Association of ventricular septal defect with rare variations of the HAND2 gene

MK Li, SC Pang, B Yan - Zhongguo Dang dai er ke za zhi= Chinese …, 2023 - europepmc.org
Objectives To study the association of ventricular septal defect (VSD) with rare variations in
the promoter region of HAND2 gene, as well as related molecular mechanisms. Methods …

Molecular and cellular role of variants of the promoter region of HAND1 gene in sporadic and isolated ventricular septal defect

JL Qi, HX Chen, HT Hou, Z Chen, LX Liu… - Molecular and Cellular …, 2024 - Springer
Ventricular septal defect (VSD) is the most common type of congenital heart disease.
HAND1 gene plays a crucial role in the development of the heart, but the role of the variants …

Molecular genetic study on HAND2 gene promoter in ventricular septal defect

M Li, Y Cai, S Pang, B Yan - International Heart Journal, 2023 - jstage.jst.go.jp
Ventricular septal defect (VSD), the most common type of congenital heart disease (CHD), is
primarily caused by cardiac dysplasia. Heart and neural crest derivatives expressed 2 …

Identification and functional analysis of a novel HAND1 mutation associated with congenital ventricular septal defect

C Wang, B Zhou, X Kong - Zhong nan da xue xue bao. Yi xue ban …, 2017 - europepmc.org
Objective To identify the novel HAND1 mutation associated with congenital ventricular
septal defect (VSD) and to perform the functional analysis. Methods: A total of 125 patients …

Two novel HAND1 mutations in Chinese patients with ventricular septal defect

Z Cheng, L Lib, Z Li, M Liu, J Yan, B Wang, X Ma - Clinica Chimica Acta, 2012 - Elsevier
BACKGROUND: The HAND1 gene encodes a basic helix–loop–helix (bHLH) transcription
factor which plays an essential role in the development of heart. Mutations in HAND1 have …

Transcription factorHAND2mutations in sporadic Chinese patients with congenital heart disease

S Lei, X Li, A Shen, W Qiang, C Liu, Y Guo… - Chinese medical …, 2010 - journals.lww.com
Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in
cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart …

HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle

L Li, J Wang, XY Liu, H Liu, HY Shi… - International …, 2017 - spandidos-publications.com
Congenital heart defects (CHDs), a wide variety of developmental abnormalities in the
structures of the heart and the great thoracic blood vessels, are the most common form of …

A HAND2 loss-of-function mutation causes familial ventricular septal defect and pulmonary stenosis

YM Sun, J Wang, XB Qiu, F Yuan, RG Li… - G3: Genes …, 2016 - academic.oup.com
Congenital heart disease (CHD) is the most common developmental abnormality, and is the
leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that …

Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart …

F Tabrizi, M Khatami, MM Heidari, J Bragança… - Molecular Biology …, 2024 - Springer
Background Congenital heart disease (CHD) is the most prevalent developmental defect
and principal cause of infant mortality and affects cardiac and large blood vessel structures …

Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects

ASA Cohen, C Simotas, BD Webb, H Shi… - American Journal of …, 2020 - Wiley Online Library
Congenital heart defects (CHDs) are caused by a disruption in heart morphogenesis, which
is dependent, in part, on a network of transcription factors (TFs) that regulate myocardial …