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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E. Puente XS, et al. Nature. 2011 Jun 5;475(7354):101-5. doi: 10.1038/nature10113. Nature. 2011. PMID: 21642962 Free PMC article.
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C. Valdés-Mas R, et al. Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326. Nat Commun. 2014. PMID: 25351925 Free article.
The U1 spliceosomal RNA is recurrently mutated in multiple cancers.
Shuai S, Suzuki H, Diaz-Navarro A, Nadeu F, Kumar SA, Gutierrez-Fernandez A, Delgado J, Pinyol M, López-Otín C, Puente XS, Taylor MD, Campo E, Stein LD. Shuai S, et al. Nature. 2019 Oct;574(7780):712-716. doi: 10.1038/s41586-019-1651-z. Epub 2019 Oct 9. Nature. 2019. PMID: 31597163
Comparative genomic analysis of human and chimpanzee proteases.
Puente XS, Gutiérrez-Fernández A, Ordóñez GR, Hillier LW, López-Otín C. Puente XS, et al. Genomics. 2005 Dec;86(6):638-47. doi: 10.1016/j.ygeno.2005.07.009. Epub 2005 Sep 12. Genomics. 2005. PMID: 16162398 Free article.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Puente XS, et al. Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549337 Free PMC article.
NF-κB activation impairs somatic cell reprogramming in ageing.
Soria-Valles C, Osorio FG, Gutiérrez-Fernández A, De Los Angeles A, Bueno C, Menéndez P, Martín-Subero JI, Daley GQ, Freije JM, López-Otín C. Soria-Valles C, et al. Nat Cell Biol. 2015 Aug;17(8):1004-13. doi: 10.1038/ncb3207. Epub 2015 Jul 27. Nat Cell Biol. 2015. PMID: 26214134 Retracted.
61 results