SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia

scientific article

SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00059-013-3998-5
P698PubMed publication ID24317018

P2093author name stringQ Chen
X Liu
J Yu
Y Shen
J Hu
K Hong
Q Cao
X Dai
W Hua
Q Xiong
P2860cites workMechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutationsQ24306468
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratodermaQ28143046
Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cellsQ28239265
Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytesQ28254076
Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency.Q28270379
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathyQ28280387
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathyQ28288328
The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteinsQ28291070
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).Q33910305
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathyQ34158032
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathyQ34568365
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromesQ35197101
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.Q36131473
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathyQ36716425
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCsQ37120932
The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathyQ38000066
ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptorQ38630423
Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathyQ39977115
Genome-wide association identifies a deletion in the 3' untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathyQ42140324
Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation.Q46674463
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.Q54332402
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.Q55638651
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1Q55670706
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)Q59218717
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patientsQ83170002
P433issue2
P304page(s)271-275
P577publication date2013-12-08
P1433published inHerzQ2143725
P1476titleSCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia
P478volume39

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cites work (P2860)
Q28069859Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders
Q38268280Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
Q57486424Disease Modifiers of Inherited Channelopathy
Q64119517Epsilon wave: A review of historical aspects
Q51204140Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Q36216129Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation
Q41776920Nature and Nurture in Arrhythmogenic Right Ventricular Cardiomyopathy - A Clinical Perspective

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