Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial expansile osteolysis
TNFRSF11A
Autosomal recessive osteopetrosis 7
TNFRSF11A
Juvenile Paget disease
TNFRSF11A

References:

1.

Hughes AE et. al. (1994) Genetic linkage of familial expansile osteolysis to chromosome 18q.

external link
2.

Whyte MP et. al. (2014) Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

external link
3.

Tan W et al. (2011) Tumour-infiltrating regulatory T cells stimulate mammary cancer metastasis through RANKL-RANK signalling.

external link
4.

Gonzalez-Suarez E et al. (2010) RANK ligand mediates progestin-induced mammary epithelial proliferation and carcinogenesis.

external link
5.

Schramek D et al. (2010) Osteoclast differentiation factor RANKL controls development of progestin-driven mammary cancer.

external link
6.

Hanada R et. al. (2009) Central control of fever and female body temperature by RANKL/RANK.

external link
7.

Guerrini MM et. al. (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

external link
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.

external link
9.

Jones DH et al. (2006) Regulation of cancer cell migration and bone metastasis by RANKL.

external link
10.

Kapur RP et al. (2004) Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank.

external link
11.

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.

external link
12.

Palenzuela L et. al. (2002) Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.

external link
13.

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.

external link
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.

external link
15.

Marco-Mingot M et al. (2001) Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.

external link
16.

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.

external link
17.

Wuyts W et al. (2001) Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

external link
18.

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.

external link
19.

Hocking L et al. (2000) Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q.

external link
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.

external link
21.

Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

external link
22.

Dougall WC et al. (1999) RANK is essential for osteoclast and lymph node development.

external link
23.

Nakagawa N et al. (1998) RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis.

external link
24.

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.

external link
25.

Anderson DM et al. (1997) A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.

external link
26.

Blair HC et. al. (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

external link
27.
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues