Výsledky vyhledávání

Akademický článek

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

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

Zobrazit plný text záznamu

Akademický článek

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive gen

Externí odkaz: https://doaj.org/article/c52142240d0240338c8956657072679f

Zobrazit plný text záznamu

Akademický článek

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Autor: Monica Coll, Carles Ferrer-Costa, Sara Pich, Catarina Allegue, Emilio Rodrigo, Gema Fernández-Fresnedo, Paloma Barreda, Jesus Mates, Angel Luis Martinez de Francisco, Israel Ortega, Anna Iglesias, Oscar Campuzano, Eduardo Salas, Manuel Arias, Ramon Brugada

Publikováno v: PLoS ONE, Vol 13, Iss 7, p e0200756 (2018)

BACKGROUND:Patients with end-stage renal disease have very high mortality. In individuals on hemodialysis, cardiovascular deaths account for ~50% of all deaths in this population, mostly due to arrhythmia. To determine the causes of these arrhythmic

Externí odkaz: https://doaj.org/article/cdd76455697a4eaa8755ddad27d0f7bd

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Publikováno v: PLoS ONE, Vol 12, Iss 8, p e0181465 (2017)

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants

Externí odkaz: https://doaj.org/article/9f5be2534dbf49598b80bc70f35fc1cd

Zobrazit plný text záznamu

Akademický článek

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Publikováno v: PLoS ONE, Vol 11, Iss 12, p e0167358 (2016)

Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the

Externí odkaz: https://doaj.org/article/bb5dad0a0afa4dc7a78990c00741d26c

Zobrazit plný text záznamu

Akademický článek

Large Genomic Imbalances in Brugada Syndrome.

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

Zobrazit plný text záznamu

Akademický článek

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

Autor: Monica Coll, Alexandra Pérez-Serra, Jesus Mates, Bernat del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, Ferran Picó, Laura Lopez, Ramon Brugada, Oscar Campuzano

Publikováno v: Biology, Vol 7, Iss 1, p 3 (2017)

Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac

Externí odkaz: https://doaj.org/article/489d0f151ea245c5b440bcb5b10948f4

Zobrazit plný text záznamu

Akademický článek

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Autor: Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0133037 (2015)

The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and associated with 30-35% of cases of Brugada Syndrome, with nearly

Externí odkaz: https://doaj.org/article/f627f7a503464b928c480bc7e1cfbb7d

Zobrazit plný text záznamu

Akademický článek

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

Autor: Oscar Campuzano, Georgia Sarquella-Brugada, Irene Mademont-Soler, Catarina Allegue, Sergi Cesar, Carles Ferrer-Costa, Monica Coll, Jesus Mates, Anna Iglesias, Josep Brugada, Ramon Brugada

Publikováno v: PLoS ONE, Vol 9, Iss 12, p e114894 (2014)

BACKGROUND:Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due to ventricular arrhythmias. Despite that several genes have been associated with the disease, nearly 20% of cases remain without an identified genetic cause

Externí odkaz: https://doaj.org/article/d70a034a4073493e812d0fcb9285f350

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání