Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.

doi:10.1186/s12881-017-0495-3

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Article

Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.

BMC medical genetics - 16 Nov 2017

Laurier Emilie, Amiable Nathalie, Gagnon Edith, Brown Jacques P, Michou Laëtitia

Abstract excerpt

BACKGROUND: Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget's disease of bone (PDB) a rare variant (rs62620995) in the TM7SF4 gene, encoding for DC-STAMP, which changes a highly conserved amino acid, possibly damaging according to in silico predictions. This study aimed at determining...

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Identifiers

PMID: 29145829
DOI: 10.1186/s12881-017-0495-3
PMCID: PMC5693359

Genes

LAMP1
NFATC1
SQSTM1

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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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