In humans, proper NKX2-5 expression is essential for the development of atrial, ventricular, and conotruncal septation, atrioventricular (AV) valve formation, and maintenance of AV …

Mar 30, 2025 · NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Ventricular Septal Defect 3 and Hypothyroidism, Congenital, Nongoitrous, 5. …

Jan 23, 2016 · 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 …

Apr 30, 2004 · 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 …

Apr 10, 2018 · 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 …

Feb 8, 2025 · 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. …

Nkx2-5 is among the earliest known markers of cardiac mesoderm that is central to the regulatory pathways mediating second heart field (SHF) development. Here, we have examined the …

Feb 8, 2025 · In early embryonic myocardium, Nkx2-5 suppresses Hcn4 & Tbx3, progressively confining them to the forming Nkx2-5-negative sinoatrial node & sinus horns. Nkx2-5 is …