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Article

Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology.

Bone - 1 Aug 2017

Mäkitie Riikka E, Niinimäki Tuukka, Nieminen Miika T, Schalin-Jäntti Camilla, Niinimäki Jaakko, Mäkitie Outi

Abstract excerpt

BACKGROUND: WNT signaling plays a major role in bone and cartilage metabolism. Impaired WNT/β-catenin signaling leads to early-onset osteoporosis, but specific features in bone and other tissues remain inadequately characterized. We have identified two large Finnish families with early-onset osteoporosis due to a heterozygous WNT1 mutation c.652T>G, p.C218G. This study evaluated the impact of impaired...

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Source

Identifiers

PMID: 28411110
DOI: 10.1016/j.bone.2017.04.001

Genes

WNT1

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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