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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Among authors: richard e. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 Free PMC article.
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S. Rittore C, et al. Among authors: richard e. Sci Rep. 2021 Feb 18;11(1):4172. doi: 10.1038/s41598-021-83539-9. Sci Rep. 2021. PMID: 33603056 Free PMC article.
PSMB10, the last immunoproteasome gene missing for PRAAS.
Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I. Sarrabay G, et al. Among authors: richard e. J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26. J Allergy Clin Immunol. 2020. PMID: 31783057 No abstract available.
Control of conformational equilibria in the human B2 bradykinin receptor. Modeling of nonpeptidic ligand action and comparison to the rhodopsin structure.
Marie J, Richard E, Pruneau D, Paquet JL, Siatka C, Larguier R, Poncé C, Vassault P, Groblewski T, Maigret B, Bonnafous JC. Marie J, et al. Among authors: richard e. J Biol Chem. 2001 Nov 2;276(44):41100-11. doi: 10.1074/jbc.M104875200. Epub 2001 Aug 8. J Biol Chem. 2001. PMID: 11495910 Free article.
667 results