CMT 1 patients are associated with a duplication of 17p11 . 2 p 12 ( CMT1A duplication ) , but a small number of patients have mutations of peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , connexin 32 ( Cx 32 ) and early growth response 2 ( EGR 2 ) genes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In the primary peripheral demyelinating neuropathies ( CMT 1 ) , at least 9 genes have been associated with the disorders ; altered dosage of peripheral myelin protein 22 ( PMP 22 ) or point mutation of PMP 22 , the gap junction protein 1 ( GJB 1 ) , the myelin protein zero gene ( MPZ ) , the early growth response gene 2 ( EGR 2 ) , the myotubularin related protein 2 gene ( MTMR 2 ) , the N myc downstream regulated gene 1 ( NDRG 1 ) , the L periaxin gene ( PRX ) , SRY related HMG BOX gene 10 ( SOX 10 ) and the ganglioside induced differentiation associated protein 1 gene ( GDAP 1 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Phenotypic differences between peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) mutations associated with Charcot Marie Tooth related diseases . ^^^ Mutations in the genes for peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) cause human hereditary neuropathies with varying clinical and pathological phenotypes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Here , we used this model to test whether progesterone , a regulator of the myelin genes Pmp 22 and myelin protein zero ( Mpz ) in cultured Schwann cells , can modulate the progressive neuropathy caused by moderate overexpression of Pmp 22 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In addition to the peripheral myelin protein 22 gene ( PMP 22 ) duplication ( CMT1A ) , myelin protein zero gene ( MPZ ) mutations may account for a certain portion of CMT 1 patients ( CMT1B ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
These genes were peripheral myelin protein 22 , decorin , transcription factor AP 1 , dystroglycan 1 , myelin protein zero , mitogen activated protein kinase 3 , prothymosin beta 4 , and brain lipid binding protein . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The authors describe a simple and cost effective method of immunostaining semithin epoxy resin sections of peripheral nerve for light microscopy with antibodies to myelin protein zero , peripheral myelin protein 22 , myelin basic protein , and neurofilament protein 200 using a combined technique of surface etching with sodium ethoxide and heat induced antigen retrieval . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Myelin Protein Zero ( MPZ , P 0 ) mutations produce phenotypes ranging from adult demyelinating ( CMT1B ) to early onset [ Djrine Sottas syndrome ( DSS ) or congenital hypomyelination ] to predominantly axonal neuropathy , suggesting gain of function mechanisms . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Recent studies suggested that the peripheral hypomyelination syndrome in the trembler ( Tr ) mouse , a possible animal model for CMT 1 disease , is associated with a point mutation in the peripheral myelin protein 22 gene ( pmp 22 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
While at least two distinct loci have been shown to be linked to the CMT 1 phenotype ( CMT1A and CMT1B , on chromosomes 17 and 1 , respectively ) , whether the CMT 2 phenotype results from mutations allelic to either of the CMT 1 genes remains unknown . ^^^ Studying one CMT 1 and two CMT 2 pedigrees , we were able to exclude the CMT 2 disease locus from the region of chromosome 17 ( Z = 2 . 80 at theta = 0 . 05 for D17S58 ) where the CMT1A gene maps ( Z = +3 . 67 at theta = 0 . 00 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In most CMT 1 families , the disease cosegregates with a 1 . 5 Mb duplication on chromosome 17p11 . 2 ( CMT1A ) . ^^^ We performed a rapid mutation screening of the PMP 22 and P 0 genes in non duplicated CMT 1 patients by single strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We analysed an extended CMT 1 pedigree ( CMT B ) without the CMT1A duplication . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
CMT 1 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1 , 500 kb in the CMT1A locus of chromosome 17p11 . 2 . ^^^ The aim of the present study was to determine the prevalence of CMT1A duplication in patients with CMT 1 and evaluate its usefulness as a biological diagnostic marker . ^^^ RESULTS : CMT1A duplication was found in 68 . 7 % of the patients with CMT 1 and in 27 . 2 % of untyped CMT patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , the 10 chromosome ( CMTX ) and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17p ( CMT1A ) , chromosome 1q ( CMT1B ) , the 10 chromosome ( CMTX ) and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The CMT1A duplication was found in 68 % of the 63 unrelated CMT patients with electrophysiological studies consistent with CMT type 1 ( CMT 1 ) . ^^^ The CMT1A duplication was detected as a de novo event in two CMT 1 families . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Autosomal dominant CMT1A on chromosome 17p11 . 2 represents about 70 % of CMT 1 cases and about 50 % of all CMT cases . ^^^ CMT1B restriction enzyme analysis of CMT pedigrees without CMT1A is expected to diagnose another 8 % of at risk CMT 1 patients ( total : 78 % ) . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We have identified a severely affected CMT 1 patient who is a compound heterozygote for a recessive PMP 22 point mutation , and a 1 . 5 Mb deletion in 17p11 . 2 p 12 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Clinical symptoms are similar but more severe than Charcot Marie Tooth disease type 1 ( CMT 1 ) , of which the major subtype , CMT1A , results either from duplication of a 1 . 5 megabase DNA region in chromosome 17p11 . 2 p 12 containing the myelin gene PMP 22 , or from PMP 22 point mutation . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The gene encoding the peripheral myelin protein PMP 22 ( the critical gene in this subtype of CMT 1 ) is located within this duplication . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Stable inheritance of the CMT1A DNA duplication in two patients with CMT 1 and NF 1 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
There are reports of central conduction abnormalities in CMT 1 , however , there have been no previous reports of central nervous system ( CNS ) demyelination in HNPP . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In this study , we determined the ultrastructural distribution of PMP 22 and other myelin proteins in normal human peripheral nervous system ( PNS ) nerves and in CMT 1 patients with or without the CMT1A duplication on chromosome 17 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
CMT 1 loci map to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , another unknown autosome ( CMT1C ) and the 10 chromosome ( CMTX ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Since motor nerve conduction velocity ( MNCV ) is closely related to nerve myelination , we compared type 1A patient MNCVs versus non A CMT 1 patient MNCVs , in 57 CMT1A patients and 21 non A type 1 patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The most common mutation in CMT 1 , found in 70 % of cases , is a tandem duplication of 1 , 500 kb at the CMT1A locus . ^^^ Altogether , we can say that CMT 1 , DSS and FNPP are different clinical expressions of the same genetic pathology and reflect a phenotypic spectrum of related myelin disorders . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
About 70 % of Japanese CMT 1 patients have a PMP 22 duplication as do Caucasians , while Japanese CMT1B , CMT 2 and Dejerine Sottas patients to not have PMP 22 gene region aneuploidy . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Most cases of CMT 1 are associated with a 1 . 5 Mb tandem duplication in 17p11 . 2 p 12 that encompasses the PMP 22 gene . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Our findings support the suggestion that DSS and CMT 1 disease should not be considered as two different clinical entities . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
PMP 22 Thr ( 118 ) Met : recessive CMT 1 mutation or polymorphism . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The majority of CMT 1 patients have a 1 . 5Mb tandem duplication ( CMT1A ) in chromosome 17p11 . 2 while most HNPP patients have a deletion of the same 1 . 5 Mb region . ^^^ Charcot Marie Tooth type 1 disease ( CMT 1 ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) are common inherited disorders of the peripheral nervous system . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
DNA duplications and deletions of a 1 . 5 Mb region in chromosome 17p11 . 2 12 comprising the gene encoding peripheral myelin protein 22 ( PMP 22 ) are the common mutations in Charcot Marie Tooth disease type 1 ( CMT 1 ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^ A 1 . 7 kb recombination hotspot region has been identified within misaligned flanking repeats ( CMT 1 REP elements ) by detection of CMT and HNPP specific junction fragments in Southern blot analyses . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The crossover breakpoints for hereditary neuropathy with liability to pressure palsies ( HNPP ) are located in the CMT 1 A REP repeat flanking a 1 . 5 Mb region of chromosome 17p11 . 2 12 . ^^^ Three unrelated HNPP patients have breakpoints in a 3 . 2 kb novel fragment of recombinant chromosome in the CMT 1 A REP repeat . ^^^ The precise mapping of the breakpoints indicated that 2 patients were localized in a 700 bp interval of the 1 . 2 kb fragment 1 . 3kb telomeric to a marier transposon like element ( Kiyosawa and Chance , HMG 5 : 745 753 , 1996 ) , suggesting that this region is a recombinational `` hotspot ' ' within the CMT 1 A REP repeat for HNPP as well as CMT 1 A . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Following this technique we were able to identify six CMT1A duplications in 13 clinically diagnosed CMT 1 cases and five HNPP deletions in 6 clinically diagnosed HNPP cases ; 8 control persons were included in this study . ^^^ We report here a technique for extraction of nuclei from paraffin embedded and cryofixed sural nerve biopsies for precise molecular diagnosis , employing interphase two color FISH in clinically diagnosed CMT 1 or HNPP patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We analyzed a 1 . 5 Mb duplication of the p11 . 2 12 region of chromosome 17 , including the PMP 22 gene ( CMT1A duplication ) , seven families with Charcot Marie Tooth disease type 1 ( CMT 1 ) and six sporadic patients with suspected CMT 1 by Southern blot analysis . ^^^ In six out of seven families with CMT 1 , CMT1A duplication was identified . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT 1 disease and HNPP . ^^^ We analysed the nerve specific promoter of the peripheral myelin protein 22 gene ( PMP 22 ) in a set of 15 unrelated patients with Charcot Marie Tooth type 1 disease ( CMT 1 ) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^ In one autosomal dominant CMT 1 patient , we identified a base change in the non coding exon 1A of PMP 22 which , however , did not cosegregate with the disease in the family . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
CMT 1 , or hypertrophic form in which mutations or a duplication were found on chromosome 17 is the most frequent ( CMT1A ) , CMT 2 is the neuronal form , CMT 3 is termed the Dejerine Sottas disease , CMT 4 recessive forms , CMT 5 a form with associated pyramidal features , and CMTX . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The patients with the G insertion showed the clinical , electrophysiological and morphological characteristics of common HNPP , but in addition they had significantly more neuropathic features , mimicking hereditary motor and sensory neuropathy type 1 ( HMSN 1 ) or Charcot Marie Tooth disease type 1 ( CMT 1 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
As shown for the animal model of globoid cell dystrophy , it is conceivable that increased expression of MHC class 2 molecules in CMT 1 and HNPP accelerates nerve pathology . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We reported a 7 year old girl with sporadic CMT 1 associated with the CMT1A duplication . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Because of mild overlap of clinical features with CMT 1 , HNPP patients may be misdiagnosed as having CMT 1 . ^^^ HNPP and CMT 1 are both demyelinating neuropathies ; however , their clinical , pathological , and electrophysiological features are quite distinct . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Here , recent findings are discussed concerning ( 1 ) the functional consequences of altered PMP 22 expression on Schwann cell growth regulation and on the capacity of genetically modified Schwann cells to myelinate peripheral axons , ( 2 ) the cell physiological effects caused by the expression of certain disease related missense mutations of PMP 22 that are known to alter the Schwann cell phenotype and impair myelination in vivo , and ( 3 ) the pathomechanism of CMT 1 in light of findings on a novel association between PMP 22 and P 0 in PNS myelin . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The frame shift mutation Gly 94 ( insG ) combines a loss of function like in the common deletion HNPP with a mild CMT 1 phenotype , likely inducing a ( mild ) toxic gain of function by disturbing myelin formation and maintenance , comparable to the effect in missense mutations . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth disease type 1 ( CMT 1 ) is caused by mutations in the peripheral myelin protein , 22 kDa ( PMP 22 ) gene , protein zero ( P 0 ) gene , early growth response gene 2 ( EGR 2 ) and connexin 32 gene , which are expressed in Schwann cells , the myelinating cells of the peripheral nervous system . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Dominantly inherited CMT1A duplications and HNPP deletions on chromosome 17p11 . 2 are thus , as in most other European countries , the most common mutations in Slovene CMT 1 and HNPP patients . ^^^ Charcot Marie Tooth disease type 1 ( CMT 1 ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) are the most frequent autosomal dominantly inherited disorders of the peripheral nervous system . ^^^ In our study 71 Slovene CMT 1 patients from 36 families , 12 HNPP patients from 6 families and their 31 healthy relatives were analysed for the presence of these recombination mutations . ^^^ In 29 of 36 unrelated CMT 1 ( 81 % ) and in all 6 unrelated HNPP patients the duplication or the deletion , on chromosome 17p11 . 2 12 was detected . ^^^ One hundred and thirty six DNA samples of the CMT 1 and HNPP patients and of the healthy controls were negative for the potentially recessive Thr118Met PMP 22 amino acid substitution . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) and to another unknown autosome ( CMT1C ) . ^^^ Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP 22 gene or the P 0 gene and shares considerable clinical and pathological features with CMT 1 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The most common mutations are the 1 . 5 Mb CMT1A tandem duplication on chromosome 17p11 . 2 p 12 in CMT 1 patients and the reciprocal 1 . 5 Mb deletion in HNPP patients . ^^^ Fifty nine CMT1A duplications were found , of which 58 belonged to the CMT 1 patient group . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Hemizygous mutation of PMP 22 should be considered in patients with autosomal recessive CMT 1 or with severe hereditary neuropathy with liability to pressure palsy . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Immunohistochemical analysis of sciatic nerve sections revealed the same maldistribution of PMP 22 in Tr mice as in sural nerve biopsies of CMT 1 patients . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
A submicroscopic tandem duplication of 1 . 5 Mb in chromosome 17p11 . 2 12 comprising the PMP 22 gene is found in 70 . 7 % of autosomal dominant Charcot Marie Tooth type 1 ( CMT 1 ) patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Chromosomal imbalance of the peripheral myelin protein 22 gene ( PMP 22 ) is known to be the most frequent genetic abnormality in Charcot Marie Tooth disease type 1 ( CMT 1 ) and hereditary neuropathy with liability to pressure palsy ( HNPP ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Anti PMP 22 positive sera were detected in 70 % of patients with CMT 1 and unexpectedly in 60 % of patients with CMT 2 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Genetic loci for CMT 1 map to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , and another unknown autosome ( CMT1C ) . ^^^ Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP 22 gene or the Po gene and shares considerable clinical and pathological features with CMT 1 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
To shed further light on this variant and its diagnostic value we searched for carriers in 1018 individuals from the German general population , in 104 probands with hereditary neuropathy with liability to pressure palsies ( HNPP ) who were carriers of the 1 . 5 Mb deletion frequently associated with this disorder , in 187 patients with the 1 . 5 Mb duplication , and in 22 patients with a CMT 1 phenotype who did not have any detectable anomaly in the PMP 22 gene . ^^^ Using allele specific PCR we identified 14 [ allele frequency ( AF ) =0 . 007 ] in the German general population , one ( AF=0 . 01 ) in the HNPP group and six ( AF=0 . 016 ) and two ( AF=0 . 05 ) carriers of the PMP 22 Thr118Met mutation in the CMT 1 groups with and without gene defect . ^^^ It is controversial if peripheral myelin protein 22 gene ( PMP 22 ) Thr118Met represents a functionally irrelevant polymorphism or , since hemizygosity for this variant has been found in two patients with Charcot Marie Tooth disease type 1 ( CMT 1 patients ) , it can act as a recessive CMT 1 mutation . ^^^ PMP 22 Thr118Met is not a clinically relevant CMT 1 marker . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Thirty eight Norwegian patients with CMT 1 , 4 patients with HNPP , 15 asymptomatic family members , and 45 normal controls were studied using the ABI 7700 sequence detection system and the TaqMan method of real time quantitative polymerase chain reaction ( PCR ) . ^^^ Thirty four of thirty eight CMT 1 patients ( 89 . 6 % ) had the PMP 22 duplication and the four HNPP patients had the PMP 22 deletion . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) and to another unknown autosome ( CMT1C ) . ^^^ Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset , demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP 22 gene or the P 0 gene and shares considerable clinical and pathologic features with CMT 1 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Around 70 % of Charcot Marie Tooth 1 ( CMT 1 ) cases are caused by a dominantly inherited 1 . 5 Mb duplication at 17p11 . 2 12 ( CMT1A ) . ^^^ Thirty two of 46 CMT 1 cases ( 69 . 6 % ) , all heterozygous but one homozygous for the pVAW409R3a MspI polymorphism , from 12 of 21 families ( 57 . 1 % ) were positive for the CMT1A duplication . ^^^ The CMT1A frequency of duplication in Norwegian CMT 1 patients is in general agreement with those reported in other European countries and the present results show that quantitative densitometric PSL imaging is a highly reliable test in diagnosing CMT1A duplication . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
RESULTS : Twenty six ( 68 . 4 % ) of the CMT 1 patients from 9 ( 60 % ) families were positive for the CMT1A duplication which was not found in any of the controls . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Around 70 80 % of CMT 1 cases are caused by a dominantly inherited 1 . 5 Mb duplication at 17p11 . 2 12 ( CMT1A ) , encompassing the peripheral myelin protein 22 ( PMP 22 ) gene . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We conclude that DSS , although in general denoting a more serious neuropathy than CMT 1 , does not imply a severe disability or wheelchair dependency in adult life . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Detection of CMT1A / HNPP recombination hotspot is a simple and reliable DNA diagnostic method , which is useful only for the patients with clinically already verified CMT 1 , and HNPP for further genetic counselling of patients and members of their families . . ^^^ We studied 48 subjects belonging to 29 families with clinical and electrophysiological signs of definite CMT 1 , 20 patients with suspected CMT phenotype , and 17 patients and healthy members of their families with HNPP . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We have performed the detection of 1 . 5 Mb CMT1A tandem duplication in 17p11 . 2 12 chromosome region for autosome dominant CMT 1 patients and their relatives using the analysis of two ( CA ) n polymorphic microsatellite loci : 17S921 and 17S1358 localised in the duplication region . ^^^ CMT1A duplication was found in three of five autosome dominant CMT 1 families . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
A quantitative Southern blot with probes PMP 22 and VAW 409 specific for Charcot Marie Tooth type 1 ( CMT 1 ) disclosed a duplication which confirmed the diagnosis HMSN Ia . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NF L should be investigated in CMT 2 as well as in CMT 1 not associated with the usual genes PMP 22 , Cx 32 , and P0 . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
