Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and Zebrafish

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 661-674

  Asharani, P V ^a   Keupp, Katharina ^b,c   Semler, Oliver ^b   Wang, Wenshen ^a   Li, Yun ^b,c   Thiele, Holger ^d   Yigit, Gökhan ^b,c   Pohl, Esther ^b,c   Becker, Jutta ^c   Frommolt, Peter ^b,d   Sonntag, Carmen ^b,g   Altmüller, Janine ^d   Zimmermann, Katharina ^c   Greenspan, Daniel S ^e   Akarsu, Nurten A ^f   Netzer, Christian ^c   Schönau, Eckhard ^b   Wirth, Radu ^c   Hammerschmidt, Matthias ^b   Nürnberg, Peter ^b,d   Wollnik, Bernd ^b,c   Carney, Thomas J ^a   more..

^a INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^f HACETTEPE UNIVERSITY   (Turkey)

^g MONASH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; PROCOLLAGEN C PROTEINASE; PROTEIN BMP1A; SCLEROPROTEIN; SIGNAL PEPTIDE; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BMP1 GENE; BMP1A GENE; BONE DENSITY; BONE DEVELOPMENT; BONE FRAGILITY; BONE MATURATION; CONSANGUINITY; CONTROLLED STUDY; EMBRYO; EXOME; FRACTURE; GENE; GENE LOCATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HISTOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; OSSIFICATION; OSTEOBLAST; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROCESSING; RECURRENT DISEASE; ZEBRA FISH;

ANIMALS; BASE SEQUENCE; BONE AND BONES; BONE DENSITY CONSERVATION AGENTS; BONE MORPHOGENETIC PROTEIN 1; CELL DIFFERENTIATION; CHILD, PRESCHOOL; COLLAGEN; DIPHOSPHONATES; EXOME; FEMALE; FRACTURES, BONE; GENETIC LOCI; HEAT-SHOCK PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOBLASTS; OSTEOGENESIS; PEPTIDE FRAGMENTS; PROTEIN PROCESSING, POST-TRANSLATIONAL; ZEBRAFISH;

DANIO RERIO;

EID: 84859506560     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.02.026     Document Type: Article

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