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.


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
TNF-Rezeptor-assoziiertes periodisches Fieber-Syndrom



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

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

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

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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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OMIM.ORG article

Omim 191190 external link

Orphanet article

Orphanet ID 120173 external link

NCBI article

NCBI 7132 external link

Wikipedia Artikel

Wikipedia DE (TNF-Rezeptor_Typ1) external link
Update: 14. August 2020
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