Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children

EG Behiry, MA Al‐Azzouny, D Sabry… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Several genes encoding transcription factors are known to be the primary
cause of congenital heart disease. NKX2‐5 and GATA4 were the first congenital heart …

Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects

X Qin, Q Xing, L Ma, H Meng, Y Liu, S Pang, B Yan - Gene, 2012 - Elsevier
Congenital heart disease (CHD) is one of the most common birth defects in humans.
Mutations in cardiac transcription factor genes, such as GATA4, NKX2-5 and TBX5 genes …

Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects

S Pang, J Shan, Y Qiao, L Ma, X Qin, H Wanyan… - Pediatric …, 2012 - Springer
The ventricular septal defect (VSD) is the most common type of congenital heart disease
(CHD). The morbidity and mortality of CHD patients are significantly higher due to late …

Combined mutation screening of NKX2‐5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations

JT Granados‐Riveron, M Pope… - Congenital heart …, 2012 - Wiley Online Library
Background. Variants of several genes encoding transcription modulators, signal
transduction, and structural proteins are known to cause Mendelian congenital heart …

Congenital heart diseases and their association with the variant distribution features on susceptibility genes

W Su, P Zhu, R Wang, Q Wu, M Wang… - Clinical …, 2017 - Wiley Online Library
Congenital heart disease (CHD), one of the causes of childhood morbidity and mortality, is
mainly triggered by a combination of environmental and genetic factors. Several susceptible …

Novel missense mutation in NKX2. 6 gene (c. 389 G> C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease

M Khatami, D Ghazinader, F Ahmadi, MM Heidari… - Gene Reports, 2023 - Elsevier
Congenital heart diseases (CHD) are the most common anomalies that occur during heart
embryogenesis and are associated with significant mortality and morbidity in infants. It has …

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease

A Yoshida, H Morisaki, M Nakaji, M Kitano… - Journal of human …, 2016 - nature.com
Congenital heart disease (CHD) is the most common birth defect occurring in humans and
some transcriptional factors have been identified as causative. However, additional mutation …

Single-Nucleotide Polymorphisms of NKX2.5 Found in Congenital Heart Disease Patients of Mysore, South India

SM Dinesh, L Kusuma, R Smitha… - Genetic testing and …, 2010 - liebertpub.com
Congenital heart disease (CHD) is a common congenital birth defect, affecting nearly 1% of
all live births, and is the most common cause of infant death. NKX2. 5 is an important …

Investigation of NKX2.5 Gene Mutations in Congenital Heart Defects in an Indian Population

S Ketharnathan, T Koshy, R Sethuratnam… - Genetic testing and …, 2015 - liebertpub.com
Background and Aim: Mutations in the NKX2. 5 gene, a cardiac transcription factor, have
been implicated in various types of congenital heart defects (CHD) and it is known that …

Search of somatic mutations of NKX2-5 and GATA4 genes in Chinese patients with sporadic congenital heart disease

J Yin, J Qian, G Dai, C Wang, Y Qin, T Xu, Z Li… - Pediatric …, 2019 - Springer
Congenital heart disease (CHD) usually occurs sporadically, with only a minority of cases
associated with a known genetic mechanism. Cardiac-specific transcription factors NKX2-5 …