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Page 1
Identification of risk loci for primary aldosteronism in genome-wide association studies.
Le Floch E, Cosentino T, Larsen CK, Beuschlein F, Reincke M, Amar L, Rossi GP, De Sousa K, Baron S, Chantalat S, Saintpierre B, Lenzini L, Frouin A, Giscos-Douriez I, Ferey M, Abdellatif AB, Meatchi T, Empana JP, Jouven X, Gieger C, Waldenberger M, Peters A, Cusi D, Salvi E, Meneton P, Touvier M, Deschasaux M, Druesne-Pecollo N, Boulkroun S, Fernandes-Rosa FL, Deleuze JF, Jeunemaitre X, Zennaro MC. Le Floch E, et al. Among authors: saintpierre b. Nat Commun. 2022 Sep 3;13(1):5198. doi: 10.1038/s41467-022-32896-8. Nat Commun. 2022. PMID: 36057693 Free PMC article.
DLK1/DIO3 locus upregulation by a β-catenin-dependent enhancer drives cell proliferation and liver tumorigenesis.
Sanceau J, Poupel L, Joubel C, Lagoutte I, Caruso S, Pinto S, Desbois-Mouthon C, Godard C, Hamimi A, Montmory E, Dulary C, Chantalat S, Roehrig A, Muret K, Saint-Pierre B, Deleuze JF, Mouillet-Richard S, Forné T, Grosset CF, Zucman-Rossi J, Colnot S, Gougelet A. Sanceau J, et al. Mol Ther. 2024 Apr 3;32(4):1125-1143. doi: 10.1016/j.ymthe.2024.01.036. Epub 2024 Feb 3. Mol Ther. 2024. PMID: 38311851 Free article.
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.
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
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.
23 results