A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias

International Journal of Molecular Medicine

Volumn 35, Issue 2, 2015, Pages 478-486

  Yuan, Fang ^a,b   Qiu, Xing Biao ^b   Li, Ruo Gu ^b   Qu, Xin Kai ^b   Wang, Juan ^c   Xu, Ying Jia ^b   Liu, Xu ^b   Fang, Wei Yi ^b   Yang, Yi Qing ^b   Liao, De Ning ^a  

^a SECOND MILITARY MEDICAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c TONGJI UNIVERSITY   (China)

Author keywords

Dilated cardiomyopathy; Genetics; NKX2 5; Reporter gene; Transcription factor

Indexed keywords

SERINE; TRANSCRIPTION FACTOR NKX2.5; TRYPTOPHAN; HOMEODOMAIN PROTEIN; NKX2-5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; COHORT ANALYSIS; COMPLETE HEART BLOCK; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HEART DEVELOPMENT; HEART VENTRICLE EXTRASYSTOLE; HUMAN; LOSS OF FUNCTION MUTATION; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MIDDLE AGED; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; SECOND DEGREE ATRIOVENTRICULAR BLOCK; SITE DIRECTED MUTAGENESIS; WILD TYPE; CASE CONTROL STUDY; CLINICAL TRIAL; GENETICS; HEART ARRHYTHMIA; METABOLISM; PATHOLOGY;

ADULT; ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHY, DILATED; CASE-CONTROL STUDIES; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; TRANSCRIPTION FACTORS;

EID: 84919607851     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2014.2029     Document Type: Article

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