CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development (original) (raw)

“…In addition to the pharmacologic manipulation of RA levels, genetic alterations in RA signaling are important causes of congenital craniofacial and ocular defects (Adams & Lammer, 1995;de la Cruz et al, 1984;Lammer et al, 1985;Maden, 2001;Rosa et al, 1986). Mutations in genes that are important for regulating RA synthesis (ALDH1A3, OMIM:600463; CHD7, OMIM:608892), degradation (CYP26B1, OMIM:605207), transport (STRA6; OMIM:610745), and signaling (RARβ; OMIM:180220) have all been identified in congenital diseases (Aldahmesh et al, 2013;Casey et al, 2011;Chassaing et al, 2013;Fares-Taie et al, 2013;Golzio et al, 2007;Laue et al, 2011;Micucci et al, 2014;Pagon, Graham Jr., Zonana, & Young, 1981;Pasutto et al, 2007;Roos et al, 2014;Srour et al, 2013;Yahyavi et al, 2013;Yao et al, 2018) Further, known downstream targets of RA within neural crest cells, including RAI1 (OMIM:607642),…”

Section: Congenital Craniofacial and Ocular Diseases Resulting Frommentioning