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New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM. Daga S, et al. Eur J Hum Genet. 2020 Apr;28(4):480-490. doi: 10.1038/s41431-019-0537-8. Epub 2019 Nov 21. Eur J Hum Genet. 2020. PMID: 31754267 Free PMC article.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I. Landucci E, et al. Among authors: daga s. Exp Cell Res. 2018 Jul 15;368(2):225-235. doi: 10.1016/j.yexcr.2018.05.001. Epub 2018 May 4. Exp Cell Res. 2018. PMID: 29730163 Free PMC article.
Non-collagen genes role in digenic Alport syndrome.
Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5. BMC Nephrol. 2019. PMID: 30808327 Free PMC article.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: daga s. Eur J Hum Genet. 2020 Sep;28(9):1231-1242. doi: 10.1038/s41431-020-0624-x. Epub 2020 Apr 24. Eur J Hum Genet. 2020. PMID: 32332872 Free PMC article.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: daga s. Eur J Hum Genet. 2020 Oct;28(10):1446-1458. doi: 10.1038/s41431-020-0652-6. Epub 2020 Jun 15. Eur J Hum Genet. 2020. PMID: 32541681 Free PMC article.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.
Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, Doddato G, Giliberti A, Marconi C, Musacchia F, Pippucci T, Torella A, Trezza A, Valentino F, Baldassarri M, Brusco A, Asselta R, Bruttini M, Furini S, Seri M, Nigro V, Matullo G, Tartaglia M, Mari F; GEN-COVID Multicenter Study; Renieri A, Pinto AM. Benetti E, et al. Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17. Eur J Hum Genet. 2020. PMID: 32681121 Free PMC article.
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, Furini S; GEN-COVID Multicenter Study; Renieri A, Mari F. Benetti E, et al. PLoS One. 2020 Nov 18;15(11):e0242534. doi: 10.1371/journal.pone.0242534. eCollection 2020. PLoS One. 2020. PMID: 33206719 Free PMC article.
220 results