Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children
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 …
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 …
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 …
(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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
associated with a known genetic mechanism. Cardiac-specific transcription factors NKX2-5 …
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