Browsing by Author "Gómez Skarmeta, José Luis"

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  • Robert Moreno, Alexandre; Naranjo, Silvia; de la Calle Mustienes, Elisa; Gómez Skarmeta, José Luis; Alsina i Español, Berta (Public Library of Science (PLoS), 2010)
    POU3F4 is a member of the POU-homedomain transcription factor family with a prominent role in inner ear development. Mutations in the human POU3F4 coding unit leads to X-linked deafness type 3 (DFN3), characterized by ...
  • Martin, David; Guigó Serra, Roderic; Gómez Skarmeta, José Luis (Nature Research, 2011)
    Many genomic alterations associated with human diseases localize in noncoding regulatory elements located far from the promoters they regulate, making it challenging to link noncoding mutations or risk-associated variants ...
  • Naranjo, Silvia; Voesenek, Krysta; Calle Mustienes, Elisa de la; Robert Moreno, Alexandre; Kokotas, Haris; Grigoriadou, Maria; Economides, John; Van Camp, Guy; Hilgert, Nele; Moreno, Felipe; Alsina i Español, Berta; Petersen, Michael B.; Kremer, Hannie; Gómez Skarmeta, José Luis (Springer, 2010)
    POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 function are associated with X-linked deafness type 3 (DFN3). Multiple deletions affecting up to 900-kb upstream of ...
  • Sebé-Pedrós, Arnau; Ballaré, Cecilia Julia; Parra-Acero, Helena; Chiva, Cristina; Tena, Juan J.; Sabidó Aguadé, Eduard, 1981-; Gómez Skarmeta, José Luis; Di Croce, Luciano; Ruíz Trillo, Iñaki (Elsevier, 2016)
    The unicellular ancestor of animals had a complex repertoire of genes linked to multicellular processes. This suggests that changes in the regulatory genome, rather than in gene innovation, were key to the origin of animals. ...
  • Prado Martínez, Javier, 1987-; Hernando Herráez, Irene, 1985-; Lorente-Galdós, Belén, 1981-; Dabad, Marc; Ramírez, Oscar; Baeza Delgado, Carlos; Morcillo Suárez, Carlos, 1969-; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernández Callejo, Marcos; Vallès, Mònica; Ritscher, Lars; Schöneberg, Torsten; Calle Mustienes, Elisa de la; Casillas, Sònia; Rubio Acero, Raquel; Melé Messeguer, Marta, 1982-; Engelken, Johannes; Cáceres Aguilar, Mario; Gómez Skarmeta, José Luis; Gut, Marta; Bertranpetit, Jaume, 1952-; Gut, Ivo Glynne; Abelló, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2013)
    BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous ...