المؤلفون: Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

مصطلحات موضوعية: cis‐regulatory elements, genetic diagnosis, spastic paraplegia 11, SPG11, whole transcriptome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2Test

المؤلفون: Mel·lina Pinsach-Abuin, Bernat del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans

المصدر: Cell Reports Medicine, Vol 2, Iss 4, Pp 100250- (2021)

مصطلحات موضوعية: GWAS, haplotype block, common SNV, non-coding SNV, SNV redundancy, risk haplotype, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666379121000665Test; https://doaj.org/toc/2666-3791Test

الوصول الحر: https://doaj.org/article/6c838ad5069a44029f4b3ea3f35643c1Test

المؤلفون: David Carreras, Rebecca Martinez-Moreno, Mel·lina Pinsach-Abuin, Manel M. Santafe, Pol Gomà, Ramon Brugada, Fabiana S. Scornik, Guillermo J. Pérez, Sara Pagans

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2755 (2021)

مصطلحات موضوعية: cardiac arrhythmias, Scn5a, transcriptional regulation, epigenetic mechanisms, skeletal muscle denervation, histone modifications, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/5/2755Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/a32588b003224551925d60f5c2bd94e1Test

المؤلفون: Adrian Pérez-Agustín, Mel·lina Pinsach-Abuin, Sara Pagans

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 22, p 8556 (2020)

مصطلحات موضوعية: Brugada syndrome, arrhythmia, sudden cardiac death, non-coding variants, gene regulation, cis-regulatory elements, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/21/22/8556Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/65b9cdbebb5942b69aff3a7a20769355Test

المؤلفون: Ramon Brugada Terradellas, Mel·lina Pinsach-Abuin

المصدر: American Journal of Infectious Diseases. 17:150-160

مصطلحات موضوعية: Infectious Diseases, business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Medicine, business, Virology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b771fda6e9b539632c16b3584912dd06Test
https://doi.org/10.3844/ajidsp.2021.150.160Test

المؤلفون: Elisabet Selga, Oscar Campuzano, Mel Lina Pinsach-Abuin, Alexandra Pérez-Serra, Irene Mademont-Soler, Helena Riuró, Ferran Picó, Mònica Coll, Anna Iglesias, Sara Pagans, Georgia Sarquella-Brugada, Paola Berne, Begoña Benito, Josep Brugada, José M Porres, Matilde López Zea, Víctor Castro-Urda, Ignacio Fernández-Lozano, Ramon Brugada

المصدر: PLoS ONE, Vol 10, Iss 7, p e0132888 (2015)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4501715?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/56d014539506423fac918d59e1ae5a25Test

الإتاحة: https://doi.org/10.1371/journal.pone.0132888Test
https://doaj.org/article/56d014539506423fac918d59e1ae5a25Test

المؤلفون: Ivan Garcia-Bassets, Angels Almenar-Queralt, Likun Yao, Bernat del Olmo, Daria Merkurjev, Mel·lina Pinsach-Abuin

المصدر: Methods in Molecular Biology ISBN: 9781071621189

مصطلحات موضوعية: Cell culture, CRISPR, Protocadherin, Computational biology, Biology, Induced pluripotent stem cell, Chromatin immunoprecipitation, Embryonic stem cell, Regenerative medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61d3c9ede521632813245b1c1e20b318Test
https://doi.org/10.1007/7651_2021_414Test

المؤلفون: Manel M. Santafé, Mel·lina Pinsach-Abuin, Rebecca Martinez-Moreno, Guillermo J. Pérez, Sara Pagans, Ramon Brugada, David Carreras, Pol Gomà, Fabiana S. Scornik

المصدر: International Journal of Molecular Sciences, 2021, vol. 22, núm. 5, p. 2755
Articles publicats (D-CM)
Carreras, David Martínez Moreno, Rebecca Pinsach Abuin, Mel·lina Santafe, Manel M. Gomà, Pol Brugada, Ramon Scornik, Fabiana S. Pérez González, Guillermo J. Sara Pagans 2021 Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle International Journal of Molecular Sciences 22 5 2755
DUGiDocs – Universitat de Girona
instname
International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2755, p 2755 (2021)

مصطلحات موضوعية: Male, epigenetic mechanisms, Scn5a, Epigenesis, Genetic, NAV1.5 Voltage-Gated Sodium Channel, lcsh:Chemistry, Rats, Sprague-Dawley, Transcriptome, Transcriptional regulation, transcriptional regulation, RNA-Seq, lcsh:QH301-705.5, Spectroscopy, Denervation, histone modifications, GATA4, Cardiac action potential, General Medicine, Muscle Denervation, Computer Science Applications, Cell biology, medicine.anatomical_structure, cardiac arrhythmias, cardiovascular system, Epigenetics, Arrhythmia, Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, Arrítmia, Biology, Response Elements, Article, Catalysis, Inorganic Chemistry, Cor -- Malalties, Cor -- Malalties -- Aspectes genètics, skeletal muscle denervation, medicine, Animals, cardiovascular diseases, Physical and Theoretical Chemistry, Muscle, Skeletal, Molecular Biology, Transcription factor, Organic Chemistry, Skeletal muscle, Heart -- Diseases -- Genetic aspects, Heart -- Diseases, Epigenètica, GATA4 Transcription Factor, Rats, lcsh:Biology (General), lcsh:QD1-999, H3K27 acetylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597ed01be0f98dfdf62b40de59bb2b08Test
http://hdl.handle.net/10256/19324Test

المؤلفون: Julia di Iulio, Catarina Allegue, Melissa Gymrek, Sergiy Konovalov, Amalio Telenti, Farah Sheikh, Josep Brugada, Adrian Pérez-Agustin, Jesus Mates, Jing Zhang, Sara Pagans, Ivan Garcia-Bassets, Qi Ma, Mel·lina Pinsach-Abuin, Bernat del Olmo, Anna Iglesias, Ramon Brugada, Daria Merkurjev

المصدر: Cell Reports Medicine
Cell Reports Medicine, 2021, vol. 2, núm. 4, p. 100250
Articles publicats (D-CM)
Pinsach Abuin, Mel·lina Olmo, Bernat del Pérez Agustín, Adrian Matés Ramírez, Jesús Allegue Toscano, Catarina Iglesias, Anna Ma, Qi Merkurjev, Daria Konovalov, Sergiy Zhang, Jing Sheikh, Farah Telenti, Amalio Brugada Terradellas, Josep Brugada, Ramon Gymrek, Melissa Di Iulio, Julia Garcia Bassets, Ivan Pagans i Lista, Sara 2021 Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants Cell Reports Medicine 2 4 100250
DUGiDocs – Universitat de Girona
instname
Cell Reports Medicine, Vol 2, Iss 4, Pp 100250-(2021)

مصطلحات موضوعية: Adult, Medicine (General), Linkage disequilibrium, Genotype, Quantitative Trait Loci, Arrítmia, Context (language use), Locus (genetics), Genome-wide association study, Computational biology, Biology, Polymorphism, Single Nucleotide, Article, protective haplotype, sudden cardiac death, Linkage Disequilibrium, General Biochemistry, Genetics and Molecular Biology, risk haplotype, R5-920, common SNV, Cor -- Malalties -- Aspectes genètics, Cardiac conduction, GWAS, Humans, Brugada syndrome, Genetic Predisposition to Disease, Genetic Testing, Genetic association, Brugada, Síndrome de, Sudden death, Mort sobtada, Haplotype, Heart -- Diseases -- Genetic aspects, Middle Aged, haplotype block, non-coding SNV, Phenotype, Haplotypes, long-read sequencing, SNV redundancy, Arrhythmia, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebf6a1dd4d61e81facebbbb85badcc2Test
https://doi.org/10.1016/j.xcrm.2021.100250Test

المؤلفون: Ramon Brugada, Carlos Mackintosh, Anna Tarradas, Montserrat Batlle, Oriol Llorà-Batlle, Sara Pagans, Thomas Zimmer, Pedro Beltran-Alvarez, Félix Pérez-Villa, Ivan Garcia-Bassets, Mel·lina Pinsach-Abuin, Alexandra Pérez-Serra

المصدر: © Journal of Molecular and Cellular Cardiology, 2017, vol. 102, p. 74-82
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname
Recercat. Dipósit de la Recerca de Catalunya

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Transcription, Genetic, GATA5 Transcription Factor, Biology, Cell Line, NAV1.5 Voltage-Gated Sodium Channel, 03 medical and health sciences, 0302 clinical medicine, Cor -- Malalties, Transcriptional regulation, Animals, Humans, RNA, Messenger, cardiovascular diseases, RNA, Small Interfering, Promoter Regions, Genetic, Gene, Transcription factor, Molecular Biology, Genetics, GATA6, Binding Sites, GATA4, Gene Expression Profiling, Myocardium, GATA2, Heart -- Diseases, GATA4 Transcription Factor, Rats, 030104 developmental biology, Gene Expression Regulation, Arítmia, Mutation, embryonic structures, cardiovascular system, GATA transcription factor, Cardiology and Cardiovascular Medicine, Chromatin immunoprecipitation, 030217 neurology & neurosurgery, Arrhythmia, Protein Binding

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5650f80e67487d35d68b54378fd6ca0dTest