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Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Among authors: surralles j. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 Free PMC article.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J. Osorio A, et al. Among authors: surralles j. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.
Belo H, Silva G, Cardoso BA, Porto B, Minguillon J, Barbot J, Coutinho J, Casado JA, Benedito M, Saturnino H, Costa E, Bueren JA, Surralles J, Almeida A. Belo H, et al. Among authors: surralles j. PLoS One. 2015 Oct 14;10(10):e0139740. doi: 10.1371/journal.pone.0139740. eCollection 2015. PLoS One. 2015. PMID: 26466379 Free PMC article.
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.
Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J. Reina-Castillón J, et al. Among authors: surralles j. Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. Blood Adv. 2017. PMID: 29296947 Free PMC article.
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J. Hernández G, et al. Among authors: surralles j. Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3. Nat Commun. 2018. PMID: 29511213 Free PMC article.
Therapeutic research in the crystal chromosome disease Fanconi anemia.
Minguillón J, Surrallés J. Minguillón J, et al. Among authors: surralles j. Mutat Res Genet Toxicol Environ Mutagen. 2018 Dec;836(Pt A):104-108. doi: 10.1016/j.mrgentox.2018.05.012. Epub 2018 May 7. Mutat Res Genet Toxicol Environ Mutagen. 2018. PMID: 30389152 Review.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: surralles j. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.
Ramírez MJ, Minguillón J, Loveless S, Lake K, Carrasco E, Stjepanovic N, Balmaña J, Català A, Mehta PA, Surrallés J. Ramírez MJ, et al. Among authors: surralles j. Cancer Lett. 2020 Mar 1;472:1-7. doi: 10.1016/j.canlet.2019.12.008. Epub 2019 Dec 10. Cancer Lett. 2020. PMID: 31830560
Gefitinib and Afatinib Show Potential Efficacy for Fanconi Anemia-Related Head and Neck Cancer.
Montanuy H, Martínez-Barriocanal Á, Antonio Casado J, Rovirosa L, Ramírez MJ, Nieto R, Carrascoso-Rubio C, Riera P, González A, Lerma E, Lasa A, Carreras-Puigvert J, Helleday T, Bueren JA, Arango D, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: surralles j. Clin Cancer Res. 2020 Jun 15;26(12):3044-3057. doi: 10.1158/1078-0432.CCR-19-1625. Epub 2020 Jan 31. Clin Cancer Res. 2020. PMID: 32005748 Free article.
135 results