Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Lourdes Valdes-Sanchez"'
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:
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:
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:
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
Akademický článek
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Autor:
Lourdes Valdés-Sánchez, Sara Borrego-González, Adoración Montero-Sánchez, Simone Massalini, Berta de la Cerda, Aránzazu Díaz-Cuenca, Francisco J. Díaz-Corrales
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 8, p 2170 (2022)
Background: Gene therapy is a therapeutic possibility for retinitis pigmentosa (RP), in which therapeutic transgenes are currently delivered to the retina by adeno-associated viral vectors (AAVs). Although their safety and efficacy have been demonstr
Externí odkaz:
https://doaj.org/article/763a0d658be84ad4a5ee7604fbdfc88e
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
Publikováno v:
F1000Research, Vol 7 (2018)
Background: Photoreceptors, light-sensing neurons in retina, are central to vision. Photoreceptor cell death (PCD) is observed in most inherited and acquired retinal dystrophies. But the underlying molecular mechanism of PCD is unclear. Photoreceptor
Externí odkaz:
https://doaj.org/article/3303b9eedb7342f1a621485c3ba40557