Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

Journal of Bone and Mineral Research

Volumn 30, Issue 8, 2015, Pages 1445-1456

  Syx, Delfien ^a   Guillemyn, Brecht ^a   Symoens, Sofie ^a   Sousa, Ana Berta ^b   Medeira, Ana ^b   Whiteford, Margo ^c   Hermanns Lê, Trinh ^d   Coucke, Paul J ^a   De Paepe, Anne ^a   Malfait, Fransiska ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

BMP1; BONE MORPHOGENETIC PROTEIN 1; MAMMALIAN TOLLOID; OSTEOGENESIS IMPERFECTA; PRODECORIN

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 5; FIBRILLAR COLLAGEN; MESSENGER RNA; PROCOLLAGEN C PROTEINASE; PRODECORIN; PROTEOGLYCAN; TOLLOID METALLOPROTEINASE; UNCLASSIFIED DRUG; BMP1 PROTEIN, HUMAN; DCN PROTEIN, HUMAN; DECORIN; PROCOLLAGEN;

ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; EXTRACELLULAR MATRIX; FRACTURE; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMAN; HUMAN TISSUE; KYPHOSCOLIOSIS; LIMB DEFORMITY; MALE; MIDDLE AGED; MISSENSE MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PROTEIN PROCESSING; SHORT STATURE; TRANSMISSION ELECTRON MICROSCOPY; ALLELE; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PROTEIN DEGRADATION;

ADULT; ALLELES; BONE MORPHOGENETIC PROTEIN 1; COLLAGEN TYPE I; COLLAGEN TYPE V; DECORIN; EXTRACELLULAR MATRIX; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PROCOLLAGEN; PROTEOLYSIS;

EID: 84937161587     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2473     Document Type: Article

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