Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
about
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohortArrhythmogenic right ventricular cardiomyopathy/dysplasiaCardiomyopathy classification: ongoing debate in the genomics eraA novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathyMutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathyThe Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathyMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 geneArrhythmogenic cardiomyopathyArrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular diseaseMutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseasesImportance of genetic evaluation and testing in pediatric cardiomyopathyGenetics and disease of ventricular muscle.The genetic background of arrhythmogenic right ventricular cardiomyopathyPathogenesis of Arrhythmogenic CardiomyopathyA missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from IsraelLocalization of the 12.6-kDa FK506-binding protein (FKBP12.6) binding site to the NH2-terminal domain of the cardiac Ca2+ release channel (ryanodine receptor)Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardiaGenetic bases of arrhythmogenic right ventricular CardiomyopathyMissense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitroThe ARVD/C genetic variants database: 2014 updateThe RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading framArrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathyArrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cellsMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyRyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practiceMutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathyIdentification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathyDefective domain-domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing heartsInherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesisMutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1)Three-dimensional reconstruction of the recombinant type 2 ryanodine receptor and localization of its divergent region 1Lamr1 functional retroposon causes right ventricular dysplasia in miceExome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesImaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathyLeaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmiasGenes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
P2860
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P2860
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@ast
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en-gb
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@nl
type
label
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@ast
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en-gb
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@nl
prefLabel
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@ast
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en-gb
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@nl
P2093
P921
P3181
P356
P1476
Identification of mutations in ...... cardiomyopathy type 2 (ARVD2)
@en
P2093
A Bagattin
A Rampazzo
B Brahmbhatt
D A Stephan
G A Danieli
G Larderet
P304
P3181
P356
10.1093/HMG/10.3.189
P407
P577
2001-02-01T00:00:00Z