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A RUNX2/PEBP2αA/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia

Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2αA (PEBP2αA)/core-binding factor A1 (CBFA1). To understand the mechanism underlying the pathogenesis of CCD...

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Published in:Proc Natl Acad Sci U S A
Main Authors: Zhang, Yu-Wen, Yasui, Natsuo, Ito, Kosei, Huang, Gang, Fujii, Makiko, Hanai, Jun-ichi, Nogami, Hiroshi, Ochi, Takahiro, Miyazono, Kohei, Ito, Yoshiaki
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2000
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC27062/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10962029/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.180309597
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