| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| DNA of the propositus was screened for mutations by conformation sensitive gel electrophoresis in all known candidate genes for MED , cartilage oligomeric matrix protein , and the COL9A1 , COL9A2 , and COL9A3 genes coding for the alpha 1 , alpha 2 , and alpha 3 chains of collagen 9 . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Based on discordant inheritance among affected individuals linkage of the phenotype to the COMP , COL9A1 , COL9A2 , COL9A3 genes was excluded . ^^^ Our study provides evidence that at least another locus , distinct from COL9A1 , is involved in autosomal dominant MED . . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Genetic linkage analysis of 14 candidate genes resulted in the exclusion of 10 important genes ( COL2A1 , COL9A1 , COL9A2 , COL11A1 , COL11A2 , COMP , the CPDD region , CRTL 1 , CRTM , and MMP 3 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| We report here one family with MED , evaluated clinically and radiologically and tested for linkage with candidate genes , including COMP , COL9A1 , COL9A2 , and COL9A3 . ^^^ No linkage was found with COMP , COL9A1 , or COL9A2 , but an inheritance pattern consistent with linkage was observed with COL9A3 . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in four genes , COL9A2 , COL9A3 , COMP , and MATR 3 , all coding for cartilage extracellular matrix components ( i . e . , the alpha 2 and alpha 3 chains of collagen 9 , cartilage oligomeric matrix protein , and matrilin 3 ) , have been identified in this disease so far , but no mutations have yet been reported in the third collagen 9 gene , COL9A1 , which codes for the alpha 1 ( 9 ) chain . ^^^ Recombination was observed between COL9A1 , COL9A2 , COL9A3 , and COMP and the MED phenotype in two of the families , and between COL9A2 , COL9A3 , and COMP and the phenotype in the other two families . ^^^ The analysis resulted in identification of three mutations in COMP and one in COL9A1 , but none in the other two collagen 9 genes . ^^^ The results show that mutations in COL9A1 can cause MED , but they also suggest that mutations in COL9A1 , COL9A2 , COL9A3 , COMP , and DTDST are not the major causes of MED and that there exists at least one additional locus . . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations causing MED have now been identified in five other genes ( COL9A1 , COL9A2 , COL9A3 , DTDST , and MATN 3 ) , making MED one of the most genetically heterogeneous disorders . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein ( COMP ) whereas various forms of MED are caused by mutations in the genes encoding COMP , type 9 collagen ( COL9A1 , COL9A2 , and COL9A3 ) , matrilin 3 ( MATN 3 ) , and solute carrier member 26 , member 2 gene ( SLC26A2 ) . ^^^ PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein ( COMP ) whereas various forms of MED are caused by mutations in the genes encoding COMP , type 9 collagen ( COL9A1 , COL9A2 , and COL9A3 ) , matrilin 3 ( MATN 3 ) , and solute carrier member 26 , member 2 gene ( SLC26A2 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Six genes responsible for MED have been identified , including COMP , COL9A1 , COL9A2 , COL9A3 , DSTDT and MATN 3 . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in six genes ( COMP , COL9A1 , COL9A2 , COL9A3 , MATN 3 and DTDST ) have been reported , but the genotype phenotype correlations and the proportions of cases due to mutations in these genes are still not well characterized . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Six causative genes of MED have been reported , including type 9 collagen genes ( COL9A1 , COL9A2 , COL9A3 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Six genes involved in MED , COMP , MATN 3 , COL9A1 , COL9A2 , COL9A3 , and DTDST have been identified ; however , the presence of additional disease genes has been reported , and the detection rate for mutations in known genes accounts for no more than 50 % of patients with MED in Western populations . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function . . ^^^ Pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) are dominantly inherited chondrodysplasias characterized by short stature and early onset osteoarthrosis . ^^^ The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19 . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Some forms of MED clinically resemble another chondrodysplasia phenotype , the mild form of pseudoachondroplasia ( PSACH ) . ^^^ On the basis of their clinical similarities as well as similar ultrastructural and biochemical features in cartilage from some patients , it has been proposed that MED and PSACH belong to a single bone dysplasia family . ^^^ Recently , both mild and severe PSACH as well as a form of MED have been linked to the same interval on chromosome 19 , suggesting that they may be allelic disorders . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| The identification of exons from the MED / PSACH region of human chromosome 19 . ^^^ This region contains the genes responsible for multiple epiphyseal dysplasia ( MED ) and pseudoachondroplasia ( PSACH ) . ^^^ Mutations in this latter gene have recently been shown to be responsible for MED and PSACH . . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| In this paper we document mild MED in a South African kindred , and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein ( COMP ) gene causes the condition . ^^^ The identification of this mutation demonstrates that the spectrum of manifestations from mild MED through pseudoachondroplasia can all be produced by structural mutations in COMP . . