Repositorio Dspace

Listar03. IMIB (Instituto Murciano de Investigación Biosanitaria Pascual Parrilla) por tema "Mutation"

Listar03. IMIB (Instituto Murciano de Investigación Biosanitaria Pascual Parrilla) por tema "Mutation"

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  • Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype 
    Hall, Charlotte-L; Akhtar, Mohammed-M; Sabater-Molina, María; Futema, Marta; Asimaki, Ángeliki; ProtonotaRíos, Alexandros; Dalageorgou, Chrysoula; Pittman, Alan-M; Paz-Suárez, Mari; Aguilera, Beatriz; Molina, Pilar; Zorio, Esther; Hernández, Juan-Pedro; Pastor, Francisco; Gimeno, Juan-R; Syrris, Petros; McKenna, William-J (ELSEVIER IRELAND LTD, 2020-05-15)
    BACKGROUND: Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic ...
  • Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect 
    Weronska, Anna; de-la-Morena-Barrio, Belen; Goldman-Mazur, Sarah; de-la-Morena-Barrio, Maria-Eugenia; Padilla, José; Miñano, Antonia; Garrido-Rodriguez, Pedro; Treli?ski, Jacek; Potaczek, Daniel-Piotr; Szczepanek, Anita; Undas, Anetta; Corral, Javier; Wypasek, Ewa (Ferrata Storti Foundation, 2023)
  • Landscape of biallelic DNMT3A mutant myeloid neoplasms 
    Kawashima, Naomi; Kubota, Yasuo; Bravo-Perez, Carlos; Guarnera, Luca; Williams, Nakisha-D; Durmaz, Arda; Witt, Michaela; Ahmed, Arooj; Gurnari, Carmelo; Maciejewski, Jaroslaw-P; Visconte, Valeria (BioMed Central Ltd, 2024)
    DNA methyltransferase 3 A mutations (DNMT3A(MT)) are frequent in myeloid neoplasia (MN) and mostly heterozygous. However, cases with multiple DNMT3A(MT) can be also encountered but their clinical and genetic landscape ...
  • Multilayer intraclonal heterogeneity in chronic myelomonocytic leukemia 
    Beke, Allan; Laplane, Lucie; Riviere, Julie; Yang, Qin; Torres-Martín, Miguel; Dayris, Thibault; Rameau, Philippe; Saada, Veronique; Bilhou-Nabera, Chrystele; Hurtado, Ana; Lordier, Larissa; Vainchenker, William; Figueroa, María-E; Droin, Nathalie; Solary, Eric (FERRATA STORTI FOUNDATION, 2020-01-01)
    The functional diversity of cells that compose myeloid malignancies, i.e., the respective roles of genetic and epigenetic heterogeneity in this diversity, remains poorly understood. This question is addressed in chronic ...
  • New SERPINC1 gene mutations in patients with antithrombin deficiency: Antithrombin Lodz I, II, III, and IV 
    Nowak, Weronika; Trelinski, Jacek; Wypasek, Ewa; De-la-Morena-Barrio, Belén; De-la-Morena-Barrio, María-Eugenia; Corral, Javier (Medycyna Praktyczna Cholerzyn, 2022)
  • RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy 
    Hall, Charlotte-L; Gurha, Priyatansh; Sabater-Molina, María; Asimaki, Ángeliki; Futema, Marta; Lovering, Ruth-C; Paz-Suárez, Mari; Aguilera, Beatriz; Molina, Pilar; Zorio, Esther; Coarfa, Cristian; Robertson, Matthew-J; Cheedipudi, Sirisha-M; Ng, Keat-eng; Delaney, Paul; Hernández, Juan-Pedro; Pastor, Francisco; Gimeno, Juan-R; McKenna, William-J; Marian, Ali-J; Syrris, Petros (ELSEVIER IRELAND LTD, 2020-03-01)
    Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of ...
  • The genetic landscape of mitochondrial diseases in spain: A nationwide call 
