Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A
TNF-Rezeptor-assoziiertes periodisches Fieber-Syndrom
TNFRSF1A

Referenzen:

1.

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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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

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8.

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9.

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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.

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20.

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22.

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23.

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24.

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25.

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26.

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27.

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28.

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29.

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30.

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31.

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32.

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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33.

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

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34.

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

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

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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43.

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44.

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

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45.

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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46.

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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47.

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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48.

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49.

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