Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

62 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H, Kumar SA, Shuai S, Diaz-Navarro A, Gutierrez-Fernandez A, De Antonellis P, Cavalli FMG, Juraschka K, Farooq H, Shibahara I, Vladoiu MC, Zhang J, Abeysundara N, Przelicki D, Skowron P, Gauer N, Luu B, Daniels C, Wu X, Forget A, Momin A, Wang J, Dong W, Kim SK, Grajkowska WA, Jouvet A, Fèvre-Montange M, Garrè ML, Nageswara Rao AA, Giannini C, Kros JM, French PJ, Jabado N, Ng HK, Poon WS, Eberhart CG, Pollack IF, Olson JM, Weiss WA, Kumabe T, López-Aguilar E, Lach B, Massimino M, Van Meir EG, Rubin JB, Vibhakar R, Chambless LB, Kijima N, Klekner A, Bognár L, Chan JA, Faria CC, Ragoussis J, Pfister SM, Goldenberg A, Wechsler-Reya RJ, Bailey SD, Garzia L, Morrissy AS, Marra MA, Huang X, Malkin D, Ayrault O, Ramaswamy V, Puente XS, Calarco JA, Stein L, Taylor MD. Suzuki H, et al. Nature. 2019 Oct;574(7780):707-711. doi: 10.1038/s41586-019-1650-0. Epub 2019 Oct 9. Nature. 2019. PMID: 31664194 Free PMC 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
PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2.
Bousquets-Muñoz P, Díaz-Navarro A, Nadeu F, Sánchez-Pitiot A, López-Tamargo S, Shuai S, Balbín M, Tubio JMC, Beà S, Martin-Subero JI, Gutiérrez-Fernández A, Stein LD, Campo E, Puente XS. Bousquets-Muñoz P, et al. Among authors: gutierrez fernandez a. NPJ Genom Med. 2022 Mar 14;7(1):19. doi: 10.1038/s41525-022-00292-2. NPJ Genom Med. 2022. PMID: 35288589 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.
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.
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.
62 results