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Notch signaling regulates <i>Akap12</i> expression and primary cilia length during renal tubule morphogenesis

2019-09-09

Abstract excerpt

Alagille syndrome patients present with loss of function mutations in either JAG1 or NOTCH2 . About 40-50% of patients have kidney abnormalities, with multi-cystic, dysplastic kidneys being one of the more frequent kidney defects. Additionally, gain-of-function mutations in NOTCH2 are associated with cystic kidneys in Hajdu-Cheney syndrome patients. Conditional inactivation of Notch1, Notch2 , or RBPJ within...

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Literature Corpus work
5c3bd0c8-220a-5da7-960d-36d75d684e18
DOI
10.1101/760181
Open publication

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