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein ( COMP ; OMIM 600310 [ http : / / www3 . ncbi . nlm . nih . gov : 80 / htbin post / Omim / dispmim ? 600310 ] ) . ^^^ We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes . ^^^ In two families , one with mild PSACH and the second with a form of MED , we identified different substitutions for a residue in the carboxyl terminal globular region of COMP . ^^^ Both the clinical presentations of these two families and the identification of COMP gene mutations provide evidence of phenotypic overlap between PSACH and MED . ^^^ Pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) are autosomal dominant osteochondrodysplasias that result in mild to severe short limb dwarfism and early onset osteoarthrosis . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| We conducted a prospective study comparing three commonly used cuffed central venous haemodialysis catheters : ( 1 ) PermCath , Quinton Instrument Co , Seattle ; ( 2 ) Tesio , Med Comp , Inc , Harleysville PA ; ( 3 ) VasCath Soft Cell , Bard Instrument Company , Toronto , and compared them with control patients dialysing with arteriovenous access ( AV ) access . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| A problem in diagnosing pseudoachondroplasia ( PSACH ) is that the pathognomonic changes of vertebral bodies invariably disappear around the age of 10 , and an adult case might subsequently be misdiagnosed as MED , Fairbank type , though the latter is less severe than PSACH . ^^^ She might not have been diagnosed only as PSACH but also as MED , Fairbank type , after disappearance of the typical vertebral body changes because of the apparent lack of stubby fingers . ^^^ Since the overlap of PSACH and MED has recently been discussed from the viewpoint of molecular biology , study of the spectrum of clinical features of PSACH is important . . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| To characterize further COMP mutations and investigate phenotype genotype relationships , we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA . ^^^ These genotype phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED , and provide insight into the relationship between structure and function of the COMP gene product . . ^^^ Pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease . ^^^ We have found that the GAC repeats in the 7th calmodulin like repeat in exon 13 represent a hot spot for mutation , and that mutations in the 7th calmodulin like repeat produce severe PSACH phenotypes while mutations elsewhere in the gene exhibit mild PSACH or MED phenotypes . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene encoding cartilage oligomeric matrix protein have been shown to result in several types of MED , whereas mutations in the gene encoding the alpha 2 chain of type 9 collagen ( COL9A2 ) have so far been found only in two families with the Fairbank type of MED . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Previous investigations have demonstrated regeneration of the neural stem and neural lobe in a variety of mammalian species ( Adams et al . , J Comp Neurol , 1969 ; 135 : 121 144 ; Beck et al . , Neuroendocrinology , 1969 ; 5 : 161 182 ; Scott et al . , Exp Neurol , 1995 ; 131 1 : 23 39 ; Scott and Hansen , Vir Med 1997 ; 124 : 249 261 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Multiple epiphyseal dysplasia ( MED ) is a degenerative cartilage condition shown in some cases to be caused by mutations in genes encoding cartilage oligomeric matrix protein or type 9 collagen . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : To develop transgenic mice harboring mutations in the COMP gene as animal models for pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) , autosomal dominant disorders characterized by early onset osteoarthritis and epiphyseal abnormalities . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in type 3 repeats of cartilage oligomeric matrix protein ( COMP ) cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ A recombinant PSACH mutant COMP in which Asp 469 was deleted ( D 469 Delta ) and a MED mutant COMP in which Asp 361 was substituted by Tyr ( D361Y ) were both secreted into the cell culture medium of human cells . ^^^ The PSACH and MED mutations reduce the binding to collagens 1 , 2 , and 9 and result in an altered zinc dependence . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) are two human autosomal dominant skeletal dysplasias characterized by variable short stature , joint laxity and early onset degenerative joint disease . ^^^ We have identified two expansion mut ations in this repeat : an MED patient carrying a ( GAC ) 6allele and a PSACH patient carrying a ( GAC ) 7allele . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| By linkage analysis we excluded linkage with the three known MED loci ( EDM 1 , EDM 2 and EDM 3 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : A subgroup of patients with pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) have been found to harbor mutations within the cartilage oligomeric matrix protein ( COMP ) gene . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene encoding cartilage oligomeric matrix protein ( COMP ) cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ Here we report the identification of nine novel and three recurrent COMP mutations in PSACH and MED patients . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia ( MED ) , Ribbing type , as well as allied disorders with more severe manifestations , such as MED Fairbank type and pseudoachondroplasia . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the cartilage oligomeric matrix protein ( COMP ) gene are responsible for two dominantly inherited skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ Mutation analysis of the COMP gene in Korean patients with PSACH and MED was performed . ^^^ All nine patients with PSACH had mutations in the COMP gene , while three of the five patients with MED had detectable COMP mutations . ^^^ Eight mutations , including three novel mutations , were identified in the COMP gene in the patients with PSACH and MED . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| MED is genetically heterogeneous , with autosomal dominant cases resulting from mutations in at least three genes : the cartilage oligomeric matrix protein ( COMP ) gene ( EDM 1 ) and the COL9A2 ( EDM 2 ) and COL9A3 ( EDM 3 ) genes of type 9 procollagen . ^^^ We present here a comparison of the radiographic phenotypes of MED patients with type 9 collagen gene mutations and those with COMP gene mutations . ^^^ We reviewed radiographs from two patients with MED produced by COMP mutations , two families with COL9A2 mutations , and one family with a mutation in COL9A3 . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the genes encoding cartilage oligomeric matrix protein ( COMP ) and type 9 collagen ( COL9A2 and COL9A3 ) have previously been shown to cause different forms of MED ( refs . 4 13 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Typically , mutations in exon 13 that composes the seventh CLR produce severe PSACH phenotypes , whereas mutations found elsewhere in the gene produce mild PSACH or MED phenotypes . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the COMP gene result in the autosomal dominant chondrodysplasias pseudoachondroplasia ( PSACH ) and some types of multiple epiphyseal dysplasia ( MED ) , which are characterized by mild to severe short limb dwarfism and early onset osteoarthritis . ^^^ The results also show that the phenotype in PSACH / MED cartilage disorders is not caused by the reduced amount of COMP . . ^^^ These mice show no anatomical , histological , or ultrastructural abnormalities and show none of the clinical signs of PSACH or MED . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| The disorders include `` classic MED ' ' ( Ribbing and Fairbank types ) : MED that is caused by mutations in the cartilage oligomeric matrix protein ( COMP ) , type 9 collagen , and matrilin 3 genes ( MATN 3 ) ; and MED with multilayered patella , brachydactyly , and clubbed feet resultant from mutations in gene defect diastrophic dysplasia ( DTDST ) . ^^^ MED , COMP , multilayered and NEIN : an overview of multiple epiphyseal dysplasia . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein ( COMP ) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED , we developed an efficient and accurate molecular diagnostic service for the COMP gene . ^^^ In a 36 month period , 100 families were screened for a mutation in COMP and we identified disease causing mutations in 78 % of PSACH families and 36 % of MED families . ^^^ Two such diseases are pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) , which result in varying degrees of short stature , joint pain and stiffness and often resulting in early onset osteoarthritis . ^^^ PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein ( COMP ) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED , we developed an efficient and accurate molecular diagnostic service for the COMP gene . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Mutations in the cartilage oligomeric matrix protein ( COMP ) gene cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) , which are autosomal dominant disorders characterized by short limb dwarfism . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : Cartilage oligomeric matrix protein ( COMP ) mutations have been identified as responsible for two arthritic disorders , multiple epiphyseal dysplasia ( MED ) and pseudoachondroplasia ( PSACH ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| Inter and intra examiner reproducibility were calculated using Lin ' s intra class correlation coefficient ( ICCLin ) and the limits of agreement by Bland and Altman ( Comp Biol Med 1990 ; 20 : 337 ) . ^^^ |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P20849 and P49747 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| In this paper we document mild MED in a South African kindred , and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein ( COMP ) gene causes the condition . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein ( COMP ; OMIM 600310 [ http : / / www3 . ncbi . nlm . nih . gov : 80 / htbin post / Omim / dispmim ? 600310 ] ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene encoding cartilage oligomeric matrix protein have been shown to result in several types of MED , whereas mutations in the gene encoding the alpha 2 chain of type 9 collagen ( COL9A2 ) have so far been found only in two families with the Fairbank type of MED . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Multiple epiphyseal dysplasia ( MED ) is a degenerative cartilage condition shown in some cases to be caused by mutations in genes encoding cartilage oligomeric matrix protein or type 9 collagen . