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Page 1
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: liorni n. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
Epigenetic and transcriptional control of adipocyte function by centenarian-associated SIRT6 N308K/A313S mutant.
Frohlich J, Liorni N, Mangoni M, Lochmanová G, Pírek P, Kaštánková N, Pata P, Kucera J, Chaldakov GN, Tonchev AB, Pata I, Gorbunova V, Leire E, Zdráhal Z, Mazza T, Vinciguerra M. Frohlich J, et al. Among authors: liorni n. Clin Epigenetics. 2024 Jul 20;16(1):96. doi: 10.1186/s13148-024-01710-1. Clin Epigenetics. 2024. PMID: 39033117 Free PMC article.
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma.
Biagini T, Petrizzelli F, Bianco SD, Liorni N, Napoli A, Castellana S, Luigi Vescovi A, Carella M, Caputo V, Mazza T. Biagini T, et al. Among authors: liorni n. Comput Struct Biotechnol J. 2022 Jun 18;20:3151-3160. doi: 10.1016/j.csbj.2022.06.041. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35782738 Free PMC article.