NOTCH2 Hajdu-Cheney Mutations Escape SCF(FBW7)-Dependent Proteolysis to Promote Osteoporosis

Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acroosteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. Recent studies identified that aberrant NOTCH2...

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Detalhes bibliográficos
Publicado no:Mol Cell
Main Authors: Fukushima, Hidefumi, Shimizu, Kouhei, Watahiki, Asami, Hoshikawa, Seira, Kosho, Tomoki, Oba, Daiju, Sakano, Seiji, Arakaki, Makiko, Yamada, Aya, Nagashima, Katsuyuki, Okabe, Koji, Fukumoto, Satoshi, Jimi, Eijiro, Bigas, Anna, Nakayama, Keiichi I, Nakayama, Keiko, Aoki, Yoko, Wei, Wenyi, Inuzuka, Hiroyuki
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5730348/
https://ncbi.nlm.nih.gov/pubmed/29149593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molcel.2017.10.018
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