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 Defects and Ventricular Septal Defect 3. Among its related pathways are Gene expression (Transcription) and Cardiac conduction.

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 molecular mechanisms behind the formation of the vertebrate heart.

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 defects and emphasizes the need for NKX2-5 mutation screening.

Our findings reveal that Nkx2.5 in the mesoderm is essential while endodermal expression is dispensable for early heart formation in mammals. Keywords: Nkx2.5, pharyngeal endoderm, pharyngeal mesoderm, second heart field, heart development.

Mutations in the NKX2-5 gene are primarily responsible for the development of ASDs, tetralogy of fallot, and ventricular septal defects. Screening for NKX2-5 gene mutations can provide early identification of a variety of congenital heart defects, including those mentioned above.

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 cardiomyogenesis, failure to activate...

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 include septal defects, cardiomyopathy, outflow tract defects, hypoplastic left heart, and associated arrhythmias (Benson et al., 1999; Elliott et al., 2003; Goldmuntz et al ...

2022年5月27日 · Nkx2.5 is a key causative transcription factor associated with human congenital heart disease and one of the earliest markers of cardiac progenitors, thus it serves as a promising candidate.

NKX2.5 inhibits myocyte differentiation and myotube formation, and up-regulates Gata4 and Tbx5 expression; The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis. NKX2-5 mutations are a relatively infrequent cause of sporadic ASD (atrial septal defect) and HLHS ( hypoplastic left heart syndrome).

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 this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition.