• POT1 and damage response malfunction trigger acquisition of somatic activating mutations in the VEGF pathway in cardiac angiosarcomas 

      Calvete, Oriol; García-Pavía, Pablo; Domínguez, Fernando; Mosteiro, Lluc; Pérez-Cabornero, Lucía; Cantalapiedra, Diego; Zorio, Esther; Ramón y Cajal, Teresa; Crespo-Leiro, María Generosa; Teulé, Álex; Lázaro, Conxi; Morente, Manuel; Urioste, Miguel; Benitez, Javier (American Heart Association, 2019-09-17)
      [Abstract] Background Mutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poorly ...
    • 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 ...