|
ZEB2
Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ''ZEB2'' gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development. Function ZEB2 (previously also known as SMADIP1, SIP1) and its mammalian paralog ZEB1 belongs to the Zeb family within the ZF (zinc finger) class of homeodomain transcription factors. ZEB2 protein has 8 zinc fingers and 1 homeodomain. The structure of the homeodomain shown on the right. ZEB2 interacts with receptor-mediated, activated full-length SMADs. The activation of TGFβ receptors brings about the phosphorylation of intracellular effector molecules, R-SMADs. ZEB2 is an R-SMAD-binding protein and acts as a transcriptional corepressor. It is involved in the timing of the conversion of neuroepithelial cells into radial glial cells in early development, a mechanism thought to allow for the large difference ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mowat–Wilson Syndrome
Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000-100,000 births. Presentation This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion.Todo A, Harrington JWNew-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease Consultant for Pediatricians. 2010;9:103-107. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |