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Article

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 : the official journal of the American Society for Bone and Mineral Research - 1 May 2007

Balemans Wendy, Devogelaer Jean-Pierre, Cleiren Erna, Piters Elke, Caussin Emanuelle, Van Hul Wim

Abstract excerpt

UNLABELLED: We found a novel heterozygous missense mutation (M282V) in the LRP5 gene in a patient with a high bone mass phenotype. In vitro studies suggest that a reduced antagonistic effect of DKK1 on canonical Wnt signaling contributes to the molecular effect of this mutation and its pathogenic consequence. INTRODUCTION: Gain-of-function mutations in the gene encoding LDL receptor-related protein 5 (LRP5) cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17295608
DOI: 10.1359/jbmr.070211

Genes

LRP5
DKK1
TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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