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Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M. Pagliara D, et al. Among authors: miele e. Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20. Am J Hum Genet. 2023. PMID: 37865086 Free PMC article.
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E. Miele E, et al. Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015. Biomark Res. 2015. PMID: 26064523 Free PMC article.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: miele e. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. Ciolfi A, et al. Among authors: miele e. Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0. Clin Epigenetics. 2020. PMID: 31910894 Free PMC article.
Modeling medulloblastoma in vivo and with human cerebellar organoids.
Ballabio C, Anderle M, Gianesello M, Lago C, Miele E, Cardano M, Aiello G, Piazza S, Caron D, Gianno F, Ciolfi A, Pedace L, Mastronuzzi A, Tartaglia M, Locatelli F, Ferretti E, Giangaspero F, Tiberi L. Ballabio C, et al. Among authors: miele e. Nat Commun. 2020 Jan 29;11(1):583. doi: 10.1038/s41467-019-13989-3. Nat Commun. 2020. PMID: 31996670 Free PMC article.
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Lodi M, et al. Among authors: miele e. Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. Diagnostics (Basel). 2020. PMID: 32806529 Free PMC article.
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Carta R, et al. Among authors: miele e. Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. Front Oncol. 2020. PMID: 33194646 Free PMC article. Review.
460 results