First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

Human Mutation

Volumn 31, Issue 7, 2010, Pages

  Piters, Elke ^a   Culha, Cavit ^b   Moester, Martiene ^c   Van Bezooijen, Rutger ^c   Adriaensen, Dirk ^a   Mueller, Thomas ^d   Weidauer, Stella ^d   Jennes, Karen ^a   De Freitas, Fenna ^a   Löwik, Clemens ^c   Timmermans, Jean Pierre ^a   Van Hul, Wim ^a   Papapoulos, Socrates ^c  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANKARA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Sclerosteosis; Sclerostin; SOST; Wnt signaling

Indexed keywords

CYSTEINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; MUTANT PROTEIN; SCLEROSTIN; WNT PROTEIN; BONE MORPHOGENETIC PROTEIN; GENETIC MARKER; HYBRID PROTEIN; PHOTOPROTEIN; RED FLUORESCENT PROTEIN; SOST PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; ENDOPLASMIC RETICULUM; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOSCLEROSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN MOTIF; SOST GENE; CELL LINE; CONFOCAL MICROSCOPY; FAMILY HEALTH; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HYPEROSTOSIS; MALE; METABOLISM; PATHOLOGY; TUMOR CELL LINE; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; BONE MORPHOGENETIC PROTEINS; CELL LINE; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPEROSTOSIS; LUMINESCENT PROTEINS; MALE; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 77954135190     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21274     Document Type: Article

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