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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Veröffentlicht in:	American journal of human genetics 2012-04, Vol.90 (4), p.661-674
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Biological and medical sciences Bone and Bones - metabolism Bone Density Conservation Agents - therapeutic use Bone Morphogenetic Protein 1 - genetics Bone Morphogenetic Protein 1 - metabolism Bone Morphogenetic Protein 1 - physiology Bone Morphogenetic Protein 1 - secretion Cell Differentiation Child, Preschool Collagen - biosynthesis Danio rerio Diphosphonates - therapeutic use Exome Female Fractures, Bone - drug therapy Fractures, Bone - prevention & control Freshwater Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Loci Genetics Genetics of eukaryotes. Biological and molecular evolution Heat-Shock Proteins Human subjects Humans Male Medical genetics Medical sciences Molecular and cellular biology Molecular Sequence Data Mutation Osteoblasts - drug effects Osteoblasts - physiology Osteogenesis - drug effects Osteogenesis - genetics Osteogenesis - physiology Peptide Fragments Protein Processing, Post-Translational Proteins Signal transduction Zebrafish Zebrafish - genetics Zebrafish - metabolism
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