Article
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
Human molecular genetics - 15 Jan 2014
Micucci Joseph A, Layman Wanda S, Hurd Elizabeth A, Sperry Ethan D, Frank Sophia F, Durham Mark A, Swiderski Donald L, Skidmore Jennifer M, Scacheri Peter C, Raphael Yehoash, Martin Donna M
Abstract excerpt
CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP-dependent chromatin remodeling enzyme. Identification of the mechanisms underlying neurological...
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