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TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
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.
  • Rittore C; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Méchin D; Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.
  • Sanchez E; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Marinèche L; Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.
  • Ea V; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Soler S; Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.
  • Vereecke M; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Mallavialle A; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Richard E; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Duroux-Richard I; Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.
  • Apparailly F; INSERM U1183, CHU Saint Eloi, IRMB, Univ Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
  • Touitou I; Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.
  • Grandemange S; IRCM, INSERM, Univ Montpellier, Montpellier, France.
Sci Rep ; 11(1): 4172, 2021 02 18.
Article en En | MEDLINE | ID: mdl-33603056
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transducción de Señal / Factor de Necrosis Tumoral alfa / Receptores Tipo I de Factores de Necrosis Tumoral / Enfermedades Autoinflamatorias Hereditarias / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transducción de Señal / Factor de Necrosis Tumoral alfa / Receptores Tipo I de Factores de Necrosis Tumoral / Enfermedades Autoinflamatorias Hereditarias / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article