Now showing items 1-14 of 14

    • 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 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 ...
    • Atlas of the clinical genetics of human dilated cardiomyopathy 

      Haas, Jan; Frese, Karen S.; Peil, Barbara; Kloos, Wanda; Keller, Andreas; Nietsch, Rouven; Feng, Zhu; Müller, Sabine; Kayvanpour, Elham; Vogel, Britta; Sedaghat-Hamedani, Farbod; Lim, Wie-Keat; Zhao, Xiaohong; Fradkin, Dmitriy; Köhler, Doreen; Fischer, Simon; Franke, Jennifer; Marquart, Sabine; Barb, Ioana; Li, Daniel Tian; Amr, Ali; Ehlermann, Philipp; Mereles, Derliz; Weis, Tanja; Hassel, Sarah; Kremer, Andreas; King, Vanessa; Wirsz, Emil; Isnard, Richard; Komajda, Michel; Serio, Alessandra; Grasso, Maurizia; Syrris, Petros; Wicks, Eleanor; Plagnol, Vincent; Lopes, Luis; Gadgaard, Tenna; Eiskjaer, Hans; Jorgensen, Mads; García-Giustiniani, Diego; Ortiz-Genga, Martín; Crespo-Leiro, María Generosa; Deprez, Rondal H. Lekanne Dit; Christiaans, Imke; Rijsingen, Ingrid A. van; Wilde, Arthur A.; Waldenstrom, Anders; Bolognesi, Martino; Bellazzi, Riccardo; Mörner, Stellan; Lorenzo Bermejo, Justo; Monserrat, Lorenzo; Villard, Eric; Mogensen, Jens; Pinto, Yigal M.; Charron, Philippe; Elliott, Perry; Arbustini, Eloisa; Katus, Hugo A.; Meder, Benjamin (Oxford para European Society of Cardiology, 2014-08-27)
      [Abstract] Aim. Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM ...
    • Effect of Age on Pro-Inflammatory miRNAs Contained in Mesenchymal Stem Cell-Derived Extracellular Vesicles 

      Fafián Labora, Juan Antonio; Lesende-Rodríguez, Iván; Fernández-Pernas, Pablo; Sangiao-Alvarellos, Susana; Monserrat, Lorenzo; Arntz, O.J.; Van de Loo, F.J.; Mateos, Jesús; Arufe, M.C. (Nature, 2017-03-06)
      [Abstract] Stem cells possess significant age-dependent differences in their immune-response profile. These differences were analysed by Next-Generation Sequencing of six age groups from bone marrow mesenchymal stem cells. ...
    • Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations 

      Hermida-Prieto, Manuel; Monserrat, Lorenzo; Castro-Beiras, Alfonso; Laredo, Rafael; Soler Fernández, Rafaela; Peteiro-Vázquez, Jesús; Rodríguez, Esther; Bouzas-Zubeldia, Beatriz; Álvarez-García, Nemesio; Muñiz, Javier; Crespo-Leiro, María Generosa (Elsevier, 2004-06-23)
      [Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial ...
    • 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. ...
    • Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford Progeria Syndrome-Derived Cells Point to a Role of Nucleotide Metabolism in Premature Aging 

      Mateos, Jesús; Fafián Labora, Juan Antonio; Morente-López, Miriam; Lesende-Rodríguez, Iván; Monserrat, Lorenzo; Ódena, María A.; Oliveira, Eliandre de; De-Toro, Javier; Arufe, M.C. (PLOS, 2018-10-31)
      [Abstract] Hutchinson-Gilford progeria syndrome (HGPS) is a very rare fatal disease characterized for accelerated aging. Although the causal agent, a point mutation in LMNA gene, was identified more than a decade ago, the ...
    • Prognostic Implications of Pathogenic Truncating Variants in the TTN Gene 

