Tumor necrosis factor receptor superfamily member 11A
The TNFRSF11A gene encodes a member of the TNF receptor family and is therefore involved in regulation of immunen processes. Mutations cause autosomal recessive juvenile Paget disease, osteopetrosis, and dominant familial expansile osteolysis.
Genetests:
Related Diseases:
References:
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Hughes AE et. al. (1994) Genetic linkage of familial expansile osteolysis to chromosome 18q.
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Whyte MP et. al. (2014) Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.
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3. |
Tan W et al. (2011) Tumour-infiltrating regulatory T cells stimulate mammary cancer metastasis through RANKL-RANK signalling.
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Gonzalez-Suarez E et al. (2010) RANK ligand mediates progestin-induced mammary epithelial proliferation and carcinogenesis.
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Schramek D et al. (2010) Osteoclast differentiation factor RANKL controls development of progestin-driven mammary cancer.
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6. |
Hanada R et. al. (2009) Central control of fever and female body temperature by RANKL/RANK.
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Guerrini MM et. al. (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
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8. |
Elahi E et. al. (2007) Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
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Jones DH et al. (2006) Regulation of cancer cell migration and bone metastasis by RANKL.
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Kapur RP et al. (2004) Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank.
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Johnson-Pais TL et. al. (2003) Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.
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12. |
Palenzuela L et. al. (2002) Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.
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Whyte MP et. al. (2002) Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.
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14. |
Hocking LJ et al. (2001) Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.
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Marco-Mingot M et al. (2001) Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.
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Sparks AB et al. (2001) 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.
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Wuyts W et al. (2001) Evaluation of the role of RANK and OPG genes in Paget's disease of bone.
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Good D et al. (2001) Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree.
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19. |
Hocking L et al. (2000) Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q.
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20. |
Li J et al. (2000) RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism.
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21. |
Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
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22. |
Dougall WC et al. (1999) RANK is essential for osteoclast and lymph node development.
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Nakagawa N et al. (1998) RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis.
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Nellissery MJ et al. (1998) Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone.
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Anderson DM et al. (1997) A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.
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26. |
Blair HC et. al. (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
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Update: Aug. 14, 2020