To date , 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot Marie Tooth disease ( CMT 1 ) and congenital hypomyelinating neuropathy ( CHN ) [ MIM # 605253 ] . ^^^ In the present study we report two cases of de novo S72L mutations in the PMP 22 gene detected in patients of Polish origin suffering from CMT 1 disease . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In the primary peripheral demyelinating neuropathies ( CMT 1 ) , at least 15 genes have been associated with the disorders ; altered dosage or point mutation of PMP 22 , GJB 1 , MPZ , EGR 2 , MTMR 2 , NDRG 1 , PRX , SOX 10 , GDAP 1 and MTMR13 / SBF2 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The Thr ( 118 ) Met substitution in the peripheral myelin protein 22 ( PMP 22 ) gene has been detected in a number of families with demyelinating Charcot Marie Tooth ( CMT 1 ) neuropathy or with the hereditary neuropathy with liability to pressure palsy , but in none of them has it consistently segregated with the peripheral neuropathy . ^^^ We describe here a CMT 1 family ( a 63 year old man , his brother and his niece ) in which two mutations on different chromosomes were found in the PMP 22 gene , the 17p duplication , detected by fluorescent semiquantitative polymerase chain reaction ( PCR ) of microsatellite markers localized within the duplicated region on chromosome 17p11 . 2 p 12 , and the Thr ( 118 ) Met substitution , detected by direct sequencing the four coding exons of the PMP 22 gene . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
To assess the frequency and features of sensory symptoms in a cohort of patients with CMT , we investigated in a prospective study 52 consecutive CMT patients , diagnosed on the basis of clinical , neurophysiological , and genetic features and classified in CMT type 1 ( CMT 1 ) ( 20 patients , including 14 with CMT1A ) and CMT type 2 ( CMT 2 ) ( 32 patients ) . ^^^ Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT 1 group . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1A ( CMT 1 A ) is the most common inherited neuropathy in humans and is mostly caused by a 1 . 5 Mb tandem duplication of chromosome 17 comprising the gene for the peripheral myelin protein 22 kDa ( PMP 22 ) . ^^^ To test this possibility for PMP 22 overexpression , we investigated a putative mouse model for CMT 1 A , i . e . , the mouse strain C 6 1 mildly overexpressing human PMP 22 in peripheral nerves . ^^^ By gene array technology and quantitative RT PCR of peripheral nerve homogenates from PMP 22 mutants , monocyte chemoattractant protein 1 ( MCP 1 ; cc l 2 ) could be identified as a putative factor to attract or activate macrophages that attack myelin sheaths in this model of CMT 1 A . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , chromosome 16 ( CMT1C ) and chromosome 10 ( CMT1D ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The major mutation microduplication of 1 . 4 megabases in 17p11 . 2 region , which is responsible for 68 90 % of cases of CMT 1 , results in CMT1A . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In CMT 1 70 % of patients harbor the CMT1A duplication , followed by GJB 1 mutations at 8 . 8 % . ^^^ If one further specifies the clinical type ( demyelinating vs . axonal ) , the yield of detecting a molecular defect increases to 75 % to 80 % in the demyelinating or CMT 1 group with a screening test that evaluates for CMT1A duplication / hereditary neuropathy with liability to pressure palsies deletion and GJB 1 point mutations . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
METHODS : CMT1A duplication and mutations at loci of MPZ , Cx32 / GJB1 , EGR 2 , and LITAF / SIMPLE were analyzed among 32 clinically diagnosed CMT 1 patients of Chinese ancestry . ^^^ RESULTS : The CMT1A duplication was detected in 62 . 5 % ( 20 / 32 ) CMT 1 patients . ^^^ Molecular testing of the CMT1A duplication , along with the loci of MPZ and Cx 32 , may detect the majority of Chinese CMT 1 patients . . ^^^ No mutation was detected in genes PMP 22 , EGR 2 and LITAF among the remaining nine ( 28 . 1 % ) CMT 1 patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The Charcot Marie Tooth disease ( hereditary motor and sensory neuropathy ) loci have been reported to be on at least three chromosomes : 1 ( CMT1B , HMSN1B ) , 17 ( CMT1A ) , and 10 ( CMTX ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In particular , the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot Marie Tooth disease type 1A ( CMT1A ) , Charcot Marie Tooth disease type 1B ( CMT1B ) , and hereditary neuropathy with liability to pressure palsies ( HNPP ) have been determined . ^^^ While mutation in the gene encoding the major myelin protein , P 0 has been associated with CMT1B , CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A , or the corresponding DNA deletion in HNPP . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy ( CMT ) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , the 10 chromosome ( CMTX ) , and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The CMT loci are known to map to chromosome 1 ( CMT1B ) , chromosome 17 ( CMT1A ) , the 10 chromosome ( CMTX ) , and two additional unknown autosomes ( CMT1C and CMT 2 ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Three genetic loci for the Charcot Marie Tooth ( CMT ) syndromes with slow motor nerve conduction velocities ( hereditary motor and sensory neuropathy : HMSN type 1 ) have been mapped to chromosomes 1 ( CMT1B ) , 17 ( CMT1A ) , and the 10 chromosome ( CMTX ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charcot Marie Tooth disease type 1B ( CMT1B ) , and the more severe Dejerine Sottas syndrome ( DSS ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We excluded by linkage analysis the three loci CMT1A ( 17p11 . 2 ) , CMT1B ( 1q22 23 ) , and CMT4A ( 8q11 21 . 1 ) responsible for demyelinating forms of CMT . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in 3 distinct myelin genes , PMP 22 , P 0 , and connexin 32 cause the 3 major demyelinating subtypes of Charcot Marie Tooth ( CMT ) disease , CMT1A , CMT1B and CMTX , respectively . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations are linked to Charcot Marie Tooth syndrome type 1B ( CMT1B ) and the more severe Dejerine Sottas syndrome ( DSS ) . ^^^ Three mutations leading to phenotypes of increasing severity ( Ser34del / CMT1B , Ser34Cys / DSS , INS663GC / DSS ) were expressed in S 2 insect cells and resulted in a decreased adhesion capability in correlation with their respective phenotypes . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutations in the gene encoding for the myelinating Schwann cell protein P 0 have been linked to inherited peripheral neuropathies , including the Charcot Marie Tooth type 1B disease ( CMT1B ) and Dejerine Sottas syndrome ( DSS ) . ^^^ Recently generated mice deficient in the P 0 gene ( P 0 / mice ) resemble cases of CMT1B and DSS with impaired myelin dosage ( Martini et al . , 1995a ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
This `` de novo ' ' mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot Marie Tooth type 1B disease ( CMT1B ) or Dejerine Sottas syndrome ( DSS ) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Point mutlations in the genes encoding the myelin proteins PMP 22 and P 0 cause CMT1A without a gene duplication and CMT1B , respectively . ^^^ Although the clinical and pathological phenotypes of CMT1A and CMT1B are similar , their molecular pathogenesis is quite different . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Further , the recently reported association of PMP 22 and P 0 in peripheral myelin sheds new light on the almost identical phenotypes of CMT1A and CMT1B giving rise to a unifying hypothesis on disease mechanism . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Linkage with the CMT loci already known ( CMT1A , CMT1B , CMT2A , CMT2B , CMT2D , and a number of other CMT related loci ) was excluded . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Conclusively , truncating mutations within the P 0 intracellular domain do not necessarily cause a severe phenotype such as Dejerine Sottas syndrome ( DSS ) or congenital hypomyelinating neuropathy ( CHN ) , but can result in mild or moderate CMT1B with intrafamilial clinical variability . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
BACKGROUND : Mutations in P 0 , the major protein of the myelin sheath in peripheral nerves , cause the inherited peripheral neuropathies Charcot Marie Tooth disease type 1B ( CMT1B ) , Dejerine Sottas syndrome ( DSS ) and congenital hypomyelination ( CH ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The known loci for CMT1A , CMT2D , CMT1B ( the same locus is also responsible for CMT2I and CMT2J ) , CMT2A , CMT2E , and CMT2F were excluded in this family by linkage analysis . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
However , median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP 22 mutations . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
DCMAP dispersion was more frequent in nerves affected by CIDP ( 41 . 5 % ) than in Charcot Marie Tooth disease ( CMT ) 1A ( 24 . 4 % ) , CMT1B ( 7 . 4 % ) , hereditary neuropathy with liability to pressure palsies ( HNPP ) ( 10 . 5 % ) , or CMTX ( 9 . 8 % ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Instead of being two completely distinct disease entities , DSS and CMT1A form a spectrum of inherited PMP 22 related neuropathies , including hereditary neuropathy with liability to pressure palsies which carries a deletion of the PMP 22 gene . . ^^^ Some patients with Dejerine Sottas syndrome ( DSS ) also have dominant and recessive point mutations in PMP 22 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The gene encoding the peripheral myelin protein PMP 22 is affected by various mutations in the hereditary peripheral neuropathies Charcot Marie Tooth disease type 1A ( CMT1A ) , Djrine Sottas syndrome ( DSS ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Dejerine Sottas syndrome ( DSS ) , a severe demyelinating peripheral neuropathy with onset in infancy , has been associated with mutations in either PMP 22 or MPZ . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Recent progress in molecular genetics revealed that mutations affecting the PMP 22 gene including duplications , deletions , and point mutations are responsible for the most common forms of hereditary peripheral neuropathies including Charcot Marie Tooth disease type 1A ( CMT1A ) , hereditary neuropathy with liability to pressure palsies ( HNPP ) , and a subtype of Dejerine Sottas Syndrome ( DSS ) . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Point mutations in the gas3 / PMP22 gene account for the dominant inherited peripheral neuropathies Charcot Marie Tooth type 1A disease ( CMT1A ) and Dejerine Sottas syndrome ( DSS ) . ^^^ In conclusion , we suggest that the DSS and the CMT1A neuropathies derived from point mutations of Gas3 / PMP22 might arise , at the molecular level , from a reduced exposure of Gas3 / PMP22 at the cell surface , which is required to exert its biological functions . . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The duplication of PMP 22 is the most common cause of the demyelinating form of the autosomal dominant Charcot Marie Tooth neuropathy ( CMT1A ) ; rarer missense mutations of PMP 22 also cause CMT1A or severe dehypomyelinating neuropathies of infancy grouped under the heading of Dejerine Sottas syndrome ( DSS ) . ^^^ Here , a sporadic patient affected with DSS is described ; nerve biopsy disclosed a picture of hypomyelination / amyelination with basal laminae onion bulbs and no florid demyelination and it was consistent with congenital hypomyelination neuropathy ( CHN ) ; molecular analysis disclosed a novel point mutation of PMP 22 that causes a non conservative arginine for cysteine substitution at codon 109 , in the third transmembrane domain . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Our objective was to report one other DSS patient with Ser72Leu substitution in PMP 22 and to concurrently illustrate how less invasive procedures such as skin biopsy could provide a rapid and reliable alternative to conventional sural nerve biopsy for the characterization of histophenotypic features . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The genes for HMSN type Ia , Ib and an 10 linked dominant form have been identified as PMP 22 , MPZ and GJB 1 respectively . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
