[HTML][HTML] Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling
MB Furtado, JC Wilmanns, A Chandran, J Perera… - JCI insight, 2017 - ncbi.nlm.nih.gov
Mutations in the Nkx2-5 gene are a main cause of congenital heart disease. Several studies
have addressed the phenotypic consequences of disrupting the Nkx2-5 gene locus …
have addressed the phenotypic consequences of disrupting the Nkx2-5 gene locus …
Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy
MW Costa, G Guo, O Wolstein, M Vale… - Circulation …, 2013 - Am Heart Assoc
Background—The transcription factor NKX2-5 is crucial for heart development, and
mutations in this gene have been implicated in diverse congenital heart diseases and …
mutations in this gene have been implicated in diverse congenital heart diseases and …
[HTML][HTML] The expression profile analysis of NKX2-5 knock-out embryonic mice to explore the pathogenesis of congenital heart disease
Background Mutation of NKX2-5 could lead to the development of congenital heart disease
(CHD) which is a common inherited disease. This study aimed to investigate the …
(CHD) which is a common inherited disease. This study aimed to investigate the …
A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels
MB Furtado, JC Wilmanns, A Chandran, M Tonta… - Differentiation, 2016 - Elsevier
Nkx2-5 is one of the master regulators of cardiac development, homeostasis and disease.
This transcription factor has been previously associated with a suite of cardiac congenital …
This transcription factor has been previously associated with a suite of cardiac congenital …
[HTML][HTML] Nkx2-5 pathways and congenital heart disease: loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart …
M Pashmforoush, JT Lu, H Chen, T St Amand, R Kondo… - Cell, 2004 - cell.com
Human mutations in Nkx2-5 lead to progressive cardiomyopathy and conduction defects via
unknown mechanisms. To define these pathways, we generated mice with a ventricular …
unknown mechanisms. To define these pathways, we generated mice with a ventricular …
[HTML][HTML] Genetics of congenital heart defects: the NKX2-5 gene, a key player
IM Chung, G Rajakumar - Genes, 2016 - mdpi.com
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital
anomalies worldwide. Owing to their complex inheritance patterns and multifactorial …
anomalies worldwide. Owing to their complex inheritance patterns and multifactorial …
Prevalence and spectrum of Nkx2. 6 mutations in patients with congenital heart disease
L Zhao, SH Ni, XY Liu, D Wei, F Yuan, L Xu… - European journal of …, 2014 - Elsevier
Congenital heart disease (CHD) is the most common form of birth defect and is the most
prevalent non-infectious cause of infant death. A growing body of evidence documents that …
prevalent non-infectious cause of infant death. A growing body of evidence documents that …
[HTML][HTML] Novel enhancers conferring compensatory transcriptional regulation of Nkx2-5 in heart development
J Zhang, CC Li, X Li, Y Liu, Q Wang, G Zhang, H Xiong… - Iscience, 2023 - cell.com
Cell type-specific expression of the developmental gene is conferred by distinct enhancer
elements. Current knowledge about mechanisms in Nkx2-5 transcriptional regulation and its …
elements. Current knowledge about mechanisms in Nkx2-5 transcriptional regulation and its …
In vitro modeling of congenital heart defects associated with an NKX2-5 mutation revealed a dysregulation in BMP/notch-mediated signaling
AF Zakariyah, RF Rajgara, E Horner, ME Cattin… - Stem Cells, 2018 - academic.oup.com
The Nkx2-5 gene codes for a transcription factor that plays a critical role in heart
development. Heterozygous mutations in NKX2-5 in both human and mice result in …
development. Heterozygous mutations in NKX2-5 in both human and mice result in …
[引用][C] NKX2.5 and congenital heart defects: A population‐based study
CA Hobbs, MA Cleves, C Keith… - American Journal of …, 2005 - Wiley Online Library
Multiple animal studies have demonstrated the important role of NKX2. 5, a homeobox
transcription factor, in cardiogenesis [Komuro and Izumo, 1993; Lyons et al., 1995; Grow and …
transcription factor, in cardiogenesis [Komuro and Izumo, 1993; Lyons et al., 1995; Grow and …
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