Getting closer to a pre-vertebrate genome: the non-LTR retrotransposons of Branchiostoma floridae

por Permanyer, Jon, Albalat, Ricard, Gonzàlez-Duarte, Roser
Publicado 2006

S-nitrosogluthathione reductase activity of amphioxus ADH3: insights into the nitric oxide metabolism

por Godoy, Laura, Gonzàlez-Duarte, Roser, Albalat, Ricard
Publicado 2006

The non-LTR retrotransposons in Ciona intestinalis: new insights into the evolution of chordate genomes

por Permanyer, Jon, Gonzàlez-Duarte, Roser, Albalat, Ricard
Publicado 2003

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress

por Tuson, Miquel, Garanto, Alejandro, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado 2009

The UBA-UIM Domains of the USP25 Regulate the Enzyme Ubiquitination State and Modulate Substrate Recognition

por Denuc, Amanda, Bosch-Comas, Anna, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado 2009

CERKL Knockdown Causes Retinal Degeneration in Zebrafish

por Riera, Marina, Burguera, Demian, Garcia-Fernàndez, Jordi, Gonzàlez-Duarte, Roser
Publicado 2013

CERKL, a Retinal Disease Gene, Encodes an mRNA-Binding Protein That Localizes in Compact and Untranslated mRNPs Associated with Microtubules

por Fathinajafabadi, Alihamze, Pérez-Jiménez, Eva, Riera, Marina, Knecht, Erwin, Gonzàlez-Duarte, Roser
Publicado 2014

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

por Hjelmqvist, Lars, Tuson, Miquel, Marfany, Gemma, Herrero, Enric, Balcells, Susana, Gonzàlez-Duarte, Roser
Publicado 2002

Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

por Boloc, Daniel, Castillo-Lara, Sergio, Marfany, Gemma, Gonzàlez-Duarte, Roser, Abril, Josep F.
Publicado 2015

Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25

por Valero, Rebeca, Bayés, Mònica, Francisca Sánchez-Font, M, González-Angulo, Olga, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado 2001

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

por de Castro-Miró, Marta, Pomares, Esther, Lorés-Motta, Laura, Tonda, Raul, Dopazo, Joaquín, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado 2014

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

por Valero, Rebeca, de Castro-Miró, Marta, Jiménez-Ochoa, Sofía, Rodríguez-Ezcurra, Juan José, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado 2019

RPGeNet v2.0: expanding the universe of retinal disease gene interactions network

por Arenas-Galnares, Rodrigo, Castillo-Lara, Sergio, Toulis, Vasileios, Boloc, Daniel, Gonzàlez-Duarte, Roser, Marfany, Gemma, Abril, Josep F
Publicado 2019

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

por Toulis, Vasileios, Cortés-González, Vianney, de Castro-Miró, Marta, Ferraz Sallum, Juliana, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma
Publicado 2020

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

por Villanueva-Mendoza, Cristina, Tuson, Miquel, Apam-Garduño, David, de Castro-Miró, Marta, Tonda, Raul, Trotta, Jean Remi, Marfany, Gemma, Valero, Rebeca, Cortés-González, Vianney, Gonzàlez-Duarte, Roser
Publicado 2021

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype

por 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
Publicado 2020

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

por 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
Publicado 2016

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

por Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2013