Pages that link to "Q24290749"
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The following pages link to Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) (Q24290749):
Displaying 50 items.
- Ryanodine receptor 2 (Q3415811) (← links)
- RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort (Q21131998) (← links)
- Arrhythmogenic right ventricular cardiomyopathy/dysplasia (Q21202959) (← links)
- Cardiomyopathy classification: ongoing debate in the genomics era (Q21284968) (← links)
- A calcium sensor in the sodium channel modulates cardiac excitability (Q24292215) (← links)
- Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features (Q24294249) (← links)
- Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak (Q24296910) (← links)
- A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy (Q24296914) (← links)
- Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q24299388) (← links)
- Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia (Q24299780) (← links)
- Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q24300083) (← links)
- Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (Q24306039) (← links)
- New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes (Q24309139) (← links)
- Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy (Q24310389) (← links)
- The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy (Q24311983) (← links)
- FKBP12.6 binding of ryanodine receptors carrying mutations associated with arrhythmogenic cardiac disease (Q24312162) (← links)
- Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes (Q24315860) (← links)
- Many roads lead to a broken heart: the genetics of dilated cardiomyopathy (Q24535744) (← links)
- Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene (Q24656100) (← links)
- Arrhythmogenic cardiomyopathy (Q26753099) (← links)
- Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular disease (Q27024037) (← links)
- Mutations 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 diseases (Q27024101) (← links)
- Importance of genetic evaluation and testing in pediatric cardiomyopathy (Q27024601) (← links)
- arrhythmogenic right ventricular dysplasia 2 (Q27164435) (← links)
- Genetics and disease of ventricular muscle (Q27691994) (← links)
- The genetic background of arrhythmogenic right ventricular cardiomyopathy (Q28074493) (← links)
- Pathogenesis of Arrhythmogenic Cardiomyopathy (Q28085550) (← links)
- A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair (Q28188924) (← links)
- A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel (Q28204838) (← links)
- Localization 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) (Q28215774) (← links)
- The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations (Q28216379) (← links)
- Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia (Q28216442) (← links)
- Genetic bases of arrhythmogenic right ventricular Cardiomyopathy (Q28249805) (← links)
- A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q28250468) (← links)
- Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro (Q28255024) (← links)
- The ARVD/C genetic variants database: 2014 update (Q28256845) (← links)
- The 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 [...] (Q28265202) (← links)
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 (Q28267888) (← links)
- Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q28268639) (← links)
- Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells (Q28272142) (← links)
- Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q28274829) (← links)
- RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR) (Q28278038) (← links)
- Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice (Q28279991) (← links)
- Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy (Q28280387) (← links)
- Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (Q28287122) (← links)
- Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy (Q28300361) (← links)
- Defective domain-domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing hearts (Q28300366) (← links)
- Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis (Q28308142) (← links)
- Mutations 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) (Q28363303) (← links)
- Three-dimensional reconstruction of the recombinant type 2 ryanodine receptor and localization of its divergent region 1 (Q28505252) (← links)