Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling

Journal of Bone and Mineral Research

Volumn 22, Issue 5, 2007, Pages 708-716

  Balemans, Wendy ^a,d   Devogelaer, Jean Pierre ^b   Cleiren, Erna ^a,c   Piters, Elke ^a   Caussin, Emanuelle ^b   Van Hul, Wim ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c Virco BVBA   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Canonical Wnt signaling; Dickkopf 1; Gain of function mutation; High BMD; Low density lipoprotein receptor related protein 5

Indexed keywords

ADENINE; GENOMIC DNA; GUANINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; METHIONINE; PROTEIN DICKKOPF 1; REGULATOR PROTEIN; UNCLASSIFIED DRUG; VALINE; WNT PROTEIN; DKK1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; SIGNAL PEPTIDE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BONE DENSITY; BONE MASS; CASE REPORT; CELL LINE; CLINICAL FEATURE; EXON; FEMALE; GENE; GENE SEQUENCE; HETEROZYGOTE; HIP; HUMAN; HYPEROSTOSIS; IMMUNOBLOTTING; LRP5 GENE; LUMBAR SPINE; MENOPAUSE; MISSENSE MUTATION; PALATE MALFORMATION; PALATINE TORUS; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN FUNCTION; PROTEIN SECRETION; REPORTER GENE; SCORING SYSTEM; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SYMPTOM; AMINO ACID SUBSTITUTION; BONE DISEASE; CELL MEMBRANE; GENETICS; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PROTEIN TERTIARY STRUCTURE; PROTEIN TRANSPORT; RADIOGRAPHY;

AMINO ACID SUBSTITUTION; BONE DENSITY; BONE DISEASES; CELL LINE; CELL MEMBRANE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LDL-RECEPTOR RELATED PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; WNT PROTEINS;

EID: 34447526757     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.070211     Document Type: Article

References (39)

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