To compare the sensitivity of the mutation detection techniques single strand conformation polymorphism analysis ( SSCP ) and heteroduplex analysis ( HA ) , we analyzed a cohort of 73 patients with a diagnosis of a demyelinating neuropathy , but without the CMT1A duplication , for mutations in the coding region of the myelin genes PMP 22 , MPZ and Cx 32 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
The molecular analysis failed to demonstrate either linkage of the disease to MPZ gene , PMP 22 gene , Cx 32 gene , orEGR 2 gene . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Four genes in HMSN have been characterized so far i . e . : PMP 22 , MPZ , Cx 32 and EGR 2 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
METHODS : ( 1 ) Identification of the optimal conditions for mutation scanning by DHPLC using 50 known variants of PMP 22 , MPZ , GJB 1 and EGR 2 . ( 2 ) Comparison of DHPLC with DNA sequencing for mutation detection in 168 patient DNA samples . ^^^ RESULTS : We established the optimal conditions for screening PMP 22 , MPZ , GJB 1 , and EGR 2 for mutations . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
DNA analysis for identification of previously characterized mutations in the genes MPZ , PMP 22 , and EGR 2 was negative . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
METHODS : Mutation analysis of the Cx 32 , MPZ and PMP 22 genes were performed by PCR RFLP , PCR SSCP , PCR DGGE and / or direct sequencing in 32 CMT probands of the Hans in China . ^^^ RESULTS : 21 . 9 % of the CMT pedigrees had mutations in the Cx 32 , MPZ and PMP 22 genes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Eleven patients in 6 families showed a Thr124Met mutation of the MPZ gene , in 2 families duplication of the PMP 22 gene was suggested and no abnormalities were found in 2 families . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutation analysis of the MPZ and PMP 22 genes in Croatian patients . ^^^ We used single strand conformation polymorphism analysis for mutational screening in two candidate genes , MPZ and PMP 22 , which have an important role in the pathogenesis of Charcot Marie Tooth disease ( CMT ) and related peripheral neuropathies . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Linkage to the known CMT 2 loci ( CMT2A , CMT2B , CMT2D , CMT2F ) and mutations in the known CMT 2 genes ( Cx 32 , MPZ , NEFL ) , GAN , NEFM , and CMT1A duplication / HNPP deletion were excluded . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Several mutations in the MTMR 2 , PMP 22 , EGR 2 , and MPZ genes have been found in patients with CHN . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We examined CMT1A duplication of 17p11 . 2 p 12 , mutations of PMP 22 , MPZ ( P 0 ) , GJB 1 ( Cx 32 ) , EGR 2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot Marie Tooth ( CMT ) disease . ^^^ Mutational analysis of PMP 22 , MPZ , GJB 1 , EGR 2 and NEFL in Korean Charcot Marie Tooth neuropathy patients . ^^^ The mutation frequencies of PMP 22 and MPZ were similar to those found in several European populations , however , it appeared that mutations in GJB 1 are less frequent in East Asian CMT patients than in Eur opean patients . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Eighteen families were tested for known mutations in the MPZ , PMP 22 , and GJB 1 genes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Accurate diagnosis through molecular testing is available for the vast majority of patients with inherited neuropathies , resulting from mutations in three genes ( PMP 22 , MPZ , and GJB 1 ) ; the most common types of muscular dystrophies ( Duchenne and Becker , facioscapulohumeral , and myotonic dystrophies ) ; the inherited motor neuron disorders ( spinal muscular atrophy , Kennedy ' s disease , and SOD 1 related amyotrophic lateral sclerosis ) ; and many other neuromuscular disorders . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
In the demyelinating form of Charcot Marie Tooth disease with dominant inheritance , five genes have been incriminated : PMP 22 , MPZ , LITAF / SIMPLE , EGR 2 ( CMT1A to D ) , and GJB 1 ( CMTX ) . ^^^ Screening for mutations in the coding regions of PMP 22 , MPZ , EGR 2 and GJB 1 was negative . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We investigated MPZ , myelin basic protein , and peripheral myelin protein 22 ( PMP 22 ) protein expression levels in a nerve biopsy of a Charcot Marie Tooth type 1B patient heterozygous for the Val 102 frame shift mutation . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP 22 , GJB 1 , MPZ , EGR 2 , and NEFL genes . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
Mutation analysis of the PMP 22 , MPZ , EGR 2 , LITAF , and GJB 1 genes in Korean patients with Charcot Marie Tooth neuropathy type 1 . ^^^
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
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Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: P25189 and Q01453	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Recent studies suggested that the peripheral hypomyelination syndrome in the trembler ( Tr ) mouse , a possible animal model for CMT 1 disease , is associated with a point mutation in the peripheral myelin protein 22 gene ( pmp 22 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Micromutations were found in the gene for peripheral myelin protein 22 ( PMP 22 ) located in the duplicated region of CMT 1a , and in the peripheral myelin protein zero ( PO ) located on chromosome 1q21 q 23 ( CMT 1b ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
A European collaboration on Charcot Marie Tooth type 1 ( CMT 1 ) disease and hereditary neuropathy with liability to pressure palsies ( HNPP ) was established to estimate the duplication and deletion frequency , respectively , on chromosome 17p11 . 2 and to make an inventory of mutations in the myelin genes , peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) located on chromosomes 17p11 . 2 , 1q21 q 23 and Xq13 . 1 , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Recent work has identified the gene products corresponding to CMT1A , CMT1B and CMTX as peripheral myelin protein 22 ( PMP 22 ) , Po and connexin 32 , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
DNA duplications and deletions of a 1 . 5 Mb region in chromosome 17p11 . 2 12 comprising the gene encoding peripheral myelin protein 22 ( PMP 22 ) are the common mutations in Charcot Marie Tooth disease type 1 ( CMT 1 ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Point mutations in the coding region of the myelin genes , peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) or connexin 32 ( Cx 32 ) have been reported in CMT patients , including CMT type 1 ( CMT 1 ) , CMT type 2 ( CMT 2 ) and Djrine Sottas neuropathy ( DS ) patients , and only in the coding region of PMP 22 in HNPP families lacking a deletion . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Motor and sensory neuropathies with the clinical features of HMSN 3 ( Dejerine Sottas syndrome , DSS ) are etiologically related to heterozygous mutations in either peripheral myelin protein 22 ( PMP 22 ) or myelin protein zero ( MPZ ) . ^^^ Absence of mutations in peripheral myelin protein 22 , myelin protein zero , and connexin 32 in autosomal recessive Dejerine Sottas syndrome . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We screened for mutations in the peripheral myelin protein genes connexin 32 ( Cx 32 ) , myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) by direct sequencing . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT 1 disease and HNPP . ^^^ We analysed the nerve specific promoter of the peripheral myelin protein 22 gene ( PMP 22 ) in a set of 15 unrelated patients with Charcot Marie Tooth type 1 disease ( CMT 1 ) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The peripheral myelin protein 22 gene ( PMP 22 ) , the myelin protein zero gene ( MPZ , P 0 ) , and the connexin 32 gene ( Cx 32 , GJB 1 ) code for membrane proteins expressed in Schwann cells of the peripheral nervous system ( PNS ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations found in the two major glycosylated transmembrane proteins of the PNS myelin , the peripheral myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) , have been independently associated with the most common hereditary demyelinating peripheral neuropathies . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
However , several dominant heterozygous mutations in the peripheral myelin protein 22 ( PMP 22 ) gene and dominant mutations in the peripheral myelin protein zero ( MPZ ) gene , both in the heterozygous and homozygous state , have been reported in patients with DSS . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The genes involved are peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , and the early growth response element 2 ( EGR 2 ) , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in three genes coding for the myelin proteins peripheral myelin protein 22 , myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot Marie Tooth type 1 and 2 , hereditary neuropathy with liability to pressure palsies , Dejerine Sottas syndrome and congenital hypomyelination . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In order to determine the optimal approach for mutation testing in the form of Charcot Marie Tooth ( CMT ) neuropathy , consecutive patients with a CMT phenotype , available family history information on at least first degree relatives , and median motor conduction velocities of less than 50 m / sec were tested for the CMT1A duplication and for connexin 32 , peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) point mutations . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
