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Page 1
Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle.
Carreras D, Martinez-Moreno R, Pinsach-Abuin ML, Santafe MM, Gomà P, Brugada R, Scornik FS, Pérez GJ, Pagans S. Carreras D, et al. Among authors: pinsach abuin ml. Int J Mol Sci. 2021 Mar 9;22(5):2755. doi: 10.3390/ijms22052755. Int J Mol Sci. 2021. PMID: 33803193 Free PMC article.
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E, Campuzano O, Pinsach-Abuin ML, Pérez-Serra A, Mademont-Soler I, Riuró H, Picó F, Coll M, Iglesias A, Pagans S, Sarquella-Brugada G, Berne P, Benito B, Brugada J, Porres JM, López Zea M, Castro-Urda V, Fernández-Lozano I, Brugada R. Selga E, et al. PLoS One. 2015 Jul 14;10(7):e0132888. doi: 10.1371/journal.pone.0132888. eCollection 2015. PLoS One. 2015. PMID: 26173111 Free PMC article.
Large Genomic Imbalances in Brugada Syndrome.
Mademont-Soler I, Pinsach-Abuin ML, Riuró H, Mates J, Pérez-Serra A, Coll M, Porres JM, Del Olmo B, Iglesias A, Selga E, Picó F, Pagans S, Ferrer-Costa C, Sarquella-Brugada G, Arbelo E, Cesar S, Brugada J, Campuzano Ó, Brugada R. Mademont-Soler I, et al. PLoS One. 2016 Sep 29;11(9):e0163514. doi: 10.1371/journal.pone.0163514. eCollection 2016. PLoS One. 2016. PMID: 27684715 Free PMC article.
Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart.
Tarradas A, Pinsach-Abuin ML, Mackintosh C, Llorà-Batlle O, Pérez-Serra A, Batlle M, Pérez-Villa F, Zimmer T, Garcia-Bassets I, Brugada R, Beltran-Alvarez P, Pagans S. Tarradas A, et al. J Mol Cell Cardiol. 2017 Jan;102:74-82. doi: 10.1016/j.yjmcc.2016.10.013. Epub 2016 Nov 26. J Mol Cell Cardiol. 2017. PMID: 27894866 Free article.
Do sodium channel proteolytic fragments regulate sodium channel expression?
Onwuli DO, Yañez-Bisbe L, Pinsach-Abuin ML, Tarradas A, Brugada R, Greenman J, Pagans S, Beltran-Alvarez P. Onwuli DO, et al. Channels (Austin). 2017 Sep 3;11(5):476-481. doi: 10.1080/19336950.2017.1355663. Epub 2017 Jul 18. Channels (Austin). 2017. PMID: 28718687 Free PMC article.
Role of Non-Coding Variants in Brugada Syndrome.
Pérez-Agustín A, Pinsach-Abuin ML, Pagans S. Pérez-Agustín A, et al. Int J Mol Sci. 2020 Nov 13;21(22):8556. doi: 10.3390/ijms21228556. Int J Mol Sci. 2020. PMID: 33202810 Free PMC article. Review.
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Pinsach-Abuin ML, Del Olmo B, Pérez-Agustin A, Mates J, Allegue C, Iglesias A, Ma Q, Merkurjev D, Konovalov S, Zhang J, Sheikh F, Telenti A, Brugada J, Brugada R, Gymrek M, di Iulio J, Garcia-Bassets I, Pagans S. Pinsach-Abuin ML, et al. Cell Rep Med. 2021 Apr 20;2(4):100250. doi: 10.1016/j.xcrm.2021.100250. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948580 Free PMC article.
High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.
Puigmulé M, Coll M, Pérez-Serra A, López L, Picó F, Neto N, Corona M, Pinsach-Abuin ML, Ferrer-Costa C, Buxó M, Queralt FX, Brugada R. Puigmulé M, et al. Among authors: pinsach abuin ml. Exp Biol Med (Maywood). 2022 Feb;247(3):276-281. doi: 10.1177/15353702211054768. Epub 2021 Dec 14. Exp Biol Med (Maywood). 2022. PMID: 34903068 Free PMC article.
Novel genes and sex differences in COVID-19 severity.
Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Silbiger V… See abstract for full author list ➔ Cruz R, et al. Among authors: pinsach abuin ml. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. Hum Mol Genet. 2022. PMID: 35708486 Free PMC article.
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 May;617(7962):764-768. doi: 10.1038/s41586-023-06034-3. Epub 2023 May 17. Nature. 2023. PMID: 37198478 Free PMC article.
16 results