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Article

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.

Scientific reports - 18 Feb 2021

Rittore Cécile, Méchin Déborah, Sanchez Elodie, Marinèche Léa, Ea Vuthy, Soler Stephan, Vereecke Marion, Mallavialle Aude, Richard Eric, Duroux-Richard Isabelle, Apparailly Florence, Touitou Isabelle, Grandemange Sylvie

Abstract excerpt

Binding of tumour necrosis factor α (TNFα) to its receptor (TNFR1) is critical for both survival and death cellular pathways. TNFα/TNFR1 signalling is complex and tightly regulated at different levels to control cell fate decisions. Previously, we identified TNFR1-d2, an exon 2-spliced transcript of TNFRSF1A gene encoding TNFR1, whose splicing may be modulated by polymorphisms associated with inflammatory...

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Identifiers

PMID: 33603056
DOI: 10.1038/s41598-021-83539-9
PMCID: PMC7893027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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