CONCLUSIONS : Most of these syndromes were shown to be related to genetic or immunological defects of myelin components such as peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( P 0 ) , or myelin associated glycoprotein ( MAG ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Clinical observation showed irregular stretching of the hindlimbs , tremor and generalized myokymia in mice with targeted deletions of the genes encoding myelin protein zero ( P 0 / ) or peripheral myelin protein 22 ( Pmp 22 / ) , and Trembler mice , which carry a point mutation of Pmp 22 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Three genes responsible for hereditary motor and sensory neuropathy type 1 ( HMSNI ) or CMT 1 have been identified : peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( MPZ ) for the autosomal dominant form and connexin 32 ( Cx 32 ) for the 10 linked dominant variant . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Chromosomal imbalance of the peripheral myelin protein 22 gene ( PMP 22 ) is known to be the most frequent genetic abnormality in Charcot Marie Tooth disease type 1 ( CMT 1 ) and hereditary neuropathy with liability to pressure palsy ( HNPP ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
It is controversial if peripheral myelin protein 22 gene ( PMP 22 ) Thr118Met represents a functionally irrelevant polymorphism or , since hemizygosity for this variant has been found in two patients with Charcot Marie Tooth disease type 1 ( CMT 1 patients ) , it can act as a recessive CMT 1 mutation . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth disease and related peripheral neuropathies : novel mutations in the peripheral myelin genes connexin 32 ( Cx 32 ) , peripheral myelin protein 22 ( PMP 22 ) , and peripheral myelin protein zero ( MPZ ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The regulation of 3 beta hydroxysteroid dehydrogenase mRNA after lesion was similar to the regulation of myelin protein zero ( P 0 ) and peripheral myelin protein 22 ( PMP 22 ) mRNAs , supporting an important role of locally formed progesterone in myelination . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in genes encoding the myelin proteins peripheral myelin protein 22 , myelin protein zero and connection 32 are associated with hereditary motor and sensory neuropathy type 1 and 2 and hereditary neuropathy with liability to pressure palsies . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene ( PMP 22 ) , the myelin protein zero gene ( MPZ ) , or the gap junction protein beta 1 gene ( GJB 1 ) and identified two DSN patients with the heterozygous mutation R359W in the alpha helix domain of the first zinc finger of EGR 2 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The peripheral myelin protein 22 mutation W28R was associated with CMT 1 and profound deafness . ^^^ Charcot Marie Tooth disease ( CMT ) is a genetically heterogeneous disorder that has been associated with alterations of several proteins : peripheral myelin protein 22 , myelin protein zero , connexin 32 , early growth response factor 2 , periaxin , myotubularin related protein 2 , N myc downstream regulated gene 1 product , neurofilament light chain , and kinesin 1B . ^^^ To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy , we identified 153 unrelated patients who enrolled prior to the availability of clinical testing , 79 had a 17p12 duplication ( CMT1A duplication ) , 11 a connexin 32 mutation , 5 a myelin protein zero mutation , 5 a peripheral myelin protein 22 mutation , 1 an early growth response factor 2 mutation , 1 a periaxin mutation , 0 a myotubularin related protein 2 mutation , 1 a neurofilament light chain mutation , and 50 had no identifiable mutation ; the N myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations . ^^^ In the process of screening the above cohort of patients as well as other patients for CMT causative mutations , we identified several previously unreported mutant alleles : two for connexin 32 , three for myelin protein zero , and two for peripheral myelin protein 22 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Around 70 80 % of CMT 1 cases are caused by a dominantly inherited 1 . 5 Mb duplication at 17p11 . 2 12 ( CMT1A ) , encompassing the peripheral myelin protein 22 ( PMP 22 ) gene . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
These genes were peripheral myelin protein 22 , decorin , transcription factor AP 1 , dystroglycan 1 , myelin protein zero , mitogen activated protein kinase 3 , prothymosin beta 4 , and brain lipid binding protein . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Most CMT 1 patients are associated with the duplication of 17p11 . 2 p 12 ( CMT1A duplication ) and small numbers of patients have mutations of the peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , connexin 32 ( Cx32 / GJB1 ) , and early growth response 2 ( EGR 2 ) genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Three genes commonly causing Charcot Marie Tooth disease ( CMT ) encode myelin related proteins : peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Most CMT 1 patients are associated with a duplication of 17p11 . 2 p 12 ( CMT1A duplication ) , but a small number of patients have mutations of peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , connexin 32 ( Cx 32 ) and early growth response 2 ( EGR 2 ) genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In the primary peripheral demyelinating neuropathies ( CMT 1 ) , at least 9 genes have been associated with the disorders ; altered dosage of peripheral myelin protein 22 ( PMP 22 ) or point mutation of PMP 22 , the gap junction protein 1 ( GJB 1 ) , the myelin protein zero gene ( MPZ ) , the early growth response gene 2 ( EGR 2 ) , the myotubularin related protein 2 gene ( MTMR 2 ) , the N myc downstream regulated gene 1 ( NDRG 1 ) , the L periaxin gene ( PRX ) , SRY related HMG BOX gene 10 ( SOX 10 ) and the ganglioside induced differentiation associated protein 1 gene ( GDAP 1 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Phenotypic differences between peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) mutations associated with Charcot Marie Tooth related diseases . ^^^ Mutations in the genes for peripheral myelin protein 22 ( PMP 22 ) and myelin protein zero ( P 0 ) cause human hereditary neuropathies with varying clinical and pathological phenotypes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The Thr ( 118 ) Met substitution in the peripheral myelin protein 22 ( PMP 22 ) gene has been detected in a number of families with demyelinating Charcot Marie Tooth ( CMT 1 ) neuropathy or with the hereditary neuropathy with liability to pressure palsy , but in none of them has it consistently segregated with the peripheral neuropathy . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In addition to the peripheral myelin protein 22 gene ( PMP 22 ) duplication ( CMT1A ) , myelin protein zero gene ( MPZ ) mutations may account for a certain portion of CMT 1 patients ( CMT1B ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
These genes were peripheral myelin protein 22 , decorin , transcription factor AP 1 , dystroglycan 1 , myelin protein zero , mitogen activated protein kinase 3 , prothymosin beta 4 , and brain lipid binding protein . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
To date , 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot Marie Tooth disease ( CMT 1 ) and congenital hypomyelinating neuropathy ( CHN ) [ MIM # 605253 ] . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The authors describe a simple and cost effective method of immunostaining semithin epoxy resin sections of peripheral nerve for light microscopy with antibodies to myelin protein zero , peripheral myelin protein 22 , myelin basic protein , and neurofilament protein 200 using a combined technique of surface etching with sodium ethoxide and heat induced antigen retrieval . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We investigated MPZ , myelin basic protein , and peripheral myelin protein 22 ( PMP 22 ) protein expression levels in a nerve biopsy of a Charcot Marie Tooth type 1B patient heterozygous for the Val 102 frame shift mutation . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We performed a rapid mutation screening of the PMP 22 and P 0 genes in non duplicated CMT 1 patients by single strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The genes for HMSN type Ia , Ib and an 10 linked dominant form have been identified as PMP 22 , MPZ and GJB 1 respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We have identified a severely affected CMT 1 patient who is a compound heterozygote for a recessive PMP 22 point mutation , and a 1 . 5 Mb deletion in 17p11 . 2 p 12 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Clinical symptoms are similar but more severe than Charcot Marie Tooth disease type 1 ( CMT 1 ) , of which the major subtype , CMT1A , results either from duplication of a 1 . 5 megabase DNA region in chromosome 17p11 . 2 p 12 containing the myelin gene PMP 22 , or from PMP 22 point mutation . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The gene encoding the peripheral myelin protein PMP 22 ( the critical gene in this subtype of CMT 1 ) is located within this duplication . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
It now appears that most of the HMSNs are related to mutations affecting genes encoding Schwann cell proteins , specifically the Peripheral Myelin Protein PMP 22 , Myelin Protein Zero , and one of the gap junction proteins , connexin 32 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Some patients with Dejerine Sottas syndrome ( DSS ) also have dominant and recessive point mutations in PMP 22 . ^^^ Instead of being two completely distinct disease entities , DSS and CMT1A form a spectrum of inherited PMP 22 related neuropathies , including hereditary neuropathy with liability to pressure palsies which carries a deletion of the PMP 22 gene . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Myelin protein zero ( Po ) , the major structural protein of peripheral myelin , is another integral myelin membrane protein like PMP 22 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In this study , we determined the ultrastructural distribution of PMP 22 and other myelin proteins in normal human peripheral nervous system ( PNS ) nerves and in CMT 1 patients with or without the CMT1A duplication on chromosome 17 . ^^^ Mutations affecting the PMP 22 gene have been linked to the inherited peripheral neuropathies Charcot Marie Tooth disease type 1A ( CMT1A ; duplications and point mutations ) , Dejerine Sottas syndrome ( DSS ; point mutations ) , and hereditary neuropathy with liability to pressure palsies ( HNPP ; deletions ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
At least three genes have been shown to be implicated : the 22Kda ( PMP 22 ) gene for peripheral myelin protein located in the 17p11 . 2 chromosome ( the CMT1A locus ) , the P 0 myelin protein gene located in the 1q23 chromosome ( the CMT1B locus ) , and the connexin 32 ( Cx 32 ) gene located in the Xq 13 chromosome ( CMTX locus ) . ^^^ Djerine Sortas syndrome ( DSS ) is caused by point mutations in PMP 22 and P 0 genes , whereas familial neuropathy with liability to pressure palsies ( FNPP ) or tomacular neuropathy are caused mainly by deletion of 1 , 500 kb at the CMT1A locus , although point mutations have also been described in the PMP 22 gene . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The gene encoding the peripheral myelin protein PMP 22 is affected by various mutations in the hereditary peripheral neuropathies Charcot Marie Tooth disease type 1A ( CMT1A ) , Djrine Sottas syndrome ( DSS ) and hereditary neuropathy with liability to pressure palsies ( HNPP ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
