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Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis.
Alagille syndrome patients present with loss of function mutations in either JAG1 or NOTCH2. About 40-50% of patients have kidney abnormalities, and frequently display multi-cystic, dysplastic kidneys. Additionally, gain-of-function mutations in NOTCH2 are associated with cystic kidneys in Hajdu-Che...
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| Publicado no: | FASEB J |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7501208/ https://ncbi.nlm.nih.gov/pubmed/32474964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201902358RR |
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