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| DNA of the propositus was screened for mutations by conformation sensitive gel electrophoresis in all known candidate genes for MED , cartilage oligomeric matrix protein , and the COL9A1 , COL9A2 , and COL9A3 genes coding for the alpha 1 , alpha 2 , and alpha 3 chains of collagen 9 . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene encoding cartilage oligomeric matrix protein ( COMP ) cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the cartilage oligomeric matrix protein ( COMP ) gene are responsible for two dominantly inherited skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the cartilage oligomeric matrix protein ( COMP ) gene cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) , which are autosomal dominant disorders characterized by short limb dwarfism . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : Cartilage oligomeric matrix protein ( COMP ) mutations have been identified as responsible for two arthritic disorders , multiple epiphyseal dysplasia ( MED ) and pseudoachondroplasia ( PSACH ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| The disorders include `` classic MED ' ' ( Ribbing and Fairbank types ) : MED that is caused by mutations in the cartilage oligomeric matrix protein ( COMP ) , type 9 collagen , and matrilin 3 genes ( MATN 3 ) ; and MED with multilayered patella , brachydactyly , and clubbed feet resultant from mutations in gene defect diastrophic dysplasia ( DTDST ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in type 3 repeats of cartilage oligomeric matrix protein ( COMP ) cause two skeletal dysplasias , pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| MED is genetically heterogeneous , with autosomal dominant cases resulting from mutations in at least three genes : the cartilage oligomeric matrix protein ( COMP ) gene ( EDM 1 ) and the COL9A2 ( EDM 2 ) and COL9A3 ( EDM 3 ) genes of type 9 procollagen . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the genes encoding cartilage oligomeric matrix protein ( COMP ) and type 9 collagen ( COL9A2 and COL9A3 ) have previously been shown to cause different forms of MED ( refs . 4 13 ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in four genes , COL9A2 , COL9A3 , COMP , and MATR 3 , all coding for cartilage extracellular matrix components ( i . e . , the alpha 2 and alpha 3 chains of collagen 9 , cartilage oligomeric matrix protein , and matrilin 3 ) , have been identified in this disease so far , but no mutations have yet been reported in the third collagen 9 gene , COL9A1 , which codes for the alpha 1 ( 9 ) chain . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein ( COMP ) whereas various forms of MED are caused by mutations in the genes encoding COMP , type 9 collagen ( COL9A1 , COL9A2 , and COL9A3 ) , matrilin 3 ( MATN 3 ) , and solute carrier member 26 , member 2 gene ( SLC26A2 ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : A subgroup of patients with pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) have been found to harbor mutations within the cartilage oligomeric matrix protein ( COMP ) gene . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| We conducted a prospective study comparing three commonly used cuffed central venous haemodialysis catheters : ( 1 ) PermCath , Quinton Instrument Co , Seattle ; ( 2 ) Tesio , Med Comp , Inc , Harleysville PA ; ( 3 ) VasCath Soft Cell , Bard Instrument Company , Toronto , and compared them with control patients dialysing with arteriovenous access ( AV ) access . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| To characterize further COMP mutations and investigate phenotype genotype relationships , we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA . ^^^ These genotype phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED , and provide insight into the relationship between structure and function of the COMP gene product . . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| We report here one family with MED , evaluated clinically and radiologically and tested for linkage with candidate genes , including COMP , COL9A1 , COL9A2 , and COL9A3 . ^^^ No linkage was found with COMP , COL9A1 , or COL9A2 , but an inheritance pattern consistent with linkage was observed with COL9A3 . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Previous investigations have demonstrated regeneration of the neural stem and neural lobe in a variety of mammalian species ( Adams et al . , J Comp Neurol , 1969 ; 135 : 121 144 ; Beck et al . , Neuroendocrinology , 1969 ; 5 : 161 182 ; Scott et al . , Exp Neurol , 1995 ; 131 1 : 23 39 ; Scott and Hansen , Vir Med 1997 ; 124 : 249 261 ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : To develop transgenic mice harboring mutations in the COMP gene as animal models for pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) , autosomal dominant disorders characterized by early onset osteoarthritis and epiphyseal abnormalities . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein ( COMP ) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED , we developed an efficient and accurate molecular diagnostic service for the COMP gene . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function . . