Browsing Ciències de la Salut by Author "Hernández, Gonzalo"

Now showing items 1-5 of 5

    • Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 

      Hernández, Gonzalo; Ramírez, María José; Minguillón, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza-Carmona, Miriam; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario; Fernández, Juana; García, Nadia; López, Adrià; Gutiérrez-Enríquez, Sara; Diez, Orland; Benítez, Javier; Salinas, Mónica; Teulé, Alex; Brunet, Joan; Radice, Paolo; Peterlongo, Paolo; Schindler, Detlev; Huertas, Pablo; Puente, Xose S.; Lázaro, Conxi; Pujana, Miquel Àngel; Surrallés, Jordi (Nature Communications, 2018)
      BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors ...

    • Exploring the link between MORF4L1 and risk of breast cancer 

      Martrat, Griselda; Maxwell, Christopher A.; Tominaga, Emiko; Porta-de-la-Riva, Montserrat; Bonifaci, Núria; Gómez-Baldó, Laia; Bogliolo, Massimo; Lázaro, Conxi; Blanco, Ignacio; Brunet, Joan; Aguilar, Helena; Fernández-Rodríguez, Juana; Seal, Sheila; Renwick, Anthony; Rahman, Nazneen; Kühl, Julia; Neveling, Kornelia; Schindler, Detlev; Ramírez, María J.; Castellà, María; Hernández, Gonzalo; EMBRACE; Easton, Douglas F.; Peock, Susan; Cook, Margaret; Oliver, Clare T.; Frost, Debra; Platte, Radka; Evans, D. Gareth; Lalloo, Fiona; Eeles, Rosalind; Izatt, Louise; Chu, Carol; Davidson, Rosemarie; Ong, Kai-Ren; Cook, Jackie; Douglas, Fiona; Hodgson, Shirley; Brewer, Carole; Morrison, Patrick J.; Porteous, Mary; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Roversi, Gaia; Barile, Monica; Viel, Alessandra; Pasini, Barbara; Ottini, Laura; Putignano, Anna Laura; Savarese, Antonella; Bernard, Loris; Radice, Paolo; Healey, Sue; Spurdle, Amanda; Chen, Xiaoqing; Beesley, Jonathan; kConFab; Rookus, Matti A.; Verhoef, Senno; Tilanus-Linthorst, Madeleine A.; Vreeswijk, Maaike P.; Asperen, Christi J.; Bodmer, Danielle; Ausems, Margreet GEM; Van Os, Theo A.; Blok, Marinus J.; Meijers-Heijboer, Hanne EJ; Hogervorst, Frans BL; HEBON; Goldgar, David E.; Buys, Saundra; John, Esther M.; Miron, Alexander; Southey, Melissa; Daly, Mary B.; BCFR; SWE-BRCA; Harbst, Katja; Borg, Åke; Rantala, Johanna; Barbany-Bustinza, Gisela; Ehrencrona, Hans; Stenmark-Askmalm, Marie; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Friedman, Eitan; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Johannsson, Oskar Thor; Couch, Fergus J.; Wang, Xianshu; Fredericksen, Zachary; Cuadras, Daniel; Moreno, Víctor; Pientka, Friederike K.; Depping, Reinhard; Caldés, Trinidad; Osorio, Ana; Benítez, Javier; Bueren, Juan; Heikkinen, Tuomas; Nevanlinna, Heli; Hamann, Ute; Torres, Diana; Caligo, Maria Adelaide; Godwin, Andrew K.; Imyanitov, Evgeny N.; Janavicius, Ramunas; GEMO Study Collaborators; Sinilnikova, Olga M.; Stoppa-Lyonnet, Dominique; Mazoyer, Sylvie; Verny-Pierre, Carole; Castera, Laurent; De Pauw, Antoine; Bignon, Yves-Jean; Uhrhammer, Nancy; Peyrat, Jean-Philippe; Vennin, Philippe; Fert Ferrer, Sandra; Collonge-Rame, Marie-Agnès; Mortemousque, Isabelle; McGuffog, Lesley; Chenevix-Trench, Georgia; Pereira-Smith, Olivia M.; Antoniou, Antonis C.; Cerón, Julián; Tominaga, Kaoru; Surrallés, Jordi; Pujana, Miguel Angel (Breast Cancer Research, 2011)
      Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway ...

    • Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III 

      Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; Pérez De Soto, Concepción; Morales-Camacho, Rosario M.; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A.; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka (Haematologica, 2023)
      Congenital dyserythropoietic anemia type III (CDA III) is one of the rarest types of CDA. The autosomal dominant form of CDA III, is due to mono-allelic mutations in the KIF23 gene (MIM:105600); two ...

    • New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II 

      Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia; Romero-Cortadellas, Lídia; Hernández, Gonzalo; Leoz, Pilar; Ricard Andrés, María Pilar; Morado, Marta; Fernández Valle, María del Carmen; Beneitez Pastor, David; Ortuño Cabrero, Ana; Moreno Gamiz, Maite; Senent Peris, Leonor; Perez-Valencia, Amanda Isabel; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka (International Journal of Molecular Sciences, 2023)
      Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by ...

    • New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis 

      Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Floor Pilquil, Martin; Muñoz Torres, Pau Marc; Hernandez Rodríguez, Ines; Ruiz Mínguez, Maria Àngels; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Plensa Alberca, Esther; Gener Ricós, Georgina; Cañamero Giró, Eloi; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka (Genes, 2021)
      Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...