    Bellusci, Marcello; Paredes-Fuentes, Abraham-J; Ruiz-Pesini, Eduardo; Gómez, Beatriz; Martín, Miguel-A; Montoya, Julio; Artuch, Rafael; Ribes, Antonia; Tort, Frederic; Garcia-Villoria, Judith; Pajares, Sonia; Muñoz-Pujol, Gerard; Gort, Laura; Ugarteburu, Olatz; Valls-Roca, Laura; Cantó-Santos, Judith; García-García, Josep; Tobías, Esther; Deudero, Aida; Moreno, Pedro-Juan; Milisenda, José-César; Garrabou, Glòria; Grau, Josep-Maria; Cardellach, Francesc; Del-Castillo, Ignacio; Morín-Rodríguez, Matías; Domínguez-Ruiz, Maria; Moreno-Pelayo, Miguel-Angel; Ayuso, Carmen; Villaverde-Montero, Cristina; Avila-Fernandez, Almudena; Lorda-Sánchez, Isabel; Swafiri, Saoud; Rodriguez-Pombo, Pilar; Perez, Belén; Navarrete, Rosa; López-Gallardo, Ester; Emperador, Sonia; Pacheu-Grau, David; Bayona-Bafaluy, M-Pilar; Arenas, Joaquín; Blázquez, Alberto; Domínguez-González, Cristina; Morales-Conejo, Montserrat; García-Silva, María-T; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Camacho-Salas, Ana; Nuñez-Enamorado, Noemí; Martínez-Azorín, Francisco; Garcia-Campos, Oscar; Navas, Plácido; Santos-Ocaña, Carlos; Schlüter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Oancea-Ionescu, Raluca; Horga, Alejandro; Galán, Lucía; Guerrero, Antonio; Fenollar-Cortés, María; Cotarelo-Pérez, Carmen; Herrero-Forte, Clara; Gómez-Serrano, Manuel; Ley-Martos, Myriam; Gutiérrez-Moro, Carmen; Lubián-Gutiérrez, Manuel; Aguilera-Albesa, Sergio; Jericó-Pascual, Ivonne; Aznal-Sainz, Elena; Gil-Campos, Mercedes; Lopez-Laso, Eduardo; Fuentes-Pita, Patricia; Couce, Maria-L; Esteban-Cardeñosa, Eva; Caamaño, Pilar; Cadiñanos, Juan; Diñeiro, Marta; Palacin-Larroy, Marta; Espejo-López, Francisco; Fernández-Burriel, Miguel; Muñoz-Cabello, Beatriz; Zúñiga, Angel; Vitoria, Isidro; Martínez, Francisco; Millán, José-M; Correcher, Patricia; Muelas, Nuria; Vilchez, Juan-J; Sevilla, Teresa; Tomas-Vila, Miquel; Orellana, Carmen; Nieves-Moreno, Maria; Noval, Susana; Vallespin, Elena; Campos-Barros, Angel; Ceán-Cabrera, Lourdes; Ibáñez-Micó, Salvador; Guillén-Navarro, Encarna; López-González, Vanesa; Ballesta-Martínez, Juliana; Marcos-Toledano, Maria-M; Cortès-Saladelafont, Elisenda; Giménez-Muñoz, Alvaro; Yubero, Delia; Nascimento, A; García-Cazorla, Angels; O'Callaghan, Maria-del-Mar; Dario-Ortigoza, Juan-D; Montero, Raquel; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Palau, Francesc; Pineda, Merce; Yahyaoui, Raquel; Benito, Carmen; Vázquez-López, María; Barredo-Valderrama, Estíbaliz; Bernardino-Cuesta, Beatriz; González-Gutiérrez-Solana, Luis; Moris, Germán; Almeida-Velasco, Javier; Lopez-de-Heredia, Miguel; Segovia, Sonia; Pla-Junca, Francesc; Urreizti, Roser; Díaz-de-Bustamante, Aranzazu; Darnaude, M-Teresa; Garcia-Arumi, Elena; Marti, Ramón; Rovira-Moreno, Eulàlia; Juntas-Morales, Raúl; Del-Toro, Mireia; Pérez-Dueñas, Belén; Munell, Francina; De-las-Heras, Javier; Ceberio-Hualde, Leticia; Unceta-Suárez, María; Marti, Itxaso; Fernandez-Marmiesse, Ana; Medina-Martinez, Inmaculada; García-García, Jorge; León-Hernández, Juan-Carlos; Ruiz-Gómez, Angeles; De-Azua-Brea, Begoña; Olivé, Monstse; Diaz-Manera, Jordi; Gallardo, Eduard (Multidisciplinary Digital Publishing Institute (MDPI), 2021)
    The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain ...

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