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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2010

Chung Pui Yan Jenny, Beyens Greet, Riches Philip L, Van Wesenbeeck Liesbeth, de Freitas Fenna, Jennes Karen, Daroszewska Anna, Fransen Erik, Boonen Steven, Geusens Piet, Vanhoenacker Filip, Verbruggen Leon, Van Offel Jan, Goemaere Stefan, Zmierczak Hans-Georg, Westhovens René, Karperien Marcel, Papapoulos Socrates, Ralston Stuart H, Devogelaer Jean-Pierre, Van Hul Wim

Abstract excerpt

RANK (receptor activator of nuclear factor-κB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)-like diseases (ie, familial expansile osteolysis, expansile skeletal hyperphosphatasia, and early-onset PDB) and an osteoclast-poor...

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PMID: 20564239
DOI: 10.1002/jbmr.162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20564239-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.PMID 20564239Read ↗

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.Semantic proximity Read ↗

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms.Semantic proximity Read ↗

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

Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene.Semantic proximity Read ↗

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

The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.Semantic proximity Read ↗

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

Genetics of Paget's disease of bone.Semantic proximity Read ↗

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

Mechanisms of disease: genetics of Paget's disease of bone and related disorders.Semantic proximity Read ↗

Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma.Semantic proximity Read ↗

A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.Semantic proximity Read ↗

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