Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Sara Pagans"'
Autor:
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)
Abstract In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic differences by chromosomal copy, also known as phasing, is ach
Externí odkaz:
https://doaj.org/article/b8afd924ceaa4f0296cb028615756b0d
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
Autor:
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
Publikováno v:
Cell Reports Medicine, Vol 2, Iss 4, Pp 100250- (2021)
Summary: Genome-wide association studies (GWASs) are instrumental in identifying loci harboring common single-nucleotide variants (SNVs) that affect human traits and diseases. GWAS hits emerge in clusters, but the focus is often on the most significa
Externí odkaz:
https://doaj.org/article/6c838ad5069a44029f4b3ea3f35643c1
Autor:
Irene Mademont-Soler, Mel Lina Pinsach-Abuin, Helena Riuró, Jesus Mates, Alexandra Pérez-Serra, Mònica Coll, José Manuel Porres, Bernat Del Olmo, Anna Iglesias, Elisabet Selga, Ferran Picó, Sara Pagans, Carles Ferrer-Costa, Geòrgia Sarquella-Brugada, Elena Arbelo, Sergi Cesar, Josep Brugada, Óscar Campuzano, Ramon Brugada
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0163514 (2016)
Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about
Externí odkaz:
https://doaj.org/article/820185f90cb84d599db4cfbb29f8c698
Autor:
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
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0132888 (2015)
Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work wa
Externí odkaz:
https://doaj.org/article/56d014539506423fac918d59e1ae5a25
Autor:
Naoki Sakane, Hye-Sook Kwon, Sara Pagans, Katrin Kaehlcke, Yasuhiro Mizusawa, Masafumi Kamada, Kara G Lassen, Jonathan Chan, Warner C Greene, Martina Schnoelzer, Melanie Ott
Publikováno v:
PLoS Pathogens, Vol 7, Iss 8, p e1002184 (2011)
The essential transactivator function of the HIV Tat protein is regulated by multiple posttranslational modifications. Although individual modifications are well characterized, their crosstalk and dynamics of occurrence during the HIV transcription c
Externí odkaz:
https://doaj.org/article/e8bbd14a67a64ea1bf6db80e6b3b8149
Autor:
Sara Pagans, Angelika Pedal, Brian J North, Katrin Kaehlcke, Brett L Marshall, Alexander Dorr, Claudia Hetzer-Egger, Peter Henklein, Roy Frye, Michael W McBurney, Henning Hruby, Manfred Jung, Eric Verdin, Melanie Ott
Publikováno v:
PLoS Biology, Vol 3, Iss 2, p e41 (2005)
The human immunodeficiency virus (HIV) Tat protein is acetylated by the transcriptional coactivator p300, a necessary step in Tat-mediated transactivation. We report here that Tat is deacetylated by human sirtuin 1 (SIRT1), a nicotinamide adenine din
Externí odkaz:
https://doaj.org/article/1f4e87794ef5457ca7e901e53e2cc8de
Autor:
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen
In the human genome, heterozygous sites are genomic positions with different alleles inherited from each parent. On average, there is a heterozygous site every 1-2 kilobases (kb). Resolving whether two alleles in neighboring heterozygous positions ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ed28ac5173e4b02be474ca366de09aa
https://doi.org/10.1101/2023.03.05.531179
https://doi.org/10.1101/2023.03.05.531179
Autor:
Manel M. Santafé, Mel·lina Pinsach-Abuin, Rebecca Martinez-Moreno, Guillermo J. Pérez, Sara Pagans, Ramon Brugada, David Carreras, Pol Gomà, Fabiana S. Scornik
Publikováno v:
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)
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)
The SCN5A gene encodes the α-subunit of the voltage-gated cardiac sodium channel (NaV1.5), a key player in cardiac action potential depolarization. Genetic variants in protein-coding regions of the human SCN5A have been largely associated with inher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597ed01be0f98dfdf62b40de59bb2b08
http://hdl.handle.net/10256/19324
http://hdl.handle.net/10256/19324
Autor:
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
Publikováno v:
© 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
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname
Recercat. Dipósit de la Recerca de Catalunya
Aberrant expression of the sodium channel gene (SCN5A) has been proposed to disrupt cardiac action potential and cause human cardiac arrhythmias, but the mechanisms of SCN5A gene regulation and dysregulation still remain largely unexplored. To gain i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5650f80e67487d35d68b54378fd6ca0d