Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

TNF-Rezeptor-Familie Mitglied 11A

Das TNFRSF11A-Gen kodiert einen TNF-Rezeptor und ist damit an der Regulation von Immunprozessen beteiligt. Mutationen in diesem Gen führen zu autosomal rezessivem juvenilem Paget-Syndrom, Osteopetrose 7 oder dominanter expansiler familiäre Osteolyse.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Expansile familiäre Osteolyse
TNFRSF11A
Autosomal rezessive Osteopetrose 7
TNFRSF11A
Juveniles Paget-Syndrom
TNFRSF11A

Referenzen:

1.

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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2.

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

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3.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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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9.

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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10.

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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11.

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

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12.

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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13.

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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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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15.

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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16.

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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17.

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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18.

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

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19.

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

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20.

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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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.
Update: 8. Mai 2019