Search Results - "Reguero, Julian R"

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function by Coto, Eliecer, Díaz-Corte, Carmen, Tranche, Salvador, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Reguero, Julián R., López-Larrea, Carlos, Coto-Segura, Pablo

“…The NF-kappaB pathway might play a role in the pathogenesis of renal disease and type 2 diabetes (T2DM). Our aim was to determine whether common polymorphisms…”
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Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing by Gómez, Juan, Reguero, Julian R., Morís, César, Martín, María, Alvarez, Victoria, Alonso, Belén, Iglesias, Sara, Coto, Eliecer

“…Background:Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing…”
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Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease by Coto, Eliecer, Reguero, Julián R., Avanzas, Pablo, Pascual, Isaac, Martín, María, Hevia, Sergio, Morís, César, Díaz-Molina, Beatriz, Lambert, José L., Alonso, Belén, Cuesta-LLavona, Elías, Díaz-Corte, Carmen, Gómez, Juan

“…•The nuclear-factor kappa-beta plays an important role in the pathogenesis of atherosclerosis and coronary artery disease (CAD).•Early-onset CAD was strongly…”
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Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy by Gómez, Juan, Lorca, Rebeca, Reguero, Julián R, Martín, María, Morís, César, Alonso, Belén, Iglesias, Sara, Díaz-Molina, Beatriz, Avanzas, Pablo, Coto, Eliecer

“…The long noncoding RNA H19 and its host micro RNA miR-675 have been found deregulated in cardiac hypertrophy and heart failure tissues. Our aim was to…”
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Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT by Coto, Eliecer, Calvo, David, Reguero, Julián R, Morís, César, Rubín, Jose M, Díaz-Corte, Carmen, Gil-Peña, Helena, Alosno, Belén, Iglesias, Sara, Gómez, Juan

“…To investigate whether the differential methylation of KCNQ1OT1 was associated with the risk of symptomatic long QTc. We investigated the methylation status of…”
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Profile of MicroRNAs Differentially Produced in Hearts from Patients with Hypertrophic Cardiomyopathy and Sarcomeric Mutations by PALACIN, Maria, REGUERO, Julian R, MARTIN, Maria, DIAZ MOLINA, Beatriz, MORIS, César, ALVAREZ, Victoria, COTO, Eliecer

“…Two of the patients were familial HCM patients who were carriers of missense mutations in the MYH72 (myosin, heavy chain 7, cardiac muscle, beta) gene…”
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Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy by Castro, Mónica G., Huerta, Cecilia, Reguero, Julián R., Soto, María Isabel, Doménech, Enric, Alvarez, Victoria, Gómez-Zaera, Montse, Nunes, Virginia, González, Pelayo, Corao, Ana, Coto, Eliecer

“…Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission…”
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The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain) by Reguero, Julián R, Gómez, Juan, Martín, María, Flórez, Juan P, Morís, César, Iglesias, Sara, Alonso, Belén, Alvarez, Victoria, Coto, Eliecer

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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy by Valdés-Mas, Rafael, Gutiérrez-Fernández, Ana, Gómez, Juan, Coto, Eliecer, Astudillo, Aurora, Puente, Diana A., Reguero, Julián R., Álvarez, Victoria, Morís, César, León, Diego, Martín, María, Puente, Xose S, López-Otín, Carlos

“…Mutations in different genes encoding sarcomeric proteins are responsible for 50–60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the…”
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Matrix metalloproteinase 1 promoter polymorphisms and risk of myocardial infarction: a case-control study in a Spanish population by Román-García, Pablo, Coto, Eliecer, Reguero, Julián R, Cannata-Andía, Jorge B, Lozano, Iñigo, Avanzas, Pablo, Morís, César, Rodríguez, Isabel

“…Inherited and acquired risk factors contribute to the development of the atherosclerotic lesion and its most common clinical manifestation, myocardial…”
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Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples by Gómez, Juan, Reguero, Julian R., Morís, César, Alvarez, Victoria, Coto, Eliecer

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Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients by Gómez, Juan, Lorca, Rebeca, Reguero, Julian R, Morís, César, Martín, María, Tranche, Salvador, Alonso, Belén, Iglesias, Sara, Alvarez, Victoria, Díaz-Molina, Beatriz, Avanzas, Pablo, Coto, Eliecer

“…BACKGROUND—Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the…”
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Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients by García-Castro, Mónica, Reguero, Julián R, Morís, César, Alonso-Montes, Cristina, Berrazueta, José R, Sainz, Rocío, Alvarez, Victoria, Coto, Eliecer

“…Abstract We sequenced the coding exons of the cardiac troponins T (TNNT2) and I (TNNI3) genes in 115 Spanish HCM-patients (32% with a family history of the…”
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Mutation analysis of the myocyte enhancer factor 2A gene (MEF2A) in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy by Coto, Eliecer, Castro, Mónica G., Corao, Ana I., Alonso-Montes, Cristina, Reguero, Julián R., Morís, César, Alvarez, Victoria

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Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy by Alonso-Montes, Cristina, Castro, Mónica G, Reguero, Julián R, Perrot, Andreas, Ozcelik, Cemil, Geier, Christian, Posch, Maximilian G, Morís, César, Alvarez, Victoria, Ruiz-Ortega, Marta, Coto, Eliecer

“…Mitochondrial transcription factors mtTFA, mtTFB1 and mtTFB2 are required for the replication of mitochondrial DNA (mtDNA), regulating the number of mtDNA…”
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Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients by Gómez, Juan, Reguero, Julian R, Junquera, Manuel R, Alvarez, Celso, Morís, César, Alonso, Belén, Iglesias, Sara, Coto, Eliecer

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Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort by Cuesta-Llavona, Elías, Lorca, Rebeca, Díaz-Molina, Beatriz, Lambert-Rodríguez, José L., Reguero, Julián R., Iglesias, Sara, Alonso, Belén, Junco-Vicente, Alejandro, Alonso, Vanesa, Coto, Eliecer, Gómez, Juan

“…In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a…”
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A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction by González, Pelayo, Díez-Juan, Antonio, Coto, Eliecer, Alvarez, Victoria, Reguero, Julian R, Batalla, Alberto, Andrés, Vicente

“…Excessive proliferation of vascular smooth muscle cells and leukocytes within the artery wall is a major event in the development of atherosclerosis. The…”
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Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples by Gómez, Juan, Reguero, Julian R., Morís, César, Alvarez, Victoria, Coto, Eliecer

“…DNA variants at the genes encoding cardiac channels have been associated with inherited arrhythmias and the QT interval in the general population. Next…”
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A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes by Gómez, Juan, Reguero, Julian R., Alvarez, Celso, Junquera, Manuel R., Arango, Ana, Morís, César, Coto, Eliecer

“…The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a…”
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