New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): Mutation within the GDF5 knuckle epitope causes noggin-resistance

Journal of Bone and Mineral Research

Volumn 27, Issue 2, 2012, Pages 429-442

  Schwaerzer, Gerburg K ^a   Hiepen, Christian ^a   Schrewe, Heinrich ^b,g   Nickel, Joachim ^c   Ploeger, Frank ^d   Sebald, Walter ^e   Mueller, Thomas ^f   Knaus, Petra ^a  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^d Biopharm GmbH   (Germany)

^e UNIVERSITY OF WÜRZBURG   (Germany)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

BMPRII; GDF5; KNUCKLE EPITOPE; MULTIPLE SYNOSTOSES SYNDROME; NOGGIN

Indexed keywords

ALKALINE PHOSPHATASE; ASPARAGINE; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; BONE MORPHOGENETIC PROTEIN RECEPTOR 1B; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; EPITOPE; GROWTH DIFFERENTIATION FACTOR 5; INHIBITOR OF DIFFERENTIATION 1; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE P38; MYOGENIN; MYOSIN HEAVY CHAIN; NOGGIN; SERINE; SMAD1 PROTEIN; SMAD5 PROTEIN; SMAD8 PROTEIN; TRANSCRIPTION FACTOR RUNX2;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BETA SHEET; BINDING AFFINITY; BONE DEVELOPMENT; CARBOXY TERMINAL SEQUENCE; CELL NUCLEUS; CELLULAR DISTRIBUTION; CHONDROGENESIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; GAIN OF FUNCTION MUTATION; GENE MUTATION; LOSS OF FUNCTION MUTATION; MOLECULAR PATHOLOGY; MOUSE; MULTIPLE MALFORMATION SYNDROME; MULTIPLE SYNOSTOSIS SYNDROME; MUSCLE DEVELOPMENT; MYOBLAST; NONHUMAN; OSTEOBLAST; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION;

EID: 84856154561     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.532     Document Type: Article

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