Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

TNF-Rezeptor 1A Isoform beta

Das TNFRSF1A-Gen kodiert einen TNF-Rezeptor und besitzt damit eine wichtige Rolle in der Entzündungsregulation. Mutationen sind für das autosomal dominante periodische Fieber verantwortlich. Weiterhin sind verschiedene genetische Variationen in diesem Gen mit entzündlichen Erkrankungen wie Mittelmeerfiber assoziiert.

Gentests:

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

Verknüpfte Erkrankungen:

Familiäres Mittelmeerfieber
MEFV
SAA1
TNFRSF1A
TNF-Rezeptor-assoziiertes periodisches Fieber-Syndrom
TNFRSF1A

Referenzen:

1.

Smith CA et al. (1990) A receptor for tumor necrosis factor defines an unusual family of cellular and viral proteins.

external link
2.

Baker E et al. (1991) Chromosomal location of the human tumor necrosis factor receptor genes.

external link
3.

Milatovich A et al. (1991) Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosomes 12 and 1.

external link
4.

Wheeler RD et al. (2006) Elevated interferon gamma expression in the central nervous system of tumour necrosis factor receptor 1-deficient mice with experimental autoimmune encephalomyelitis.

external link
5.

Nophar Y et al. (1990) Soluble forms of tumor necrosis factor receptors (TNF-Rs). The cDNA for the type I TNF-R, cloned using amino acid sequence data of its soluble form, encodes both the cell surface and a soluble form of the receptor.

external link
6.

Kümpfel T et al. (2008) Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

external link
7.

Yazdanpanah B et al. (2009) Riboflavin kinase couples TNF receptor 1 to NADPH oxidase.

external link
8.

Zhang L et al. (2010) Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.

external link
9.

Tang W et al. (2011) The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice.

external link
10.

Engelmann H et al. (1990) Two tumor necrosis factor-binding proteins purified from human urine. Evidence for immunological cross-reactivity with cell surface tumor necrosis factor receptors.

external link
11.

Brockhaus M et al. (1990) Identification of two types of tumor necrosis factor receptors on human cell lines by monoclonal antibodies.

external link
12.

Loetscher H et al. (1990) Molecular cloning and expression of the human 55 kd tumor necrosis factor receptor.

external link
13.

Schall TJ et al. (1990) Molecular cloning and expression of a receptor for human tumor necrosis factor.

external link
14.

Braumüller H et al. (2013) T-helper-1-cell cytokines drive cancer into senescence.

external link
15.

Gray PW et al. (1990) Cloning of human tumor necrosis factor (TNF) receptor cDNA and expression of recombinant soluble TNF-binding protein.

external link
16.

Gregory AP et al. (2012) TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis.

external link
17.

Li S et al. (2013) Pathogen blocks host death receptor signalling by arginine GlcNAcylation of death domains.

external link
18.

Pearson JS et al. (2013) A type III effector antagonizes death receptor signalling during bacterial gut infection.

external link
19.

Kumari S et al. (2013) Tumor necrosis factor receptor signaling in keratinocytes triggers interleukin-24-dependent psoriasis-like skin inflammation in mice.

external link
20.

Hohmann HP et al. (1989) Two different cell types have different major receptors for human tumor necrosis factor (TNF alpha).

external link
21.

Stauber GB et al. (1988) Human tumor necrosis factor-alpha receptor. Purification by immunoaffinity chromatography and initial characterization.

external link
22.

Rothe J et al. (1993) Mice lacking the tumour necrosis factor receptor 1 are resistant to TNF-mediated toxicity but highly susceptible to infection by Listeria monocytogenes.

external link
23.

Tartaglia LA et al. (1993) A novel domain within the 55 kd TNF receptor signals cell death.

external link
24.

Castellino AM et al. (1997) A novel interaction between the juxtamembrane region of the p55 tumor necrosis factor receptor and phosphatidylinositol-4-phosphate 5-kinase.

external link
25.

Schievella AR et al. (1997) MADD, a novel death domain protein that interacts with the type 1 tumor necrosis factor receptor and activates mitogen-activated protein kinase.

external link
26.

Tchernitchko D et al. (2005) Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.

external link
27.

Stein CM et al. (2007) Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes.

external link
28.

Aggarwal BB et al. () Characterization of receptors for human tumour necrosis factor and their regulation by gamma-interferon.

external link
29.

Flynn JL et al. (1995) Tumor necrosis factor-alpha is required in the protective immune response against Mycobacterium tuberculosis in mice.

external link
30.

Bruce AJ et al. (1996) Altered neuronal and microglial responses to excitotoxic and ischemic brain injury in mice lacking TNF receptors.

external link
31.

Vielhauer V et al. (2005) Renal cell-expressed TNF receptor 2, not receptor 1, is essential for the development of glomerulonephritis.

external link
32.

Kim JY et al. (2005) Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily.

external link
33.

McDermott MF et al. (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

external link
34.

Aganna E et al. (2001) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

external link
35.

Wildemann B et al. (2007) The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.

external link
36.

Williamson LM et al. (1982) Familial Hibernian fever.

external link
37.

Mulley J et al. (1998) Gene localization for an autosomal dominant familial periodic fever to 12p13.

external link
38.

McDermott MF et al. (1998) Linkage of familial Hibernian fever to chromosome 12p13.

external link
39.

Chan FK et al. (2000) A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling.

external link
40.

Dodé C et al. (2000) A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.

external link
41.

Qian Y et al. (2000) Topical soluble tumor necrosis factor receptor type I suppresses ocular chemokine gene expression and rejection of allogeneic corneal transplants.

external link
42.

Aksentijevich I et al. (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

external link
43.

Micheau O et al. (2003) Induction of TNF receptor I-mediated apoptosis via two sequential signaling complexes.

external link
44.

Aganna E et al. (2003) Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

external link
45.

Fuchs P et al. (1992) Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13 [corrected].

external link
46.

Karenko L et al. (1992) Autosomal dominant 'Mediterranean fever' in a Finnish family.

external link
47.

Poirier O et al. (2004) Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness--the ECTIM, AXA, EVA and GENIC Studies.

external link
48.

Zhang JY et al. (2004) NF-kappaB RelA opposes epidermal proliferation driven by TNFR1 and JNK.

external link
49.

Derré J et al. (1991) The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13.

external link
50.

OMIM.ORG article

Omim 191190 external link
51.

Orphanet article

Orphanet ID 120173 external link
52.

NCBI article

NCBI 7132 external link
53.

Wikipedia Artikel

Wikipedia DE (TNF-Rezeptor_Typ1) external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum