| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| In the present study , the specificity of 293B for the cardiac K+ conductances IKs and IKr , and for the cloned guinea pig IsK channel and the human HERG channel , which underly IKs and IKr , respectively , was analyzed . 293B inhibited both the slowly activating K+ conductance IKs in cardiac myocytes and guinea pig IsK channels expressed in Xenopus oocytes with a similar IC 50 ( 2 6 micromol / l ) . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS AND RESULTS : The effects of ovariectomy ( OVX ) and estradiol ( E 2 ) or dihydrotestosterone ( DHT ) treatment were evaluated on HK 2 , HERG , and IsK mRNA levels , QT duration , and quinidine induced changes in QT interval in isolated rabbit hearts . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| IsK , an apparent potassium channel subunit encoded by KCNE 1 on chromosome 21 , regulates both KVLQT 1 and HERG . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| For this purpose , the potassium channels Kv1 . 1 , Kv1 . 5 , Kir2 . 1 , and HERG , and the IsK subunit of the IKs channel complex were expressed in Xenopus oocytes and two electrode voltage clamp experiments were performed . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| KCNE 1 ( IsK or MinK ) recapitulates 1 ( Ks ) when associated with KCNQ 1 , whereas it augments the amplitude of an 1 ( Kr ) like current when co expressed with HERG . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Specific blockers of HERG , KCNQ , and Isk channels had no effect on ACTH release under any condition examined . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We used a semi quantitative RT PCR technique to examine the relative expression of mRNAs for the voltage gated K ( + ) channel subunits , Kv1 . 2 , Kv1 . 4 , Kv1 . 5 , Kv2 . 1 , Kv4 . 2 , Kv4 . 3 , KvLQT 1 , HERG and IsK in samples of human atrial appendage . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| To evaluate the potential mechanisms and consequences , we studied : ( 1 ) Ranolazine ' s effects on HERG and IsK currents in Xenopus oocytes with two electrode voltage clamp ; ( 2 ) effects of ranolazine , compared to d sotalol , on effective refractory period ( ERP ) , QT interval and ventricular rhythm in a dog model of acquired long QT syndrome ; and ( 3 ) effects on selected native currents in canine atrial myocytes with whole cell patch clamp technique . ^^^ Ranolazine inhibited HERG and IsK currents with different potencies . ^^^ HERG was inhibited with an IC ( 50 ) of 106 micromol l ( 1 ) , whereas the IC ( 50 ) for IsK was 1 . 7 mmol l ( 1 ) . d Sotalol caused reverse use dependent ERP and QT interval prolongation , whereas ranolazine produced modest , nonsignificant increases that plateaued at submaximal doses . ^^^ Effects on 1 ( Kr ) and 1 ( Ks ) were similar to those on HERG and IsK . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| More than 35 mutations in four cardiac ion channel genes KVLQT 1 ( voltage gated K channel gene causing one of the autosomal dominant forms of LQTS ) ( LQT 1 ) , HERG ( human ether a go go related gene . ) ( LQT 2 ) , SCN5A ( LQT 3 ) , and KCNE 1 ( minK , LQT 5 ) have been identified in LQTS . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| INTRODUCTION : Inherited long QT syndrome ( LQTS ) recently has been associated with mutations in genes coding for potassium ( KVLQT 1 , KCNE 1 , and HERG ) or sodium ( SCN5A ) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells , resulting in prolongation of the repolarization period . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genomic structure of three long QT syndrome genes : KVLQT 1 , HERG , and KCNE 1 . ^^^ Mutations in KVLQT 1 , HERG , SCN5A , and KCNE 1 , genes encoding cardiac ion channels , cause LQT . ^^^ Familial and sporadic cases affected bymutations in KVLQT 1 , HERG , and KCNE 1 can nowbe genetically screened to identify individuals at risk of developing this disorder . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Defects have been identified in the KCNQ 1 , HERG , and KCNE 1 genes , whose proteins form the K+ channels for the slowly and rapidly inwardly rectifying K+ currents IKs and IKr . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Heterozygous mutations in 3 potassium channel genes , KVLQT 1 , KCNE 1 ( minK ) , and HERG , and the cardiac sodium channel gene SCN5A cause autosomal dominant LQT . