Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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
NOD2
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.

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2.

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

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3.

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

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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.

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5.

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6.

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

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7.

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

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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.

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9.

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

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10.

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11.

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12.

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13.

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14.

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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21.

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

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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.

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23.

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

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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.

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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.

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26.

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

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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.

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28.

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29.

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

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30.

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

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31.

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

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32.

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

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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.

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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.

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35.

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

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36.

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

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37.

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38.

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39.

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

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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.

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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.

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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.

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43.

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

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44.

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45.

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

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46.

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

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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.

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48.

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

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49.

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

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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
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