Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation

Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). We report here a previously undescribed mechanism involved in the altered osteoblastogenesis in SCS. Cranial osteoblasts from an SCS patient with a...

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Bibliografiske detaljer
Main Authors: Guenou, Hind, Kaabeche, Karim, Dufour, Cécilie, Miraoui, Hichem, Marie, Pierre J.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Investigative Pathology 2006
Fag:
Regular Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698848/
https://ncbi.nlm.nih.gov/pubmed/17003487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2006.060102
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