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Four genes have been identified for the cardiac potassium ( KCNQ 1 , HERG and KCNE 1 ) and sodium ( SCN5A ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We report here 20 single nucleotide polymorphisms ( SNPs ) , including 10 novel ones , and their allelic frequencies detected in four genes that are known to be responsible for familial long QT syndrome in the Japanese population ; 7 polymorphisms are in the KCNQ 1 gene , 6 in the KCNH 2 gene , 5 in the SCN5A gene , and 2 in the KCNE 1 gene . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| All code for subunits of sodium or potassium channels : two a subunits of the potassium channels ( QVLQT 1 for LQT 1 , HERG for LQT 2 ) , the a subunit of the sodium channel INa ( SCN5A for LQT 3 ) , and two regulatory subunits of potassium channels ( KCNE 1 for LQT 5 regulating the KvLQT 1 channel and MiRP 1 regulating HERG ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| KVLQT 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 . ^^^ Five genes have been implicated in Romano Ward syndrome , the autosomal dominant form of LQTS : KVLQT 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 . ^^^ CONCLUSIONS : KVLQT 1 ( 42 % ) and HERG ( 45 % ) accounted for 87 % of identified mutations , and SCN5A ( 8 % ) , KCNE 1 ( 3 % ) , and KCNE 2 ( 2 % ) accounted for the other 13 % . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Fire genes , KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 , have been identified . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Mutations in any of the five genes KCNQ 1 , KCNH 2 , KCNE 1 , KCNE 2 , and SCN5A can be responsible for familial long QT syndrome ( LQTS ) , an arrhythmogenic disorder that entails a high risk of sudden death . beta Adrenergic blocking agents are the first therapeutic choice , and 80 % of patients treated with these agents show symptomatic relief ; however the remaining 20 % do not respond well . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Distinct gene specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes , HERG and KCNE 1 . ^^^ LQTS is caused by mutations in ion channel genes including HERG and KCNE 1 , but the precise mechanisms remain unclear . ^^^ To clarify this situation we injected adenoviral vectors expressing wild type or LQT mutants of HERG and KCNE 1 into guinea pig myocardium . ^^^ Thus , the two genes predispose to sudden death by distinct mechanisms : the KCNE 1 mutant flagrantly undermines cardiac repolarization , and HERG G628S subtly facilitates the genesis and propagation of premature beats . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Finally , genetic studies were performed prospectively in 16 consecutive patients , to look for HERG , KCNE 1 , KCNE 2 and KCNQ 1 mutations . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Heterozygous mutations in genes encoding cardiac ionic channel subunits KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 are causally involved in the dominant form of long QT syndrome ( LQTS ) while homozygous mutations in KCNQ 1 and KCNE 1 cause LQTS with or without congenital deafness . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The slow ( 1 ( Ks ) ) and fast ( 1 ( Kr ) ) components of the delayed rectifier cardiac K ( + ) current are generated by pore forming alpha subunits KCNQ 1 and KCNH 2 , respectively , in association with regulatory beta subunit KCNE 1 , KCNE 2 and perphaps KCNE 3 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Mutations in KCNQ 1 , KCNH 2 , KCNE 1 , KCNE 2 , and SCN5A genes encoding cardiac potassium and sodium ion channels cause LQT . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Western blotting and immunocytochemical analyses indicate that ERG 1 proteins were substantially expressed in both regions , whereas KCNE 1 proteins were faintly expressed in antrum and not in fundus . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Expression and coassociation of ERG 1 , KCNQ 1 , and KCNE 1 potassium channel proteins in horse heart . ^^^ In horse heart , we have used immunoblotting and immunostaining to demonstrate the expression of ERG 1 , KCNQ 1 , KCNE 1 , and KCNE 3 proteins and RT PCR to detect KCNE 2 message . ^^^ Both ERG 1 and KCNQ 1 coimmunoprecipitated with KCNE 1 . ^^^ The data also provide unique evidence for coassociation between ERG 1 and KCNE 1 in cardiac tissue . . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Heterozygous mutations in KCNQ 1 , HERG , SCN5A , KCNE 1 and KCNE 2 genes are responsible for the dominant form without deafness whereas homozygous mutations in KCNQ 1 and KCNE 1 are responsible for the recessive form ( Jervell and Lange Nielsen syndrome ) associated with congenital deafness . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Speed and sensitivity of mutation detection was improved by applying the denaturing high performance liquid chromatography ( DHPLC ) technique for analysis of the entire KCNQ 1 and KCNH 2 genes and the protein encoding part of the KCNE 1 and KCNE 2 genes . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| LQTS is caused by mutations in ion channel genes including the cardiac sodium channel gene SCN5A , and potassium channel subunit genes KCNQ 1 , KCNH 2 , KCNE 1 , and KCNE 2 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| HERG encodes the alpha subunit of channels underlying 1 ( Kr ) , while 1 ( Ks ) is composed of subunits encoded by KCNQ 1 and KCNE 1 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| To date , 6 loci have been identified with the genes responsible for the forms LQT 1 , LQT 2 , LQT 5 and LQT 6 , coding for the potassium channels ( KCNQ 1 , HERG , KCNE 1 and KCNE 2 , respectively ) which , in the heterozygote state , are responsible for the main forms of LQTS without deafness and , in the homozygote state ( KCNQ 1 and KCNE 1 ) for the recessive forms of LQTS with or without deafness . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Multiple mutations in several ion channel genes ( KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 , and KCNJ 2 ) have been shown to cause autosomal dominant long QT syndrome ( LQTS ) , a familial cardiac disorder that causes syncope , seizures , and sudden death . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic variations of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , and KCNE 2 in drug induced long QT syndrome patients . ^^^ Five cLQTS genes ( KCNH 2 , KCNQ 1 , SCN5A , KCNE 1 , KCNE 2 ) were thoroughly screened for genetic variations in 32 drug induced aLQTS patients with confirmed TdP and 32 healthy individuals . ^^^ Missense forme frust mutations were identified in four aLQTS patients : D85N in KCNE 1 ( two cases ) , T8A in KCNE 2 , and P347S in KCNH 2 . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| HERG may be associated with mink ( KCNE 1 ) and / or minK related protein ( MiRP 1 ) to form IKr , but the issue remains to be established . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS AND RESULTS : Genetic analyses of KVLQT 1 , HERG , KCNE 1 , KCNE 2 , and SCN5A detected compound mutations in 20 of 252 LQTS probands ( 7 . 9 % ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : We performed analysis of KCNQ 1 ( KVLQT 1 ) , KCNH 2 ( HERG ) , SCN5A , KCNE 1 , and KCNE 2 defects in a subgroup of 12 adult subjects with unexplained sudden death , derived from a 13 year , 270 patient autopsy series of SCD . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Mutations in five cardiac voltage gated ion channel genes , including KCNQ 1 , HERG , SCN5A , KCNE 1 and KCNE 2 , constitute the principal cause of inherited long QT syndrome ( LQTS ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| So far , six genes ( KCNQ 1 , HERG , SCN5A , ANK 2 , KCNE 1 , KCNE 2 ) have been demonstrated to be involved in the development of LQTS . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We evaluated 28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels ( KCNQ 1 , HERG , KCNE 1 , KCNE 2 , KCNE 3 , KCNE 4 , KCNE 5 , and KCNJ 2 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Comprehensive mutational analysis of the 5 LQTS causing channel genes , KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) , along with KCNJ 2 ( Andersen Tawil syndrome ) and targeted analysis of 18 CPVT 1 associated exons in RyR 2 , was performed with the use of denaturing high performance liquid chromatography and direct DNA sequencing . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic studies have identified mutations in six ion channel genes , KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 and KCNE 2 and the accessory protein Ankyrin B gene , to be responsible for this disorder . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We screened a white population for single nucleotide polymorphisms ( SNPs ) in five long QT syndrome genes , namely , KCNQ 1 ( LQT 1 ) , HERG ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ Ten SNPs were in KCNE 1 , six in HERG , eight in KCNQ 1 , four in KCNE 2 , and seven in SCN5A . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| SUBJECTS AND METHODS : Genomic DNA from 744 apparently healthy individuals 305 black , 187 white , 134 Asian , and 118 Hispanic was subject to a comprehensive mutational analysis of the 4 LQTS causing potassium channel genes : KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ RESULTS : Overall , 49 distinct amino acid altering variants ( 36 novel ) were identified : KCNQ 1 ( n = 16 ) , KCNH 2 ( n = 25 ) , KCNE 1 ( n = 5 ) , and KCNE 2 ( n = 3 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : A cardiac channel gene screen for LQTS causing mutations in KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) was performed for 541 consecutive , unrelated patients ( 358 females , average age at diagnosis 24 + / 16 years , average QTc 482 + / 57 ms ) referred to Mayo Clinic ' s Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004 . ^^^ RESULTS : Overall , 211 putative pathogenic mutations in KCNQ 1 ( 88 ) , KCNH 2 ( 89 ) , SCN5A ( 32 ) , KCNE 1 ( 1 ) , and KCNE 2 ( 1 ) were found in 272 unrelated patients ( 50 % ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Loss of function in the slow component of the delayed rectifier potassium current ( 1 ( Ks ) ) channels ( KCNQ 1 , KCNE 1 ) , the rapid component of the potassium current ( 1 ( Kr ) ) channels ( KCNH 2 , KCNE 2 ) and the inward rectifier potassium current ( 1 ( Kl ) , Kir2 . 1 ) channel ( KCNJ 2 ) is linked to the LQTSs ( type 1 , 2 , 5 , 6 , and 7 ( Andersen syndrome ) ) and the JLNSs ( type 1 and 2 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : Polymerase chain reaction and DNA sequencing were used to screen for KCNQ 1 , KCNH 2 , KCNE 1 , and SCN5A mutation . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Association of KCNQ 1 , KCNE 1 , KCNH 2 and SCN5A polymorphisms with QTc interval length in a healthy population . ^^^ In contrast , KCNH 2 2690 C ( K897T ) and SCN5A 5457 T ( D1819D ) minor alleles were significantly more frequent in the group with the shortest QTc interval , whereas KCNE 1 253 A ( D85N ) , SCN5A 1673 G ( H558R ) and 1141 3 A minor alleles were significantly more frequent in the group with the longest QTc interval . ^^^ This suggests that genetic determinants located in KCNQ 1 , KCNE 1 , KCNH 2 and SCN5A influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular diseases . . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| With this method , we identified the mutation ( s ) in all four patients with congenital LQTS ( KCNQ 1 A341V , KCNH 2 N633D , KCNH 2 2768Cdel and KCNE 1 K70 N Y81C double mutations ) . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : Between August 1997 and July 2004 , 541 consecutive , unrelated patients ( 358 females , average age at diagnosis 24 years , average QTc 482 ms ) were referred to Mayo Clinic ' s Sudden Death Genomics Laboratory for comprehensive mutational analysis of the five cardiac channel genes implicated in LQTS : KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| DNA samples were screened for 10 missense mutations in 5 genes associated with the congenital long QT ( LQT ) syndrome ( KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 ) . ^^^ Variants were identified in KCNH 2 , SCN5A and KCNE 1 . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Using a two step design we analyzed 174 SNPs from the KCNQ 1 , KCNH 2 , KCNE 1 , and KCNE 2 genes in 689 individuals from the population based KORA study and 14 SNPs with results suggestive of association in a confirmatory sample of 3277 individuals from the same survey . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Effects on the two major currents responsible for repolarization of the cardiac action potential ( mediated by the human ether gogo related gene ( HERG ) product ) , and by the potassium channel Q 1 ( KCNQ 1 ) co expressed with the potassium channel accessory subunit E 1 ( KCNE 1 ) were examined , as well as effects on the sodium inward current ( mediated by the sodium channel 5A ( SCN5A ) and generating the rapid upstroke of the action potential ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic polymorphisms in KCNQ 1 , HERG , KCNE 1 and KCNE 2 genes in the Chinese , Malay and Indian populations of Singapore . ^^^ AIMS : To determine the genetic variability of long QT syndrome ( LQTS ) associated genes ( KCNQ 1 , HERG , KCNE 1 and KCNE 2 ) among three distinct ethnic groups in the Singapore population . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The general frequency dependent modulation of the channels was unaffected by both co expression of hKCNQ 1 and HERG 1 channels , and by the presence of the beta subunits KCNE 1 and KCNE 2 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Eleven patients gave their consent to mutational analysis of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 and KCNJ 2 genes ( associated with congenital long QT syndrome ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : Using denaturing high performance liquid chromatography and DNA sequencing , mutational analysis of 23 RyR 2 exons previously implicated in CPVT 1 , comprehensive analysis of all translated exons in CASQ 2 ( CPVT 2 ) , KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , KCNE 2 ( LQT 6 ) , and KCNJ 2 ( Andersen Tawil syndrome [ ATS 1 ] , also annotated LQT 7 ) , and analysis of 10 ANK 2 exons implicated in LQT 4 were performed on genomic DNA from 11 unrelated patients ( 8 females ) referred to Mayo Clinic ' s Sudden Death Genomics Laboratory explicitly for CPVT genetic testing . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : The published primers currently used by many research laboratories to conduct a comprehensive analysis of the 60 translated exons in the KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) genes were analyzed for the presence of common intronic single nucleotide polymorphisms ( SNPs ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We report the molecular pattern of 44 unrelated patients with LQTS using denaturing high performance liquid chromatography analysis of the KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 and KCNE 2 genes . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Blood samples submitted for molecular diagnostic studies on 7 infants were subject to DNA extraction and mutation analysis of 18 selected exons in 5 LQTS genes ( KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 ) . ^^^ Except for 1 mutation in KCNE 1 , all other mutations were detected alone or in combination within HERG and the SCN5A genes . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The entire coding regions of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , and KCNE 2 were screened by denaturing high performance liquid chromatography and DNA sequencing . ^^^ RESULTS : We identified 235 different mutations , 138 of which were novel , in 310 ( 72 % ) of 430 probands ( 49 % KCNQ 1 , 39 % KCNH 2 , 10 % SCN5A , 1 . 7 % KCNE 1 , and 0 . 7 % KCNE 2 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We used electrophysiological and immunocytochemical methods to compare the cellular phenotypes of wild type minK and four LQT 5 mutants co expressed with KvLQT 1 in Xenopus oocytes and HERG in HEK 293 cells . ^^^ We conclude that minK is a co factor in the expression of both IKs and IKr and propose that clinical manifestations of LQT 5 may be complicated by differing effects of minK mutations on KvLQT 1 and HERG . . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Three of these , LQT 1 , LQT 2 , and LQT 5 , encode potassium channel subunits . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| LQT was found to be caused by mutations in four genes LTQ 1 , LQT 2 , LQT 3 and LQT 5 , and linkage was reported for an additional locus , LQT 4 , on chromosome 4q25 27 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic studies have identified four forms of congenital long QT syndrome ( LQTS ) caused by mutations in ion channel genes located on chromosomes 3 ( LQT 3 ) , 7 ( LQT 2 ) , 11 ( LQT 1 ) , and 21 ( LQT 5 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| It is becoming clear that mutations in the KVLQT 1 , human `` ether a go go ' ' related gene , cardiac voltage dependent sodium channel gene , minK and MiRP 1 genes , respectively , are responsible for the LQT 1 , LQT 2 , LQT 3 , LQT 5 and LQT 6 variants of the Romano Ward syndrome , characterized by autosomal dominant transmission and no deafness . