期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 23, 期 4, 页码 450-457出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2012.01.010
关键词
Alagille syndrome; Spondylocostal dysostosis; Hajdu Cheney; Cardiac disease; Notch signaling
资金
- NIDDK [DK53104, NHLBI P50 HL62177, UO1DK062481, 1R01DK081702]
- Fred and Susanne Biesecker Center for Pediatric Liver Disease at the Children's Hospital of Philadelphia
Mutations in Notch signaling pathway members cause developmental phenotypes that affect the liver, skeleton, heart, eye, face, kidney, and vasculature. Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway. Mutations in NOTCH2 have also recently been connected to Hajdu-Cheney syndrome, a dominant disorder causing focal bone destruction, osteoporosis, craniofacial morphology and renal cysts. Mutations in the NOTCH1 receptor are associated with several types of cardiac disease and mutations in NOTCH3 cause the dominant adult onset disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a vascular disorder with onset in the 4th or 5th decades. Studies of these human disorders and their inheritance patterns and types of mutations reveal insights into the mechanisms of Notch signaling. (C) 2012 Elsevier Ltd. All rights reserved.
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