Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGFβ superfamily members. Combining whole-exome sequencing and filtering for homozygous stretches of identified...

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Main Authors: Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322236/
https://ncbi.nlm.nih.gov/pubmed/22482805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.026
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