Listar por autor "Torrado, Mario"
Mostrando ítems 1-16 de 16
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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
Torrado, Mario; Fernández, Germán; Ganoza, Christian A.; Maneiro, Emilia; García, Diego; Sonicheva-Paterson, Natalia; Rosa, Isaac; Ochoa, Juan Pablo; Santomé, Luis; Vasichkina, Elena; Monserrat, Lorenzo (Nature, 2021-03-04)[Abstract] Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed ... -
A MicroRNA transcription factor blueprint for early atrial arrhytmogenic remodeling
Torrado, Mario; Franco, Diego; Lozano-Belasco, Estefanía; Hernández-Torres, Francisco; Calviño-Santos, Ramón; Aldama López, Guillermo; Centeno, Alberto; Castro-Beiras, Alfonso; Mikhailov, Alexander T. (Hindawi, 2015)[Abstract] Spontaneous self-terminating atrial fibrillation (AF) is one of the most common heart rhythm disorders, yet the regulatory molecular mechanisms underlying this syndrome are rather unclear. MicroRNA (miRNA) ... -
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Torrado, Mario; Maneiro, Emilia; Trujillo-Quintero, Juan Pablo; Evangelista, Arturo; Mikhailov, Alexander T.; Monserrat, Lorenzo (Hindawi, 2018)[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ... -
Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy
Lopes, Luis R.; Barbosa, Pedro; Torrado, Mario; Quinn, Ellie; Merino, Ana; Ocha, Juan Pablo; Jager, Joanna; Futema, Marta; Carmo-Fonseca, María; Montserrat, Lorenzo; Syrris, Petros; Elliott, Perry M. (American Heart Association, 2020-05-12) -
Detection of protein interactions based on GFP fragment complementation by fluorescence microscopy and spectrofluorometry
Torrado, Mario; Iglesias Reinoso, Raquel; Mikhailov, Alexander T. (Future Science, 2008)[Abstract] We have developed a set of simple modifications of the green fluorescent protein (GFP)fragment reassembly assay in bacteria that permits: (i)fluorescent microscopy visualization of GFP reassembly only 1-2 h after ... -
Exon-skipping brain natriuretic peptide variant is overexpressed in failing myocardium and attenuates brain natriuretic peptide production in vitro
Torrado, Mario; Iglesias Reinoso, Raquel; Centeno, Alberto; López, Eduardo; Mikhailov, Alexander T. (SAPE / Society for Experimental Biology and Medicine, 2010)[Abstract] Brain natriuretic peptide/natriuretic peptide precursor B (NPPB) is one of the most studied genes in relation to heart failure (HF) conditions. However, it is still unclear as to whether alternative splicing ... -
Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree
Torrado, Mario; Maneiro, Emilia; Mamounier Junior, Arsonval; Fernández-Burriel, Miguel; Sánchez Giralt, Sara; Martínez-Carapeto, Ana; Cazón, Laura; Santiago, Elisa; Ochoa, Juan Pablo; McKenna, William J.; Santomé, Luis; Monserrat, Lorenzo (Nature, 2022-05-04)[Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. ... -
Identification of candidate genes potentially relevant to chamber-specific remodeling in postnatal ventricular myocardium
Torrado, Mario; Iglesias Reinoso, Raquel; Nespereira, Beatriz; Mikhailov, Alexander T. (Hindawi, 2010)[Abstract] Molecular predisposition of postnatal ventricular myocardium to chamber-dependent (concentric or eccentric) remodeling remains largely elusive. To this end, we compared gene expression in the left (LV) versus ... -
In search of novel targets for heart disease: myocardin and myocardin-related transcriptional cofactors
Mikhailov, Alexander T.; Torrado, Mario (Hindawi, 2012)[Abstract] Growing evidence suggests that gene-regulatory networks, which are responsible for directing cardiovascular development, are altered under stress conditions in the adult heart. The cardiac gene regulatory network ... -
In vivo forced expression of myocardin in ventricular myocardium transiently impairs systolic performance in early neonatal pig heart
Torrado, Mario; Centeno, Alberto; López, Eduardo; Mikhailov, Alexander T. (UPV/EHU Press, 2008-01-30)[Abstract] The aim of this study was to determine the effects of forced expression of myocd-A in the left ventricular (LV) myocardium on cardiac performance in early neonatal piglets. LV transfection with the gene for ... -
Interplay between cardiac transcription factors and non-coding RNAs in predisposing to atrial fibrillation
Mikhailov, Alexander T.; Torrado, Mario (Springer, 2018)[Abstract] There is growing evidence that putative gene regulatory networks including cardio-enriched transcription factors, such as PITX2, TBX5, ZFHX3, and SHOX2, and their effector/target genes along with downstream ... -
Intron retention generates ANKRD1 splice variants that are co-regulated with the main transcript in normal and failing myocardium
Torrado, Mario; Iglesias, Raquel; Nespereira, Beatriz; Centeno, Alberto; López, Eduardo; Mikhailov, Alexander T. (Elsevier, 2009-03-31)[Abstract] The cardiac ankyrin repeat domain 1 protein (ANKRD1, also known as CARP) has been extensively characterized with regard to its proposed functions as a cardio-enriched transcriptional co-factor and stress-inducible ... -
Myocardial transcription factors in diastolic dysfunction: clues for model systems and disease
Mikhailov, Alexander T.; Torrado, Mario (Springer, 2016)[Abstract] There are multiple intrinsic mechanisms for diastolic dysfunction ranging from molecular to structural derangements in ventricular myocardium. The molecular mechanisms regulating the progression from normal ... -
Pitx2c is reactivated in the failing myocardium and stimulates Myf5 expression in cultured cardiomyocytes
Torrado, Mario; Franco, Diego; Hernández-Torres, Francisco; Crespo-Leiro, María Generosa; Iglesias-Gil, Carmen; Castro-Beiras, Alfonso; Mikhailov, Alexander T. (PLoS, 2014-03-04)[Abstract] Background. Pitx2 (paired-like homeodomain 2 transcription factor) is crucial for heart development, but its role in heart failure (HF) remains uncertain. The present study lays the groundwork implicating Pitx2 ... -
Targeted gene-silencing reveals the functional significance of myocardin signaling in the failing heart
Torrado, Mario; Iglesias Reinoso, Raquel; Centeno, Alberto; López, Eduardo; Mikhailov, Alexander T. (PLoS, 2011)[Abstract] Background. Myocardin (MYOCD), a potent transcriptional coactivator of smooth muscle (SM) and cardiac genes, is upregulated in failing myocardium in animal models and human end-stage heart failure (HF). However, ...