TRF1 averts chromatin remodelling, recombination and replication dependent-break induced replication at mouse telomeres
Porreca, Rosa Maria, Herrera-Moyano, Emilia, Skourti, Eleni, Law, Pui Pik, Gonzalez Franco, Roser, Montoya, Alex, Faull, Peter, Kramer, Holger, Vannier, Jean-Baptiste
Published in eLife (14.01.2020)
Published in eLife (14.01.2020)
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Journal Article
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative
Persson, Bengt, Kallberg, Yvonne, Bray, James E., Bruford, Elspeth, Dellaporta, Stephen L., Favia, Angelo D., Duarte, Roser Gonzalez, Jörnvall, Hans, Kavanagh, Kathryn L., Kedishvili, Natalia, Kisiela, Michael, Maser, Edmund, Mindnich, Rebekka, Orchard, Sandra, Penning, Trevor M., Thornton, Janet M., Adamski, Jerzy, Oppermann, Udo
Published in Chemico-biological interactions (16.03.2009)
Published in Chemico-biological interactions (16.03.2009)
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Journal Article
A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype
Domènech, Elena B, Andrés, Rosa, López-Iniesta, M José, Mirra, Serena, García-Arroyo, Rocío, Milla, Santiago, Sava, Florentina, Andilla, Jordi, Loza-Álvarez, Pablo, de la Villa, Pedro, Gonzàlez-Duarte, Roser, Marfany, Gemma
Published in Investigative ophthalmology & visual science (01.07.2020)
Published in Investigative ophthalmology & visual science (01.07.2020)
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Journal Article
Patient characteristics and health care burden during the influenza A (H1N1) 2009 pandemic in the university Hospital Vall d'Hebron of Barcelona
González, Roser, Balasso, Valentina, Uriona, Sonia, Rodrigo, José Ángel, Vaqué, Josep, Campins, Magda, Tórtola, M Teresa, Cebrián, Rocío, Jiménez, Javier, Figueras, Concepció, Almirante, Benito, Pérez-Hoyos, Santiago
Published in Enfermedades infecciosas y microbiologia clinica (01.10.2011)
Published in Enfermedades infecciosas y microbiologia clinica (01.10.2011)
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
de Castro-Miró, Marta, Tonda, Raul, Escudero-Ferruz, Paula, Andrés, Rosa, Mayor-Lorenzo, Andrés, Castro, Joaquín, Ciccioli, Marcela, Hidalgo, Daniel A, Rodríguez-Ezcurra, Juan José, Farrando, Jorge, Pérez-Santonja, Juan J, Cormand, Bru, Marfany, Gemma, Gonzàlez-Duarte, Roser
Published in PloS one (22.12.2016)
Published in PloS one (22.12.2016)
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Journal Article
CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules
Fathinajafabadi, Alihamze, Pérez-Jiménez, Eva, Riera, Marina, Knecht, Erwin, Gonzàlez-Duarte, Roser
Published in PloS one (03.02.2014)
Published in PloS one (03.02.2014)
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Journal Article
The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition
Denuc, Amanda, Bosch-Comas, Anna, Gonzàlez-Duarte, Roser, Marfany, Gemma
Published in PloS one (15.05.2009)
Published in PloS one (15.05.2009)
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Journal Article
CERKL knockdown causes retinal degeneration in zebrafish
Riera, Marina, Burguera, Demian, Garcia-Fernàndez, Jordi, Gonzàlez-Duarte, Roser
Published in PloS one (09.05.2013)
Published in PloS one (09.05.2013)
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Journal Article
Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
Garanto, Alejandro, Mandal, Nawajes A., Egido-Gabás, Meritxell, Marfany, Gemma, Fabriàs, Gemma, Anderson, Robert E., Casas, Josefina, Gonzàlez-Duarte, Roser
Published in Experimental eye research (01.05.2013)
Published in Experimental eye research (01.05.2013)
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Journal Article
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families
Pomares, Esther, Burés-Jelstrup, Anniken, Ruiz-Nogales, Sheila, Corcóstegui, Borja, González-Duarte, Roser, Navarro, Rafael
Published in Investigative ophthalmology & visual science (31.01.2012)
Published in Investigative ophthalmology & visual science (31.01.2012)
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Journal Article
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
Valero, Rebeca, de Castro-Miró, Marta, Jiménez-Ochoa, Sofía, Rodríguez-Ezcurra, Juan José, Marfany, Gemma, Gonzàlez-Duarte, Roser
Published in Genes (21.09.2019)
Published in Genes (21.09.2019)
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Journal Article
Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling
Bolinches-Amorós, Arantxa, León, Marian, del Buey Furió, Verónica, Marfany, Gemma, Gonzàlez-Duarte, Roser, Erceg, Slaven, Lukovic, Dunja
Published in Stem cell research (01.07.2019)
Published in Stem cell research (01.07.2019)
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Journal Article
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants
Toulis, Vasileios, Cortés-González, Vianney, Castro-Miró, Marta de, Sallum, Juliana Ferraz, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma
Published in Genes (31.03.2020)
Published in Genes (31.03.2020)
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Journal Article
Is retinoic acid genetic machinery a chordate innovation?
Cañestro, Cristian, Postlethwait, John H., Gonzàlez-Duarte, Roser, Albalat, Ricard
Published in Evolution & development (01.09.2006)
Published in Evolution & development (01.09.2006)
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