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Page 1
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: de cubas aa. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: de cubas aa, de quiros sb, de krijger rr. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: de cubas aa. Hum Mol Genet. 2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418310
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.
de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I, Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E, Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C, Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M. de Cubas AA, et al. Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print 2013 Aug. Endocr Relat Cancer. 2013. PMID: 23660872
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M. Cascón A, et al. Among authors: de cubas aa. J Natl Cancer Inst. 2015 Mar 11;107(5):djv053. doi: 10.1093/jnci/djv053. J Natl Cancer Inst. 2015. PMID: 25766404
Functional and in silico assessment of MAX variants of unknown significance.
Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: de cubas aa. J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14. J Mol Med (Berl). 2015. PMID: 26070438
Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.
Maliszewska A, Leandro-Garcia LJ, Castelblanco E, Macià A, de Cubas A, Goméz-López G, Inglada-Pérez L, Álvarez-Escolá C, De la Vega L, Letón R, Gómez-Graña Á, Landa I, Cascón A, Rodríguez-Antona C, Borrego S, Zane M, Schiavi F, Merante-Boschin I, Pelizzo MR, Pisano DG, Opocher G, Matias-Guiu X, Encinas M, Robledo M. Maliszewska A, et al. Am J Pathol. 2013 Feb;182(2):350-62. doi: 10.1016/j.ajpath.2012.10.025. Epub 2012 Nov 28. Am J Pathol. 2013. PMID: 23201134 Free article.
Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez-Antona C, Letón R, Bernal C, de Campos JM, Diez-Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M, Cascón A. López-Jiménez E, et al. Among authors: de la vega l, de campos jm, de cubas aa. Mol Endocrinol. 2010 Dec;24(12):2382-91. doi: 10.1210/me.2010-0256. Epub 2010 Oct 27. Mol Endocrinol. 2010. PMID: 20980436 Free PMC article.
Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.
Leandro-García LJ, Leskelä S, Jara C, Gréen H, Avall-Lundqvist E, Wheeler HE, Dolan ME, Inglada-Perez L, Maliszewska A, de Cubas AA, Comino-Méndez I, Mancikova V, Cascón A, Robledo M, Rodríguez-Antona C. Leandro-García LJ, et al. Among authors: de cubas aa. Clin Cancer Res. 2012 Aug 15;18(16):4441-8. doi: 10.1158/1078-0432.CCR-12-1221. Epub 2012 Jun 20. Clin Cancer Res. 2012. PMID: 22718863 Free PMC article.
Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.
Leandro-García LJ, Leskelä S, Inglada-Pérez L, Landa I, de Cubas AA, Maliszewska A, Comino-Méndez I, Letón R, Gómez-Graña Á, Torres R, Ramírez JC, Álvarez S, Rivera J, Martínez C, Lozano ML, Cascón A, Robledo M, Rodríguez-Antona C. Leandro-García LJ, et al. Among authors: de cubas aa. Cancer Res. 2012 Sep 15;72(18):4744-52. doi: 10.1158/0008-5472.CAN-11-2861. Epub 2012 Jul 17. Cancer Res. 2012. PMID: 22805305
47 results