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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Among authors: saintpierre b. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.
MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.
Brousseau M, Nectoux J, Saintpierre B, Lebrun N, Cagnard N, Izac B, Olivier E, Letourneur F, Bienvenu T. Brousseau M, et al. Among authors: saintpierre b. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165730. doi: 10.1016/j.bbadis.2020.165730. Epub 2020 Feb 15. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32070770 Free article.
Small RNA-sequencing reveals the involvement of microRNA-132 in benzo[a]pyrene-induced toxicity in primary human blood cells.
Souki R, Amosse J, Genêt V, Le Gall M, Saintpierre B, Letourneur F, Maître A, Demeilliers C, Le Ferrec E, Lagadic-Gossmann D, Podechard N, Sparfel L. Souki R, et al. Among authors: saintpierre b. Environ Pollut. 2023 Jul 1;328:121653. doi: 10.1016/j.envpol.2023.121653. Epub 2023 Apr 18. Environ Pollut. 2023. PMID: 37080521 Free article.
Highly rearranged mitochondrial genome in Nycteria parasites (Haemosporidia) from bats.
Karadjian G, Hassanin A, Saintpierre B, Gembu Tungaluna GC, Ariey F, Ayala FJ, Landau I, Duval L. Karadjian G, et al. Among authors: saintpierre b. Proc Natl Acad Sci U S A. 2016 Aug 30;113(35):9834-9. doi: 10.1073/pnas.1610643113. Epub 2016 Aug 15. Proc Natl Acad Sci U S A. 2016. PMID: 27528689 Free PMC article.
Outcome of SARS-CoV-2 infection is linked to MAIT cell activation and cytotoxicity.
Flament H, Rouland M, Beaudoin L, Toubal A, Bertrand L, Lebourgeois S, Rousseau C, Soulard P, Gouda Z, Cagninacci L, Monteiro AC, Hurtado-Nedelec M, Luce S, Bailly K, Andrieu M, Saintpierre B, Letourneur F, Jouan Y, Si-Tahar M, Baranek T, Paget C, Boitard C, Vallet-Pichard A, Gautier JF, Ajzenberg N, Terrier B, Pène F, Ghosn J, Lescure X, Yazdanpanah Y, Visseaux B, Descamps D, Timsit JF, Monteiro RC, Lehuen A. Flament H, et al. Among authors: saintpierre b. Nat Immunol. 2021 Mar;22(3):322-335. doi: 10.1038/s41590-021-00870-z. Epub 2021 Feb 2. Nat Immunol. 2021. PMID: 33531712
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