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Article

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

BMC medical genetics - 10 Apr 2012

Korvala Johanna, Jüppner Harald, Mäkitie Outi, Sochett Etienne, Schnabel Dirk, Mora Stefano, Bartels Cynthia F, Warman Matthew L, Deraska Donald, Cole William G, Hartikka Heini, Ala-Kokko Leena, Männikkö Minna

Abstract excerpt

BACKGROUND: Primary osteoporosis is a rare childhood-onset skeletal condition whose pathogenesis has been largely unknown. We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and the role of LRP5 is further investigated here. METHODS: LRP5 was analyzed in 18 otherwise healthy children and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Serotonin

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Source

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Identifiers

PMID: 22487062
DOI: 10.1186/1471-2350-13-26
PMCID: PMC3374890

Genes

LRP5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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