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Article

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.

Annals of the rheumatic diseases - 1 Sept 2015

Ramos Yolande F M, Bos Steffan D, van der Breggen Ruud, Kloppenburg Margreet, Ye Kai, Lameijer Eric-Wubbo E M W, Nelissen Rob G H H, Slagboom P Eline, Meulenbelt Ingrid

Abstract excerpt

OBJECTIVE: To identify pathogenic mutations that reveal underlying biological mechanisms driving osteoarthritis (OA). METHODS: Exome sequencing was applied to two distant family members with dominantly inherited early onset primary OA at multiple joint sites with chondrocalcinosis (familial gener...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24743232
DOI: 10.1136/annrheumdis-2013-205149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24743232-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.PMID 24743232Read ↗

Genetic Determinism of Primary Early-Onset Osteoarthritis.Semantic proximity Read ↗

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.Semantic proximity Read ↗

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.Semantic proximity Read ↗

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.Semantic proximity Read ↗

Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization.Semantic proximity Read ↗

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.Semantic proximity Read ↗

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B geneSemantic proximity Read ↗

Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.Semantic proximity Read ↗

Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.Semantic proximity Read ↗

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.Semantic proximity Read ↗

Functional polymorphisms within the TNFRSF11B (osteoprotegerin) gene increase the risk for low bone mineral density.Semantic proximity Read ↗

Dysosteosclerosis is also caused by TNFRSF11A mutation.Semantic proximity Read ↗

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