Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Berta de la Cerda"'
Autor:
Seyed Mohamadmehdi Moshtaghion, Estefanía Caballano-Infantes, Álvaro Plaza Reyes, Lourdes Valdés-Sánchez, Patricia Gallego Fernández, Berta de la Cerda, Maurizio S. Riga, Manuel Álvarez-Dolado, Pablo Peñalver, Juan C. Morales, Francisco J. Díaz-Corrales
Publikováno v:
Antioxidants, Vol 13, Iss 2, p 201 (2024)
Retinitis pigmentosa is a common cause of inherited blindness in adults, which in many cases is associated with an increase in the formation of reactive oxygen species (ROS) that induces DNA damage, triggering Poly-ADP-Ribose Polymerase 1 (PARP1) act
Externí odkaz:
https://doaj.org/article/edd406b8fcc644a99e996f35b09a5e1e
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Lorena Buono, Jorge Corbacho, Silvia Naranjo, María Almuedo-Castillo, Tania Moreno-Marmol, Berta de la Cerda, Estefanía Sanbria-Reinoso, Rocío Polvillo, Francisco-Javier Díaz-Corrales, Ozren Bogdanovic, Paola Bovolenta, Juan-Ramón Martínez-Morales
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
The gene regulatory network controlling the bifurcation of common progenitors into the neural retina and retinal-pigmented epithelium programs remains poorly understood. Here the authors study transcriptome dynamics and chromatin accessibility during
Externí odkaz:
https://doaj.org/article/9deb9ca050074c8e90fd83b3d7611510
Autor:
Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicin
Externí odkaz:
https://doaj.org/article/e7abdf515c274b4ab1d3a471f239b1f2
Autor:
Lourdes Valdés-Sánchez, Sofia M. Calado, Berta de la Cerda, Ana Aramburu, Ana Belén García-Delgado, Simone Massalini, Adoración Montero-Sánchez, Vaibhav Bhatia, Eduardo Rodríguez-Bocanegra, Andrea Diez-Lloret, Daniel Rodríguez-Martínez, Christina Chakarova, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Molecular Medicine, Vol 26, Iss 1, Pp 1-22 (2019)
Abstract Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of
Externí odkaz:
https://doaj.org/article/4203642594924275af0ef4649cdbe192
Autor:
Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102301- (2021)
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of th
Externí odkaz:
https://doaj.org/article/bb3cd6f55a7e4e52a4ca31bad6728f13
Autor:
Sofia M. Calado, Ana B. Garcia-Delgado, Berta De la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 251-254 (2018)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a h
Externí odkaz:
https://doaj.org/article/9340379e151f4186b0f2dfce0b98d223
Autor:
Jesús David Urbano-Gámez, Lourdes Valdés-Sánchez, Carmen Aracil, Berta de la Cerda, Francisco Perdigones, Álvaro Plaza Reyes, Francisco J. Díaz-Corrales, Isabel Relimpio López, José Manuel Quero
Publikováno v:
Micromachines, Vol 12, Iss 12, p 1469 (2021)
Printed circuit board (PCB) technology is well known, reliable, and low-cost, and its application to biomedicine, which implies the integration of microfluidics and electronics, has led to Lab-on-PCB. However, the biocompatibility of the involved mat
Externí odkaz:
https://doaj.org/article/7ad4c8c9c0064fedaa744f5687ecb27a
Autor:
Lorena Buono, Jorge Corbacho, Silvia Naranjo, María Almuedo-Castillo, Tania Moreno-Marmol, Berta de la Cerda, Estefanía Sanabria-Reinoso, Rocío Polvillo, Francisco-Javier Díaz-Corrales, Ozren Bogdanovic, Paola Bovolenta, Juan-Ramón Martínez-Morales
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/95988be152c34153a87979c85aeedae1
Autor:
Ana B. Garcia-Delgado, Sofia M. Calado, Lourdes M. Valdes-Sanchez, Adoracion Montero-Sanchez, Beatriz Ponte-Zuñiga, Berta de la Cerda, Shom Shanker Bhattacharya, Francisco J. Diaz-Corrales
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line
Externí odkaz:
https://doaj.org/article/25701f14c20e4f0997f383d28d1405be