      Peña-Peña, Maria Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mediguchia, Joel; Lamounier, Arsonval; Trujillo-Quintero, Juan Pablo; García-Giustiniani, Diego; Fernández, Xusto; Ortiz-Genga, Martín; Monserrat, Lorenzo; Crespo-Leiro, María Generosa (Elsevier, 2020-05-01)
      [Abstract] Introduction and objectives: TTN gene truncating variants (TTNtv) are a frequent cause of dilated cardiomyopathy (DCM). However, there are discrepant data on the associated prognosis. Our objectives were to ...
    • Prognostic Implications of Troponin T Variations in Inherited Cardiomyopathies Using Systems Biology 

      Shakur, Rameen; Ochoa Folmer, Juan Pablo; Robinson, Alan J.; Niroula, Abhishek; Chandran, Aneesh; Rahman, Taufiq; Vihinen, Mauno; Monserrat, Lorenzo (Nature, 2021-06-14)
      [Abstract] The cardiac troponin T variations have often been used as an example of the application of clinical genotyping for prognostication and risk stratification measures for the management of patients with a family ...
    • Prognostic Value of Treadmill Exercise Echocardiography 

      Peteiro-Vázquez, Jesús; Monserrat, Lorenzo; Mariñas-Dávila, Javier; Garrido, Iris P.; Bouzas-Caamaño, María; Muñiz, Javier; Bouzas-Mosquera, Alberto; Bouzas-Zubeldia, Beatriz; Álvarez-García, Nemesio; Castro-Beiras, Alfonso (Elsevier, 2005)
      [Abstract] Introduction and objectives. Exercise echocardiography (EE) is useful for diagnosing coronary disease, but little is known about its value for risk stratification. We aimed to determine: a) whether data from EE ...
    • Protein Haploinsufficiency Drivers Identify MYBPC3 Variants That Cause Hypertrophic Cardiomyopathy 

      Suay-Corredera, Carmen; Pricolo, María Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano, Luis; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021-06-05)
      [Abstract] Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the ...
    • Risk Predictors in a Spanish Cohort With Cardiac Laminopathies. The REDLAMINA Registry 

      Barriales-Villa, Roberto; Ochoa, Juan Pablo; Larrañaga-Moreira, Jose Maria; Salazar-Mediguchia, Joel; Díez-López, Carles; Restrepo-Córdoba, María Alejandra; Álvarez-Rubio, Jorge; Robles-Mezcua, Ainhoa; Olmo-Conesa, María C.; Nicolás-Rocamora, Elisa; Sanz, Jorge; Villacorta, Eduardo; Gallego-Delgado, María; Yotti, Raquel; Espinosa, María Ángeles; Manovel, Ana; Rincón-Díaz, Luis M.; Jiménez-Jaimez, Juan; Bermúdez-Jiménez, Francisco J.; Basurte-Elorz, M. Teresa; Climent-Payá, Vicente; García-Álvarez, María I.; Rodríguez-Palomares, José Fernando; Limeres-Freire, Javier; Pérez-Guerrero, Ainhoa; Cantero-Pérez, Eva M.; Peña-Peña, Maria Luisa; Palomino-Doza, Julián; Crespo-Leiro, María Generosa; García-Pinilla, José Manuel; Zorio, Esther; Ripoll-Vera, Tomás; García-Pavía, Pablo; Ortiz-Genga, Martín; Monserrat, Lorenzo (Elsevier, 2020-06-29)
      [Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ...
    • Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients With Hypertrophic Cardiomyopathy 

      Rodríguez García, María Isabel; Monserrat, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel (BioMed Central, 2010)
      [Abstract] Background. MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease ...
    • Significado pronóstico de la presencia de taquicardia ventricular no sostenida y de sus características en pacientes con miocardiopatía hipertrófica 

      Monserrat, Lorenzo (2002)
      [Resumen] INTRODUCCIÓN Y OBJETIVOS En los años 80, McKenna y cols y Maron y cols., describierón la asociación entre presencia de taquicardia ventricular no sostenida (TVNS) en el Holter y riesgo de muerte súbita en ...