About 70 % of Japanese CMT 1 patients have a PMP 22 duplication as do Caucasians , while Japanese CMT1B , CMT 2 and Dejerine Sottas patients to not have PMP 22 gene region aneuploidy . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Most cases of CMT 1 are associated with a 1 . 5 Mb tandem duplication in 17p11 . 2 p 12 that encompasses the PMP 22 gene . ^^^ The related but more severe neuropathy , Dejerine Sottas syndrome ( DSS ) , can also be caused by mutations in the PMP 22 and MPZ genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Dominant mutations in two major peripheral myelin protein genes , PMP 22 and Po , are associated with a DSS phenotype . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
PMP 22 Thr ( 118 ) Met : recessive CMT 1 mutation or polymorphism . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
To compare the sensitivity of the mutation detection techniques single strand conformation polymorphism analysis ( SSCP ) and heteroduplex analysis ( HA ) , we analyzed a cohort of 73 patients with a diagnosis of a demyelinating neuropathy , but without the CMT1A duplication , for mutations in the coding region of the myelin genes PMP 22 , MPZ and Cx 32 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Dejerine Sottas syndrome ( DSS ) , a severe demyelinating peripheral neuropathy with onset in infancy , has been associated with mutations in either PMP 22 or MPZ . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We analyzed a 1 . 5 Mb duplication of the p11 . 2 12 region of chromosome 17 , including the PMP 22 gene ( CMT1A duplication ) , seven families with Charcot Marie Tooth disease type 1 ( CMT 1 ) and six sporadic patients with suspected CMT 1 by Southern blot analysis . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Quantitative immunohistochemical determination showed that PMP 22 protein expression relative to that of myelin protein zero and myelin basic protein was increased in all CMT1A patients and reduced in all HNPP patients , as compared with biopsy samples of patients with normal PMP 22 gene expression . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in 3 distinct myelin genes , PMP 22 , P 0 , and connexin 32 cause the 3 major demyelinating subtypes of Charcot Marie Tooth ( CMT ) disease , CMT1A , CMT1B and CMTX , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Recent progress in molecular genetics revealed that mutations affecting the PMP 22 gene including duplications , deletions , and point mutations are responsible for the most common forms of hereditary peripheral neuropathies including Charcot Marie Tooth disease type 1A ( CMT1A ) , hereditary neuropathy with liability to pressure palsies ( HNPP ) , and a subtype of Dejerine Sottas Syndrome ( DSS ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
One hundred and thirty six DNA samples of the CMT 1 and HNPP patients and of the healthy controls were negative for the potentially recessive Thr118Met PMP 22 amino acid substitution . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP 22 gene or the P 0 gene and shares considerable clinical and pathological features with CMT 1 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
CONCLUSION : We have described a novel mutation in the first extracellular loop of PMP 22 associated with an atypical CMT1A that overlaps pathologically with CMT1B caused by point mutations in the extracellular domain of P0 . . ^^^ By automated direct nucleotide sequencing we analyzed PMP 22 and the gene of the major structural myelin protein zero ( P 0 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Molecular genetics , animal models , and transfected cell studies are shedding light on function and dysfunction of proteins involved in hereditary myelinopathies peripheral myelin protein 22 ( PMP 22 ) , myelin protein zero ( PO ) , connexin 32 ( Cx 32 ) , and early growth response 2 ( EGR 2 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Western blot analyses resulted in detection of a 22 kDa protein by the PMP 22 specific antibody 558 / 2 and in exclusion of myelin protein zero ( MPZ ) expression in these cell lines . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Point mutlations in the genes encoding the myelin proteins PMP 22 and P 0 cause CMT1A without a gene duplication and CMT1B , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Here , recent findings are discussed concerning ( 1 ) the functional consequences of altered PMP 22 expression on Schwann cell growth regulation and on the capacity of genetically modified Schwann cells to myelinate peripheral axons , ( 2 ) the cell physiological effects caused by the expression of certain disease related missense mutations of PMP 22 that are known to alter the Schwann cell phenotype and impair myelination in vivo , and ( 3 ) the pathomechanism of CMT 1 in light of findings on a novel association between PMP 22 and P 0 in PNS myelin . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Further , the recently reported association of PMP 22 and P 0 in peripheral myelin sheds new light on the almost identical phenotypes of CMT1A and CMT1B giving rise to a unifying hypothesis on disease mechanism . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth disease type 1 ( CMT 1 ) is caused by mutations in the peripheral myelin protein , 22 kDa ( PMP 22 ) gene , protein zero ( P 0 ) gene , early growth response gene 2 ( EGR 2 ) and connexin 32 gene , which are expressed in Schwann cells , the myelinating cells of the peripheral nervous system . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Anti PMP 22 positive sera were detected in 70 % of patients with CMT 1 and unexpectedly in 60 % of patients with CMT 2 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP 22 gene or the Po gene and shares considerable clinical and pathological features with CMT 1 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Screening for mutations in the peripheral myelin genes PMP 22 , MPZ and Cx 32 ( GJB 1 ) in Russian Charcot Marie Tooth neuropathy patients . ^^^ Charcot Marie Tooth disease ( CMT ) and related inherited peripheral neuropathies , including Dejerine Sottas syndrome , congenital hypomyelination , and hereditary neuropathy with liability to pressure palsies ( HNPP ) , are caused by mutations in three myelin genes : PMP 22 , MPZ and Cx 32 ( GJB 1 ) . ^^^ We found twelve distinct mutations in Cx 32 , six mutations in MPZ , and two mutations in PMP 22 . ^^^ Eight mutations ( Cx 32 : Ile20Asn / Gly21Ser , Met34Lys , Leu90Val , and Phe193Leu ; MPZ : Asp134Gly , Lys138Asn , and Thr139Asn ; PMP 22 : ValSer 25 26del ) were not reported previously . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Hemizygous mutation of PMP 22 should be considered in patients with autosomal recessive CMT 1 or with severe hereditary neuropathy with liability to pressure palsy . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations of myelin protein zero ( MPZ ) and connexin 32 ( Cx 32 ) genes were examined in 70 unrelated Japanese patients with Charcot Marie Tooth disease ( CMT ) without PMP 22 gene duplication . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The molecular analysis failed to demonstrate either linkage of the disease to MPZ gene , PMP 22 gene , Cx 32 gene , orEGR 2 gene . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Immunohistochemical analysis of sciatic nerve sections revealed the same maldistribution of PMP 22 in Tr mice as in sural nerve biopsies of CMT 1 patients . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
A submicroscopic tandem duplication of 1 . 5 Mb in chromosome 17p11 . 2 12 comprising the PMP 22 gene is found in 70 . 7 % of autosomal dominant Charcot Marie Tooth type 1 ( CMT 1 ) patients . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The duplication of PMP 22 is the most common cause of the demyelinating form of the autosomal dominant Charcot Marie Tooth neuropathy ( CMT1A ) ; rarer missense mutations of PMP 22 also cause CMT1A or severe dehypomyelinating neuropathies of infancy grouped under the heading of Dejerine Sottas syndrome ( DSS ) . ^^^ Here , a sporadic patient affected with DSS is described ; nerve biopsy disclosed a picture of hypomyelination / amyelination with basal laminae onion bulbs and no florid demyelination and it was consistent with congenital hypomyelination neuropathy ( CHN ) ; molecular analysis disclosed a novel point mutation of PMP 22 that causes a non conservative arginine for cysteine substitution at codon 109 , in the third transmembrane domain . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Point mutations in peripheral myelin gene 22 ( PMP 22 ) , myelin protein zero ( MPZ ) , and connexin 32 ( Cx 32 ) have been reported in CMT 1 , and in PMP 22 in HNPP patients without deletion . ^^^ We have screened 54 CMT 1 patients , of variable clinical severity , and 25 HNPP patients from Turkey , with no duplication or deletion , for mutations in the PMP 22 and Cx 32 genes . ^^^ A novel frameshift mutation affecting the second extracellular domain of PMP 22 was found in an HNPP patient , while a point mutation in the second transmembrane domain of the protein was detected in a CMT 1 patient . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Thirty four of thirty eight CMT 1 patients ( 89 . 6 % ) had the PMP 22 duplication and the four HNPP patients had the PMP 22 deletion . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Four genes in HMSN have been characterized so far i . e . : PMP 22 , MPZ , Cx 32 and EGR 2 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Our objective was to report one other DSS patient with Ser72Leu substitution in PMP 22 and to concurrently illustrate how less invasive procedures such as skin biopsy could provide a rapid and reliable alternative to conventional sural nerve biopsy for the characterization of histophenotypic features . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Dejerine Sottas disease ( DSD ) , also called hereditary motor and sensory neuropathy type 3 ( HMSNIII ) , is a severe , infantile onset , demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP 22 gene or the P 0 gene and shares considerable clinical and pathologic features with CMT 1 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
METHODS : ( 1 ) Identification of the optimal conditions for mutation scanning by DHPLC using 50 known variants of PMP 22 , MPZ , GJB 1 and EGR 2 . ( 2 ) Comparison of DHPLC with DNA sequencing for mutation detection in 168 patient DNA samples . ^^^ RESULTS : We established the optimal conditions for screening PMP 22 , MPZ , GJB 1 , and EGR 2 for mutations . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
DNA analysis for identification of previously characterized mutations in the genes MPZ , PMP 22 , and EGR 2 was negative . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
