GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve

International Journal of Molecular Medicine

Volumn 33, Issue 5, 2014, Pages 1219-1226

  Shi, Lin Mei ^a   Tao, Ju Wei ^a   Qiu, Xing Biao ^b   Wang, Juan ^a   Yuan, Fang ^b   Xu, Lei ^b   Liu, Hua ^b   Li, Ruo Gu ^b   Xu, Ying Jia ^b   Wang, Qian ^b   Zheng, Hong Zhen ^b   Li, Xin ^b   Wang, Xiao Zhou ^b   Zhang, Min ^b   Qu, Xin Kai ^b   Yang, Y I Qing ^b  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Bicuspid aortic valve; Congenital heart disease; GATA5; Genetics; Reporter gene; Transcription factor

Indexed keywords

AMINO ACID; LUCIFERASE; TRANSCRIPTION FACTOR GATA 5;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BICUSPID AORTIC VALVE; CHROMOSOME; COHORT ANALYSIS; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HEART DEVELOPMENT; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SPLICING DEFECT; WILD TYPE; AORTA VALVE; CONGENITAL HEART MALFORMATION; GENETIC PREDISPOSITION; GENETICS; MUTATION; PEDIGREE; VALVULAR HEART DISEASE; YOUNG ADULT;

ADULT; AORTIC VALVE; FEMALE; GATA5 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HEART VALVE DISEASES; HUMANS; MALE; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84899522676     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2014.1700     Document Type: Article

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