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A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A. Marchena-Perea EM, et al. Among authors: curras freixes m. Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738. Cancers (Basel). 2022. PMID: 36230663 Free PMC article.
Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.
Remacha L, Comino-Méndez I, Richter S, Contreras L, Currás-Freixes M, Pita G, Letón R, Galarreta A, Torres-Pérez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M, Satrústegui J, Eisenhofer G, Robledo M, Cascón A. Remacha L, et al. Clin Cancer Res. 2017 Oct 15;23(20):6315-6324. doi: 10.1158/1078-0432.CCR-16-2250. Epub 2017 Jul 18. Clin Cancer Res. 2017. PMID: 28720665
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A. Remacha L, et al. Genet Med. 2018 Dec;20(12):1644-1651. doi: 10.1038/s41436-018-0003-y. Epub 2018 May 8. Genet Med. 2018. PMID: 29740169 Free article.
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A. Remacha L, et al. Am J Hum Genet. 2019 Apr 4;104(4):651-664. doi: 10.1016/j.ajhg.2019.02.017. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929736 Free PMC article.
Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma.
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M. Monteagudo M, et al. Among authors: curras freixes m. Cancers (Basel). 2021 Sep 23;13(19):4758. doi: 10.3390/cancers13194758. Cancers (Basel). 2021. PMID: 34638246 Free PMC article.
Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
Calvete O, Reyes J, Valdés-Socin H, Martin P, Marazuela M, Barroso A, Escalada J, Castells A, Torres-Ruiz R, Rodríguez-Perales S, Currás-Freixes M, Benítez J. Calvete O, et al. Among authors: curras freixes m. Cells. 2021 Dec 10;10(12):3500. doi: 10.3390/cells10123500. Cells. 2021. PMID: 34944008 Free PMC article.
Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers.
Montero-Conde C, Leandro-García LJ, Martínez-Montes ÁM, Martínez P, Moya FJ, Letón R, Gil E, Martínez-Puente N, Guadalix S, Currás-Freixes M, García-Tobar L, Zafon C, Jordà M, Riesco-Eizaguirre G, González-García P, Monteagudo M, Torres-Pérez R, Mancikova V, Ruiz-Llorente S, Pérez-Martínez M, Pita G, Galofré JC, Gonzalez-Neira A, Cascón A, Rodríguez-Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez-Perales S, Robledo M. Montero-Conde C, et al. Among authors: curras freixes m. Clin Transl Med. 2022 Aug;12(8):e1001. doi: 10.1002/ctm2.1001. Clin Transl Med. 2022. PMID: 35979662 Free PMC article.
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.
Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C. Apellániz-Ruiz M, et al. Pharmacogenomics J. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67. Epub 2014 Nov 4. Pharmacogenomics J. 2015. PMID: 25348618
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
Currás-Freixes M, Piñeiro-Yañez E, Montero-Conde C, Apellániz-Ruiz M, Calsina B, Mancikova V, Remacha L, Richter S, Ercolino T, Rogowski-Lehmann N, Deutschbein T, Calatayud M, Guadalix S, Álvarez-Escolá C, Lamas C, Aller J, Sastre-Marcos J, Lázaro C, Galofré JC, Patiño-García A, Meoro-Avilés A, Balmaña-Gelpi J, De Miguel-Novoa P, Balbín M, Matías-Guiu X, Letón R, Inglada-Pérez L, Torres-Pérez R, Roldán-Romero JM, Rodríguez-Antona C, Fliedner SMJ, Opocher G, Pacak K, Korpershoek E, de Krijger RR, Vroonen L, Mannelli M, Fassnacht M, Beuschlein F, Eisenhofer G, Cascón A, Al-Shahrour F, Robledo M. Currás-Freixes M, et al. J Mol Diagn. 2017 Jul;19(4):575-588. doi: 10.1016/j.jmoldx.2017.04.009. Epub 2017 May 25. J Mol Diagn. 2017. PMID: 28552549 Free PMC article.
Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
Apellániz-Ruiz M, Tejero H, Inglada-Pérez L, Sánchez-Barroso L, Gutiérrez-Gutiérrez G, Calvo I, Castelo B, Redondo A, García-Donás J, Romero-Laorden N, Sereno M, Merino M, Currás-Freixes M, Montero-Conde C, Mancikova V, Åvall-Lundqvist E, Green H, Al-Shahrour F, Cascón A, Robledo M, Rodríguez-Antona C. Apellániz-Ruiz M, et al. Clin Cancer Res. 2017 Mar 1;23(5):1227-1235. doi: 10.1158/1078-0432.CCR-16-0694. Epub 2016 Aug 31. Clin Cancer Res. 2017. PMID: 27582484 Free article.
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