METHODS : Mutation analysis of the Cx 32 , MPZ and PMP 22 genes were performed by PCR RFLP , PCR SSCP , PCR DGGE and / or direct sequencing in 32 CMT probands of the Hans in China . ^^^ RESULTS : 21 . 9 % of the CMT pedigrees had mutations in the Cx 32 , MPZ and PMP 22 genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Eleven patients in 6 families showed a Thr124Met mutation of the MPZ gene , in 2 families duplication of the PMP 22 gene was suggested and no abnormalities were found in 2 families . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutation analysis of the MPZ and PMP 22 genes in Croatian patients . ^^^ We used single strand conformation polymorphism analysis for mutational screening in two candidate genes , MPZ and PMP 22 , which have an important role in the pathogenesis of Charcot Marie Tooth disease ( CMT ) and related peripheral neuropathies . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Novel mutations in the Charcot Marie Tooth disease genes PMP 22 , MPZ , and GJB 1 . ^^^ Furthermore sequence variations of PMP 22 , myelin protein zero ( MPZ ) and the gap junction protein b 1 gene ( GJB 1 or Connexin 32 ) may cause a variety of distinct CMT phenotypes . ^^^ In this study we screened DNA from 42 unrelated patients for mutations in the PMP 22 , MPZ and GJB 1 genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Here , we used this model to test whether progesterone , a regulator of the myelin genes Pmp 22 and myelin protein zero ( Mpz ) in cultured Schwann cells , can modulate the progressive neuropathy caused by moderate overexpression of Pmp 22 . ^^^ Daily administration of progesterone elevated the steady state levels of Pmp 22 and Mpz mRNA in the sciatic nerve , resulting in enhanced Schwann cell pathology and a more progressive clinical neuropathy . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
A quantitative Southern blot with probes PMP 22 and VAW 409 specific for Charcot Marie Tooth type 1 ( CMT 1 ) disclosed a duplication which confirmed the diagnosis HMSN Ia . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NF L should be investigated in CMT 2 as well as in CMT 1 not associated with the usual genes PMP 22 , Cx 32 , and P0 . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Several mutations in the MTMR 2 , PMP 22 , EGR 2 , and MPZ genes have been found in patients with CHN . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutational analysis of PMP 22 , MPZ , GJB 1 , EGR 2 and NEFL in Korean Charcot Marie Tooth neuropathy patients . ^^^ We examined CMT1A duplication of 17p11 . 2 p 12 , mutations of PMP 22 , MPZ ( P 0 ) , GJB 1 ( Cx 32 ) , EGR 2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot Marie Tooth ( CMT ) disease . ^^^ The mutation frequencies of PMP 22 and MPZ were similar to those found in several European populations , however , it appeared that mutations in GJB 1 are less frequent in East Asian CMT patients than in Eur opean patients . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Eighteen families were tested for known mutations in the MPZ , PMP 22 , and GJB 1 genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In the primary peripheral demyelinating neuropathies ( CMT 1 ) , at least 15 genes have been associated with the disorders ; altered dosage or point mutation of PMP 22 , GJB 1 , MPZ , EGR 2 , MTMR 2 , NDRG 1 , PRX , SOX 10 , GDAP 1 and MTMR13 / SBF2 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Accurate diagnosis through molecular testing is available for the vast majority of patients with inherited neuropathies , resulting from mutations in three genes ( PMP 22 , MPZ , and GJB 1 ) ; the most common types of muscular dystrophies ( Duchenne and Becker , facioscapulohumeral , and myotonic dystrophies ) ; the inherited motor neuron disorders ( spinal muscular atrophy , Kennedy ' s disease , and SOD 1 related amyotrophic lateral sclerosis ) ; and many other neuromuscular disorders . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
However , median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP 22 mutations . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1A ( CMT 1 A ) is the most common inherited neuropathy in humans and is mostly caused by a 1 . 5 Mb tandem duplication of chromosome 17 comprising the gene for the peripheral myelin protein 22 kDa ( PMP 22 ) . ^^^ To test this possibility for PMP 22 overexpression , we investigated a putative mouse model for CMT 1 A , i . e . , the mouse strain C 6 1 mildly overexpressing human PMP 22 in peripheral nerves . ^^^ By gene array technology and quantitative RT PCR of peripheral nerve homogenates from PMP 22 mutants , monocyte chemoattractant protein 1 ( MCP 1 ; cc l 2 ) could be identified as a putative factor to attract or activate macrophages that attack myelin sheaths in this model of CMT 1 A . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In the demyelinating form of Charcot Marie Tooth disease with dominant inheritance , five genes have been incriminated : PMP 22 , MPZ , LITAF / SIMPLE , EGR 2 ( CMT1A to D ) , and GJB 1 ( CMTX ) . ^^^ Screening for mutations in the coding regions of PMP 22 , MPZ , EGR 2 and GJB 1 was negative . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
MPZ and PMP 22 mutations are less common , identified on average in 2 . 9 % and 1 . 5 % of patients , respectively . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP 22 , GJB 1 , MPZ , EGR 2 , and NEFL genes . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
No mutation was detected in genes PMP 22 , EGR 2 and LITAF among the remaining nine ( 28 . 1 % ) CMT 1 patients . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutation analysis of the PMP 22 , MPZ , EGR 2 , LITAF , and GJB 1 genes in Korean patients with Charcot Marie Tooth neuropathy type 1 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The Charcot Marie Tooth disease ( hereditary motor and sensory neuropathy ) loci have been reported to be on at least three chromosomes : 1 ( CMT1B , HMSN1B ) , 17 ( CMT1A ) , and 10 ( CMTX ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
While at least two distinct loci have been shown to be linked to the CMT 1 phenotype ( CMT1A and CMT1B , on chromosomes 17 and 1 , respectively ) , whether the CMT 2 phenotype results from mutations allelic to either of the CMT 1 genes remains unknown . ^^^ Studying one CMT 1 and two CMT 2 pedigrees , we were able to exclude the CMT 2 disease locus from the region of chromosome 17 ( Z = 2 . 80 at theta = 0 . 05 for D17S58 ) where the CMT1A gene maps ( Z = +3 . 67 at theta = 0 . 00 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
In particular , the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot Marie Tooth disease type 1A ( CMT1A ) , Charcot Marie Tooth disease type 1B ( CMT1B ) , and hereditary neuropathy with liability to pressure palsies ( HNPP ) have been determined . ^^^ While mutation in the gene encoding the major myelin protein , P 0 has been associated with CMT1B , CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A , or the corresponding DNA deletion in HNPP . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We analysed an extended CMT 1 pedigree ( CMT B ) without the CMT1A duplication . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
CMT 1 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1 , 500 kb in the CMT1A locus of chromosome 17p11 . 2 . ^^^ The aim of the present study was to determine the prevalence of CMT1A duplication in patients with CMT 1 and evaluate its usefulness as a biological diagnostic marker . ^^^ RESULTS : CMT1A duplication was found in 68 . 7 % of the patients with CMT 1 and in 27 . 2 % of untyped CMT patients . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy ( CMT ) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , the 10 chromosome ( CMTX ) , and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , the 10 chromosome ( CMTX ) and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17p ( CMT1A ) , chromosome 1q ( CMT1B ) , the 10 chromosome ( CMTX ) and to another unknown autosome ( CMT1C ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The CMT1A duplication was found in 68 % of the 63 unrelated CMT patients with electrophysiological studies consistent with CMT type 1 ( CMT 1 ) . ^^^ The CMT1A duplication was detected as a de novo event in two CMT 1 families . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Autosomal dominant CMT1A on chromosome 17p11 . 2 represents about 70 % of CMT 1 cases and about 50 % of all CMT cases . ^^^ CMT1B restriction enzyme analysis of CMT pedigrees without CMT1A is expected to diagnose another 8 % of at risk CMT 1 patients ( total : 78 % ) . . ^^^ CMT1B restriction enzyme analysis of CMT pedigrees without CMT1A is expected to diagnose another 8 % of at risk CMT 1 patients ( total : 78 % ) . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The CMT loci are known to map to chromosome 1 ( CMT1B ) , chromosome 17 ( CMT1A ) , the 10 chromosome ( CMTX ) , and two additional unknown autosomes ( CMT1C and CMT 2 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Three genetic loci for the Charcot Marie Tooth ( CMT ) syndromes with slow motor nerve conduction velocities ( hereditary motor and sensory neuropathy : HMSN type 1 ) have been mapped to chromosomes 1 ( CMT1B ) , 17 ( CMT1A ) , and the 10 chromosome ( CMTX ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Stable inheritance of the CMT1A DNA duplication in two patients with CMT 1 and NF 1 . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Since motor nerve conduction velocity ( MNCV ) is closely related to nerve myelination , we compared type 1A patient MNCVs versus non A CMT 1 patient MNCVs , in 57 CMT1A patients and 21 non A type 1 patients . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The majority of CMT 1 patients have a 1 . 5Mb tandem duplication ( CMT1A ) in chromosome 17p11 . 2 while most HNPP patients have a deletion of the same 1 . 5 Mb region . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We excluded by linkage analysis the three loci CMT1A ( 17p11 . 2 ) , CMT1B ( 1q22 23 ) , and CMT4A ( 8q11 21 . 1 ) responsible for demyelinating forms of CMT . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
CMT1A patients were found to be more severely affected with more prolonged distal motor latency and more reduced CMAP amplitude , whereas MNCV did not significantly differ , indicating that peripheral myelin P 0 protein point mutation is not always associated with a severe phenotype . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Following this technique we were able to identify six CMT1A duplications in 13 clinically diagnosed CMT 1 cases and five HNPP deletions in 6 clinically diagnosed HNPP cases ; 8 control persons were included in this study . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
CMT 1 , or hypertrophic form in which mutations or a duplication were found on chromosome 17 is the most frequent ( CMT1A ) , CMT 2 is the neuronal form , CMT 3 is termed the Dejerine Sottas disease , CMT 4 recessive forms , CMT 5 a form with associated pyramidal features , and CMTX . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
