ISL1 loss-of-function mutation contributes to congenital heart defects

• Published in: Heart and vessels Vol. 34; no. 4; pp. 658 - 668
• Main Authors: Ma, Lan, Wang, Juan, Li, Li, Qiao, Qi, Di, Ruo-Min, Li, Xiu-Mei, Xu, Ying-Jia, Zhang, Min, Li, Ruo-Gu, Qiu, Xing-Biao, Li, Xun, Yang, Yi-Qing
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.04.2019; Springer Nature B.V
• Subjects: Adolescent; Adult; Biomedical Engineering and Bioengineering; Cardiac Surgery; Cardiology; Child; Child, Preschool; Chromosomes; Congenital diseases; Coronary vessels; Defects; DNA - genetics; DNA Mutational Analysis; Exons; Female; Functional analysis; Genetic counseling; Genetic screening; Heart Defects, Congenital - genetics; Heart Defects, Congenital - metabolism; Humans; Infant; Islet-1 protein; LIM-Homeodomain Proteins - genetics; LIM-Homeodomain Proteins - metabolism; Loss of Function Mutation; Male; Medicine; Medicine & Public Health; Morbidity; Mutation; Nonsense mutation; Original Article; Pathogenesis; Patients; Pedigree; Polymerase Chain Reaction; Transcription Factors - genetics; Transcription Factors - metabolism; Vascular Surgery; Ventricle; Young Adult; Reporter gene assay; Congenital heart defect; Patent ductus arteriosus; Molecular genetics; Transcription factor; ISL1

Congenital heart defect (CHD) is the most common form of birth deformity and is responsible for substantial morbidity and mortality in humans. Increasing evidence has convincingly demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, CHD is a genetically heteroge...