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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS); Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig… See abstract for full author list ➔ Degenhardt F, et al. Among authors: cherubini a. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. Hum Mol Genet. 2022. PMID: 35848942 Free PMC article.
Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women.
Cherubini A, Ostadreza M, Jamialahmadi O, Pelusi S, Rrapaj E, Casirati E, Passignani G, Norouziesfahani M, Sinopoli E, Baselli G, Meda C, Dongiovanni P, Dondossola D, Youngson N, Tourna A, Chokshi S, Bugianesi E; EPIDEMIC Study Investigators; Della Torre S, Prati D, Romeo S, Valenti L. Cherubini A, et al. Nat Med. 2023 Oct;29(10):2643-2655. doi: 10.1038/s41591-023-02553-8. Epub 2023 Sep 25. Nat Med. 2023. PMID: 37749332 Free PMC article.
Rare ATG7 genetic variants predispose patients to severe fatty liver disease.
Baselli GA, Jamialahmadi O, Pelusi S, Ciociola E, Malvestiti F, Saracino M, Santoro L, Cherubini A, Dongiovanni P, Maggioni M, Bianco C, Tavaglione F, Cespiati A, Mancina RM, D'Ambrosio R, Vaira V, Petta S, Miele L, Vespasiani-Gentilucci U, Federico A, Pihlajamaki J, Bugianesi E, Fracanzani AL, Reeves HL, Soardo G, Prati D, Romeo S, Valenti LV; EPIDEMIC Study Investigators. Baselli GA, et al. Among authors: cherubini a. J Hepatol. 2022 Sep;77(3):596-606. doi: 10.1016/j.jhep.2022.03.031. Epub 2022 Apr 9. J Hepatol. 2022. PMID: 35405176 Free article.
IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids.
Sasidharan K, Caddeo A, Jamialahmadi O, Noto FR, Tomasi M, Malvestiti F, Ciociola E, Tavaglione F, Mancina RM, Cherubini A, Bianco C, Mirarchi A, Männistö V, Pihlajamäki J, Kärjä V, Grimaudo S, Luukkonen PK, Qadri S, Yki-Järvinen H, Petta S, Manfrini S, Vespasiani-Gentilucci U, Bruni V, Valenti L, Romeo S. Sasidharan K, et al. Among authors: cherubini a. Cell Rep Med. 2024 Jan 16;5(1):101352. doi: 10.1016/j.xcrm.2023.101352. Cell Rep Med. 2024. PMID: 38232700 Free PMC article.
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E. Germani S, et al. Among authors: cherubini a. Cell Rep Med. 2024 Mar 19;5(3):101439. doi: 10.1016/j.xcrm.2024.101439. Epub 2024 Feb 22. Cell Rep Med. 2024. PMID: 38402623 Free PMC article.
32 results