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Congenital long QT syndrome ( LQTS ) is caused by mutations of genes encoding the slow component of the delayed rectifier current ( LQT 1 , LQT 5 ) , the rapid component of the delayed rectifier current ( LQT 2 , LQT 6 ) , or the Na ( + ) current ( LQT 3 ) , resulting in ST T wave abnormalities on the ECG . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : We enrolled 27 symptomatic patients with LQTS undergoing ICD therapy ( QTc 540 + / 64 ms ( 1 / 2 ) ; 85 % female , 63 % cardiac arrest ; 33 % syncope despite beta blockers ; 4 % with severe phenotype ) and 81 genotyped patients with LQTS undergoing conventional drug therapy ( 28 LQT 1 , 39 LQT 2 , 1 LQT 3 , 13 LQT 5 ) . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Four LQT genes have been identified : KVLQT 1 ( LQT 1 ) on chromosome 11p15 . 5 , HERG ( LQT 2 ) on chromosome 7q35 36 , SCN5A ( LQT 3 ) on chromosome 3p21 24 , and MinK ( LQT 5 ) on chromosome 21q22 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic linkage analysis excluded the regions for LQT 2 , LQT 3 , and LQT 5 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We found significant linkage of QTc with the loci for LQT 1 on chromosome 11 and LQT 4 on chromosome 4 but not to LQT 2 , LQT 3 , or LQT 5 . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| A minK HERG complex regulates the cardiac potassium current 1 ( Kr ) . ^^^ Although heterologously expressed HERG channels are largely indistinguishable from native cardiac 1 ( Kr ) , a role for minK in this current is suggested by the diminished 1 ( Kr ) in an atrial tumour line subjected to minK antisense suppression . ^^^ Here we show that HERG and minK form a stable complex , and that this heteromultimerization regulates 1 ( Kr ) activity . ^^^ |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Many genes and their mutations causing familial cardiovascular diseases have been discovered , including familial hypertrophic cardiomyopathy which is caused by mutated cardiac beta myosin heavy chain , light chains , troponin T , troponin 1 , or alpha tropomyosin , and long QT syndrome by KvLQT 1 , HERG , minK or cardiac voltage dependent Na channel mutation . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The chromanol derivate 293B blocks currents expressed by minK and not HERG in Xenopus oocytes , but little is known about its effects on native currents and action potentials . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Four LQT genes have been identified for autosomal dominant LQT : K+ channel genes KVLQT 1 on chromosome 11p15 . 5 , HERG on 7q35 36 and minK on 21q22 , and the cardiac Na+ channel gene SCN5A on chromosome 3p21 24 . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| In this review , we summarize recent studies of the biophysical and pharmacological properties of HERG and KvLQT1 / minK K ( + ) channels . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Recent advances in molecular genetics have allowed to identify mutations in four genes , KvLQT 1 ( 11p15 . 5 ) , HERG ( 7q35 ) , SCN5A ( 3p21 ) and minK ( 21q22 ) , which cause LQTS . ^^^ The KvLQT 1 and minK genes code the slowly activating , delayed rectifier ( Iks ) potassium channel , the HERG gene code the rapidly activating , delayed rectifier ( Ikr ) potassium channel of the heart , while the SCN5A gene codes a cardiac sodium channel . ^^^ Mutations in KvLQT 1 , minK and HERG genes affects repolarising , rectifier potassium currents , while SCN5A mutations cause delayed inactivation and reopening of the cardiac sodium channel , which initiates the depolarisation of cardiac cells . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| No specific role of the minK subunit in the HERG block mechanism could be determined . . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The summation of cAMP mediated effects is a net diminution of the effective current , but when HERG is complexed with with the K ( + ) channel accessory proteins MiRP 1 or minK , the stimulatory effects of cAMP are favored . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The mRNA amounts of KVLQT 1 ( IKs ) , minK ( beta subunit of IKs ) , HERG ( IKr ) , and KV1 . 5 ( IKur ) were measured by reverse transcription polymerase chain reaction and normalized to the mRNA amount of GAPDH . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| In the case of the arrhythmogenic disorders , the long QT syndromes and Brugada syndrome , mutations have been described in a number of ion channel proteins , including cardiac potassium ( KVLQT 1 , HERG and minK ) and sodium ( SCN5A ) channels . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| These include two potassium channel alpha subunits ( KVLQT 1 and HERG ) , two potassium channel beta subunits ( minK and MiRP 1 ) , and one sodium channel gene ( SCN5A ) . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Protein levels for the L type Ca ( 2+ ) channel and 5 potassium channels ( Kv4 . 3 , Kv1 . 5 , HERG , minK , and Kir3 . 1 ) were significantly reduced in both persistent and paroxysmal AF . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The short term effects of amiodarone were also determined in XENOPUS : oocytes expressing the cloned human channels that conduct 1 ( Kr ) and 1 ( Ks ) ( HERG and KvLQT1 / minK ) . ^^^ HERG current in oocytes was reduced by amiodarone ( IC ( 50 ) =38 micromol / L ) , whereas KvLQT1 / minK current was unaffected by 300 micromol / L amiodarone . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| These include two potassium channel alpha subunits ( KVLQT 1 , HERG ) , two potassium channel beta subunits ( minK , MiRP 1 ) , and one sodium channel gene ( SCN5A ) . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Consistent with these hypotheses , N and C terminal variants of ERG 1 have been identified , and it has been demonstrated that heterologously expressed ERG 1 and minK ( or MiRP 1 ) coimmunoprecipitate . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The inhibitory effects of the anesthetic barbiturate pentobarbital on the slow ( 1 ( Ks ) ) and fast component ( 1 ( Kr ) ) of cardiac delayed rectifier potassium currents ( 1 ( K ) ) and on the inward rectifier potassium currents ( 1 ( K 1 ) ) were examined in Xenopus oocytes expressing the human minK , human ether go go related gene ( HERG ) and guinea pig Kir2 . 2 , respectively . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| To investigate whether MinK , MiRP 1 , and MiRP 2 operate similarly with their known native alpha subunit partners ( KCNQ 1 , HERG , and Kv3 . 4 , respectively ) two conserved residues associated with human disease and influential in channel function were evaluated . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Although it has been suggested that coexpression of minK related peptide ( MiRP 1 ) is required for reconstitution of native rapid delayed rectifier current ( 1 ( Kr ) ) by human ether a go go related gene ( HERG ) , currents resulting from HERG ( 1 ( HERG ) ) and HERG plus MiRP 1 expression have not been directly compared with native 1 ( Kr ) . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Nifekalant inhibited the HERG current in a concentration dependent manner with an IC ( 50 ) value of 7 . 9 microM although the drug did not inhibit the minK current in Xenopus oocytes , suggesting selective inhibition of the rapid component of the delayed rectifier K ( + ) current ( 1 ( Kr ) ) in cardiomyocytes . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Coexpression of HERG with the beta subunits minK or hMiRP 1 did not alter the effect of PMA . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| MinK and MiRP 1 are single transmembrane domain peptides that can co assemble with hERG in heterologous systems . ^^^ MinK increases hERG currents by an unknown mechanism . ^^^ Here we discuss key aspects of the debate surrounding the potential roles of MinK and MiRP 1 in IKr : inconsistencies between reports of the effects of MiRP 1 on hERG in vitro ; association with long QT syndrome of inherited mutations in MinK and MiRP 1 ; and a role for MiRP 1 polymorphisms in acquired arrhythmia despite the apparent inability of MiRP 1 to impinge upon the unique inner vestibule drug binding site that dominates hERG pharmacology . . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The diagnostic analyses are performed by sequencing the exons of five genes , KCNQ 1 , HERG , SCN5A , minK and MiRP 1 . ^^^ |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: P15382 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
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