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

Tumor necrosis factor receptor superfamily, member 1A

The TNFRSF1A gene encodes an TNF receptor which is involved in immune regulation. Mutations cause autosomal dominant periodic fever. Also genetic variations are associated with several inflammatory diseases such as Mediterranean fever.

Genetests:

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

Related Diseases:

Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
TNF receptor-associated periodic syndrome
TNFRSF1A

References:

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.

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.

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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.

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.

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11.

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

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12.

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

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13.

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

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14.

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

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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.

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

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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.

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

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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.

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

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38.

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

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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.

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

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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 article

Wikipedia EN (Tumor_necrosis_factor_receptor_1) external link
Update: Aug. 14, 2020
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