Article
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
American journal of human genetics - 6 Apr 2012
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
Abstract excerpt
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 variants, we found a homozygous causative BMP1 mutation, c.34G>C, in a consanguineous family affected by increased...
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