On the other hand , MHC class 2 expression was more variable in CMT1A and CMT1B caused by point mutations and in HNPP . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We reported a 7 year old girl with sporadic CMT 1 associated with the CMT1A duplication . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Linkage with the CMT loci already known ( CMT1A , CMT1B , CMT2A , CMT2B , CMT2D , and a number of other CMT related loci ) was excluded . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Point mutations in the gas3 / PMP22 gene account for the dominant inherited peripheral neuropathies Charcot Marie Tooth type 1A disease ( CMT1A ) and Dejerine Sottas syndrome ( DSS ) . ^^^ In conclusion , we suggest that the DSS and the CMT1A neuropathies derived from point mutations of Gas3 / PMP22 might arise , at the molecular level , from a reduced exposure of Gas3 / PMP22 at the cell surface , which is required to exert its biological functions . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Around 70 % of Charcot Marie Tooth 1 ( CMT 1 ) cases are caused by a dominantly inherited 1 . 5 Mb duplication at 17p11 . 2 12 ( CMT1A ) . ^^^ Thirty two of 46 CMT 1 cases ( 69 . 6 % ) , all heterozygous but one homozygous for the pVAW409R3a MspI polymorphism , from 12 of 21 families ( 57 . 1 % ) were positive for the CMT1A duplication . ^^^ The CMT1A frequency of duplication in Norwegian CMT 1 patients is in general agreement with those reported in other European countries and the present results show that quantitative densitometric PSL imaging is a highly reliable test in diagnosing CMT1A duplication . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
RESULTS : Twenty six ( 68 . 4 % ) of the CMT 1 patients from 9 ( 60 % ) families were positive for the CMT1A duplication which was not found in any of the controls . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Detection of CMT1A / HNPP recombination hotspot is a simple and reliable DNA diagnostic method , which is useful only for the patients with clinically already verified CMT 1 , and HNPP for further genetic counselling of patients and members of their families . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Linkage to the known CMT 2 loci ( CMT2A , CMT2B , CMT2D , CMT2F ) and mutations in the known CMT 2 genes ( Cx 32 , MPZ , NEFL ) , GAN , NEFM , and CMT1A duplication / HNPP deletion were excluded . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
To assess the frequency and features of sensory symptoms in a cohort of patients with CMT , we investigated in a prospective study 52 consecutive CMT patients , diagnosed on the basis of clinical , neurophysiological , and genetic features and classified in CMT type 1 ( CMT 1 ) ( 20 patients , including 14 with CMT1A ) and CMT type 2 ( CMT 2 ) ( 32 patients ) . ^^^ Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT 1 group . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The known loci for CMT1A , CMT2D , CMT1B ( the same locus is also responsible for CMT2I and CMT2J ) , CMT2A , CMT2E , and CMT2F were excluded in this family by linkage analysis . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We have performed the detection of 1 . 5 Mb CMT1A tandem duplication in 17p11 . 2 12 chromosome region for autosome dominant CMT 1 patients and their relatives using the analysis of two ( CA ) n polymorphic microsatellite loci : 17S921 and 17S1358 localised in the duplication region . ^^^ CMT1A duplication was found in three of five autosome dominant CMT 1 families . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Charcot Marie Tooth neuropathy type 1 ( CMT 1 ) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 ( CMT1A ) , chromosome 1 ( CMT1B ) , chromosome 16 ( CMT1C ) and chromosome 10 ( CMT1D ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The major mutation microduplication of 1 . 4 megabases in 17p11 . 2 region , which is responsible for 68 90 % of cases of CMT 1 , results in CMT1A . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charcot Marie Tooth disease type 1B ( CMT1B ) , and the more severe Dejerine Sottas syndrome ( DSS ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We have identified five novel mutations in the myelin protein zero ( MPZ ) gene , encoding the major structural protein ( P 0 ) of peripheral nerve myelin , in patients with either CMT1B , DSS , or CH . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Here we investigated the effect of DSs on medial perforant path ( MPP ) granule cell evoked transmission in freely moving rats . ^^^ Using on line detection of the DS peak , the timing of MPP stimulation relative to single DSs was controlled . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations are linked to Charcot Marie Tooth syndrome type 1B ( CMT1B ) and the more severe Dejerine Sottas syndrome ( DSS ) . ^^^ Three mutations leading to phenotypes of increasing severity ( Ser34del / CMT1B , Ser34Cys / DSS , INS663GC / DSS ) were expressed in S 2 insect cells and resulted in a decreased adhesion capability in correlation with their respective phenotypes . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in the gene encoding for the myelinating Schwann cell protein P 0 have been linked to inherited peripheral neuropathies , including the Charcot Marie Tooth type 1B disease ( CMT1B ) and Dejerine Sottas syndrome ( DSS ) . ^^^ Recently generated mice deficient in the P 0 gene ( P 0 / mice ) resemble cases of CMT1B and DSS with impaired myelin dosage ( Martini et al . , 1995a ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Molecular genetic analysis in Patient 2 disclosed a point mutation in the myelin protein zero gene ; this same point mutation has been reported in three other patients diagnosed with Dejerine Sottas syndrome ( DSS ) but has never been reported in a patient with CHN . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
This `` de novo ' ' mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot Marie Tooth type 1B disease ( CMT1B ) or Dejerine Sottas syndrome ( DSS ) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We report on two sisters with Dejerine Sottas syndrome ( DSS ) who had a heterozygous Gly 167 Arg mutation in the myelin protein zero ( MPZ ) gene and hereditary stomatocytosis ( HSt ) . ^^^ To our knowledge , these are the first familial cases of DSS with a mutation due to germline mosaicism of the MPZ gene to be reported . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Mutations in the gene for the major protein component of peripheral nerve myelin , myelin protein zero ( MPZ , P 0 ) , cause hereditary disorders of Schwann cell myelin such as Charcot Marie Tooth neuropathy type 1B ( CMT1B ) , Dejerine Sottas syndrome ( DSS ) , and congenital hypomyelinating neuropathy ( CHN ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Conclusively , truncating mutations within the P 0 intracellular domain do not necessarily cause a severe phenotype such as Dejerine Sottas syndrome ( DSS ) or congenital hypomyelinating neuropathy ( CHN ) , but can result in mild or moderate CMT1B with intrafamilial clinical variability . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
We conclude that DSS , although in general denoting a more serious neuropathy than CMT 1 , does not imply a severe disability or wheelchair dependency in adult life . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
BACKGROUND : Mutations in P 0 , the major protein of the myelin sheath in peripheral nerves , cause the inherited peripheral neuropathies Charcot Marie Tooth disease type 1B ( CMT1B ) , Dejerine Sottas syndrome ( DSS ) and congenital hypomyelination ( CH ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Myelin Protein Zero ( MPZ , P 0 ) mutations produce phenotypes ranging from adult demyelinating ( CMT1B ) to early onset [ Djrine Sottas syndrome ( DSS ) or congenital hypomyelination ] to predominantly axonal neuropathy , suggesting gain of function mechanisms . ^^^ To test this directly , we produced mice in which either the MpzS63C ( DSS ) or MpzS63del ( CMT1B ) transgene was inserted randomly , so that the endogenous Mpz alleles could compensate for any loss of mutant P 0 function . ^^^ Myelin Protein Zero ( MPZ , P 0 ) mutations produce phenotypes ranging from adult demyelinating ( CMT1B ) to early onset [ Djrine Sottas syndrome ( DSS ) or congenital hypomyelination ] to predominantly axonal neuropathy , suggesting gain of function mechanisms . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
There are reports of central conduction abnormalities in CMT 1 , however , there have been no previous reports of central nervous system ( CNS ) demyelination in HNPP . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The crossover breakpoints for hereditary neuropathy with liability to pressure palsies ( HNPP ) are located in the CMT 1 A REP repeat flanking a 1 . 5 Mb region of chromosome 17p11 . 2 12 . ^^^ Three unrelated HNPP patients have breakpoints in a 3 . 2 kb novel fragment of recombinant chromosome in the CMT 1 A REP repeat . ^^^ The precise mapping of the breakpoints indicated that 2 patients were localized in a 700 bp interval of the 1 . 2 kb fragment 1 . 3kb telomeric to a marier transposon like element ( Kiyosawa and Chance , HMG 5 : 745 753 , 1996 ) , suggesting that this region is a recombinational `` hotspot ' ' within the CMT 1 A REP repeat for HNPP as well as CMT 1 A . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The patients with the G insertion showed the clinical , electrophysiological and morphological characteristics of common HNPP , but in addition they had significantly more neuropathic features , mimicking hereditary motor and sensory neuropathy type 1 ( HMSN 1 ) or Charcot Marie Tooth disease type 1 ( CMT 1 ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
Because of mild overlap of clinical features with CMT 1 , HNPP patients may be misdiagnosed as having CMT 1 . ^^^ HNPP and CMT 1 are both demyelinating neuropathies ; however , their clinical , pathological , and electrophysiological features are quite distinct . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
The frame shift mutation Gly 94 ( insG ) combines a loss of function like in the common deletion HNPP with a mild CMT 1 phenotype , likely inducing a ( mild ) toxic gain of function by disturbing myelin formation and maintenance , comparable to the effect in missense mutations . . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
DCMAP dispersion was more frequent in nerves affected by CIDP ( 41 . 5 % ) than in Charcot Marie Tooth disease ( CMT ) 1A ( 24 . 4 % ) , CMT1B ( 7 . 4 % ) , hereditary neuropathy with liability to pressure palsies ( HNPP ) ( 10 . 5 % ) , or CMTX ( 9 . 8 % ) . ^^^
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
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Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q01453 and P25189	Pubmed	SVM Score :0.0
NA