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Article

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Nature genetics - 1 Jan 2000

Hughes A E, Ralston S H, Marken J, Bell C, MacPherson H, Wallace R G, van Hul W, Whyte M P, Nakatsuka K, Hovy L, Anderson D M

Abstract excerpt

Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling. The osteolytic lesions, which develop usually in the long bones during early adulthood, show increased osteoblast and osteoclast activity. Our previous linkage studies mapped the gene responsible for FEO to an interval of less than 5 cM between D18S64 and D18S51...

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Identifiers

PMID: 10615125
DOI: 10.1038/71667

Provenance

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.PMID 10615125Read ↗

Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.Semantic proximity Read ↗

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.Semantic proximity Read ↗

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

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

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.Semantic proximity Read ↗

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.Semantic proximity Read ↗

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the <i>TNFRSF11A</i> geneSemantic 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 mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.Semantic proximity Read ↗

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.Semantic proximity Read ↗

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.Semantic proximity Read ↗

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

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