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Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: losada a. Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17. Clin Genet. 2014. PMID: 23683030
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Pié J, et al. Among authors: losada a. Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. Am J Med Genet A. 2010. PMID: 20358602 Free PMC article.
Cohesin ties up the genome.
Carretero M, Remeseiro S, Losada A. Carretero M, et al. Among authors: losada a. Curr Opin Cell Biol. 2010 Dec;22(6):781-7. doi: 10.1016/j.ceb.2010.07.004. Epub 2010 Jul 31. Curr Opin Cell Biol. 2010. PMID: 20675112 Review.
A unique role of cohesin-SA1 in gene regulation and development.
Remeseiro S, Cuadrado A, Gómez-López G, Pisano DG, Losada A. Remeseiro S, et al. Among authors: losada a. EMBO J. 2012 May 2;31(9):2090-102. doi: 10.1038/emboj.2012.60. Epub 2012 Mar 13. EMBO J. 2012. PMID: 22415368 Free PMC article.
Cohesin, a chromatin engagement ring.
Remeseiro S, Losada A. Remeseiro S, et al. Among authors: losada a. Curr Opin Cell Biol. 2013 Feb;25(1):63-71. doi: 10.1016/j.ceb.2012.10.013. Epub 2012 Dec 6. Curr Opin Cell Biol. 2013. PMID: 23219370 Review.
Cohesin in development and disease.
Remeseiro S, Cuadrado A, Losada A. Remeseiro S, et al. Among authors: losada a. Development. 2013 Sep;140(18):3715-8. doi: 10.1242/dev.090605. Development. 2013. PMID: 23981654 Review.
300 results