Musio A - Search Results

1

Musio A. Musio A. Gene. 2020 Jun 15;743:144612. doi: 10.1016/j.gene.2020.144612. Epub 2020 Mar 25. Gene. 2020. PMID: 32222533 Free PMC article. Review.

2

Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes.

Musio A, Mariani T, Montagna C, Zambroni D, Ascoli C, Ried T, Vezzoni P. Musio A, et al. Gene. 2004 Apr 28;331:33-40. doi: 10.1016/j.gene.2004.01.028. Gene. 2004. PMID: 15094189

3

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

4

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

Mannini L, Liu J, Krantz ID, Musio A. Mannini L, et al. Among authors: musio a. Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129. Hum Mutat. 2010. PMID: 19842212 Free PMC article. Review.

5

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Mannini L, Menga S, Tonelli A, Zanotti S, Bassi MT, Magnani C, Musio A. Mannini L, et al. Among authors: musio a. Am J Med Genet A. 2012 Jan;158A(1):224-8. doi: 10.1002/ajmg.a.34384. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140011

6

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

Cucco F, Servadio A, Gatti V, Bianchi P, Mannini L, Prodosmo A, De Vitis E, Basso G, Friuli A, Laghi L, Soddu S, Fontanini G, Musio A. Cucco F, et al. Among authors: musio a. Hum Mol Genet. 2014 Dec 20;23(25):6773-8. doi: 10.1093/hmg/ddu394. Epub 2014 Jul 30. Hum Mol Genet. 2014. PMID: 25080505

7

Separase prevents genomic instability by controlling replication fork speed.

Cucco F, Palumbo E, Camerini S, D'Alessio B, Quarantotti V, Casella ML, Rizzo IM, Cukrov D, Delia D, Russo A, Crescenzi M, Musio A. Cucco F, et al. Among authors: musio a. Nucleic Acids Res. 2018 Jan 9;46(1):267-278. doi: 10.1093/nar/gkx1172. Nucleic Acids Res. 2018. PMID: 29165708 Free PMC article.

8

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.

Cukrov D, Newman TAC, Leask M, Leeke B, Sarogni P, Patimo A, Kline AD, Krantz ID, Horsfield JA, Musio A. Cukrov D, et al. Among authors: musio a. Hum Mol Genet. 2018 Sep 1;27(17):3002-3011. doi: 10.1093/hmg/ddy203. Hum Mol Genet. 2018. PMID: 29860495

9

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.

Sarogni P, Palumbo O, Servadio A, Astigiano S, D'Alessio B, Gatti V, Cukrov D, Baldari S, Pallotta MM, Aretini P, Dell'Orletta F, Soddu S, Carella M, Toietta G, Barbieri O, Fontanini G, Musio A. Sarogni P, et al. Among authors: musio a. J Exp Clin Cancer Res. 2019 Mar 1;38(1):108. doi: 10.1186/s13046-019-1116-0. J Exp Clin Cancer Res. 2019. PMID: 30823889 Free PMC article.

10

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

Sarogni P, Pallotta MM, Musio A. Sarogni P, et al. Among authors: musio a. J Med Genet. 2020 May;57(5):289-295. doi: 10.1136/jmedgenet-2019-106277. Epub 2019 Nov 8. J Med Genet. 2020. PMID: 31704779 Free PMC article. Review.

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