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Genetic linkage analysis of 14 candidate genes resulted in the exclusion of 10 important genes ( COL2A1 , COL9A1 , COL9A2 , COL11A1 , COL11A2 , COMP , the CPDD region , CRTL 1 , CRTM , and MMP 3 ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Based on discordant inheritance among affected individuals linkage of the phenotype to the COMP , COL9A1 , COL9A2 , COL9A3 genes was excluded . ^^^ Mutations in the COMP gene and in two genes ( COL9A2 ; COL9A3 ) , coding respectively for the alpha 2 ( 9 ) and alpha 3 ( 9 ) chains of type 9 collagen , can cause the autosomal dominant forms of MED . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Given the clinical similarity between PSACH and MED , it was not surprising that the first MED locus identified was the COMP gene ( EDM 1 ) . ^^^ This article reviews the clinical features of PSACH and MED , the known mutations , and the pathogenetic effect of COMP mutations on the cartilage extracellular matrix . . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in the COMP gene result in the autosomal dominant chondrodysplasias pseudoachondroplasia ( PSACH ) and some types of multiple epiphyseal dysplasia ( MED ) , which are characterized by mild to severe short limb dwarfism and early onset osteoarthritis . ^^^ The results also show that the phenotype in PSACH / MED cartilage disorders is not caused by the reduced amount of COMP . . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia ( MED ) , Ribbing type , as well as allied disorders with more severe manifestations , such as MED Fairbank type and pseudoachondroplasia . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Inter and intra examiner reproducibility were calculated using Lin ' s intra class correlation coefficient ( ICCLin ) and the limits of agreement by Bland and Altman ( Comp Biol Med 1990 ; 20 : 337 ) . ^^^ |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Six genes responsible for MED have been identified , including COMP , COL9A1 , COL9A2 , COL9A3 , DSTDT and MATN 3 . ^^^ We examined MATN 3 mutations in 27 Japanese MED patients who were possibly autosomal dominant inheritance and had been excluded for COMP mutations . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Mutations in six genes ( COMP , COL9A1 , COL9A2 , COL9A3 , MATN 3 and DTDST ) have been reported , but the genotype phenotype correlations and the proportions of cases due to mutations in these genes are still not well characterized . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Six genes involved in MED , COMP , MATN 3 , COL9A1 , COL9A2 , COL9A3 , and DTDST have been identified ; however , the presence of additional disease genes has been reported , and the detection rate for mutations in known genes accounts for no more than 50 % of patients with MED in Western populations . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| By linkage analysis we excluded linkage with the three known MED loci ( EDM 1 , EDM 2 and EDM 3 ) . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Six causative genes of MED have been reported , including type 9 collagen genes ( COL9A1 , COL9A2 , COL9A3 ) . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Some forms of MED clinically resemble another chondrodysplasia phenotype , the mild form of pseudoachondroplasia ( PSACH ) . ^^^ On the basis of their clinical similarities as well as similar ultrastructural and biochemical features in cartilage from some patients , it has been proposed that MED and PSACH belong to a single bone dysplasia family . ^^^ Recently , both mild and severe PSACH as well as a form of MED have been linked to the same interval on chromosome 19 , suggesting that they may be allelic disorders . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| The identification of exons from the MED / PSACH region of human chromosome 19 . ^^^ This region contains the genes responsible for multiple epiphyseal dysplasia ( MED ) and pseudoachondroplasia ( PSACH ) . ^^^ Mutations in this latter gene have recently been shown to be responsible for MED and PSACH . . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| A problem in diagnosing pseudoachondroplasia ( PSACH ) is that the pathognomonic changes of vertebral bodies invariably disappear around the age of 10 , and an adult case might subsequently be misdiagnosed as MED , Fairbank type , though the latter is less severe than PSACH . ^^^ She might not have been diagnosed only as PSACH but also as MED , Fairbank type , after disappearance of the typical vertebral body changes because of the apparent lack of stubby fingers . ^^^ Since the overlap of PSACH and MED has recently been discussed from the viewpoint of molecular biology , study of the spectrum of clinical features of PSACH is important . . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Pseudoachondroplasia ( PSACH ) and multiple epiphyseal dysplasia ( MED ) are two human autosomal dominant skeletal dysplasias characterized by variable short stature , joint laxity and early onset degenerative joint disease . ^^^ We have identified two expansion mut ations in this repeat : an MED patient carrying a ( GAC ) 6allele and a PSACH patient carrying a ( GAC ) 7allele . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| Typically , mutations in exon 13 that composes the seventh CLR produce severe PSACH phenotypes , whereas mutations found elsewhere in the gene produce mild PSACH or MED phenotypes . ^^^ |
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| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P20849 |
Pubmed |
SVM Score :0.0 |
| NA |
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