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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: musio a. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
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.
Cohesin mutations are synthetic lethal with stimulation of WNT signaling.
Chin CV, Antony J, Ketharnathan S, Labudina A, Gimenez G, Parsons KM, He J, George AJ, Pallotta MM, Musio A, Braithwaite A, Guilford P, Hannan RD, Horsfield JA. Chin CV, et al. Among authors: musio a. Elife. 2020 Dec 7;9:e61405. doi: 10.7554/eLife.61405. Elife. 2020. PMID: 33284104 Free PMC article.
The multifaceted roles of cohesin in cancer.
Di Nardo M, Pallotta MM, Musio A. Di Nardo M, et al. Among authors: musio a. J Exp Clin Cancer Res. 2022 Mar 14;41(1):96. doi: 10.1186/s13046-022-02321-5. J Exp Clin Cancer Res. 2022. PMID: 35287703 Free PMC article. Review.
108 results