2024年12月25日 · NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction …

2016年1月23日 · The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart …

Nkx2.5 is acknowledged as an early and specific indicator of cardiogenic profiles, and investigating the pathways that regulate Nkx2.5 expression will provide new insights into the …

2004年4月30日 · Human mutations in Nkx2-5, a cardiac homeobox gene, predominantly function in a dominant-negative fashion and cause a diverse set of congenital heart malformations that …

NKX2-5 belongs to the NK2 family of homeobox genes and is a homolog of the tinman gene found in Drosophila melanogaster. It functions as a key regulator in cardiac morphogenesis, …

2019年7月25日 · Nkx2-5 is a key transcription factor essential for the formation of the working myocardium, but it was generally thought to be detrimental to SAN development. However, …

2018年4月10日 · Here, we show deletion of NKX2-5, a critical component of the cardiac gene regulatory network, in human embryonic stem cells (hESCs), results in impaired …

NKX2-5 is genetically associated with scleroderma, pulmonary hypertension, and fibrosis. Functional evidence revealed a regulatory mechanism that results in NKX2-5 transcriptional …

2025年2月8日 · NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Reamon-Buettner SM, et al. Hum Mutat, 2010 Nov. …

2024年9月18日 · Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in …