Výsledky vyhledávání - "Cerda, Berta De la"

Akademický článek

Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium

Autor: Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, Cerda, Berta De la, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Honisch, Sabina, Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo, Serrano, Luis, Sousa, Jose, Thee, Eric, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., Zumbansen, Markus, Acar, İlhan E., Lores-Motta, Laura, Colijn, Johanna M., Meester-Smoor, Magda A., Verzijden, Timo, Cougnard-Gregoire, Audrey, Ajana, Soufiane, Merle, Benedicte M.J., de Breuk, Anita, Heesterbeek, Thomas J., van den Akker, Erik, Daha, Mohamed R., Claes, Birte, Pauleikhoff, Daniel, Hense, Hans-Werner, van Duijn, Cornelia M., Fauser, Sascha, Hoyng, Carel B., Delcourt, Cécile, Klaver, Caroline C.W., Galesloot, Tessel E., den Hollander, Anneke I.

Publikováno v: In Ophthalmology December 2020 127(12):1693-1709

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Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

Autor: García-Delgado, Ana B., Valdés-Sánchez, María Lourdes, Morillo-Sánchez, María José, Ponte-Zuñiga, Beatriz, Díaz-Corrales, Francisco J., Cerda, Berta de la

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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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 medicine and gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd6fee62c38c505ccec6db05cced326d
https://hdl.handle.net/10668/4094

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Vectores no virales a partir de nanopartículas mesoporosas para su aplicación en terapia génica para el tratamiento de patologías degenerativas de la retina

Autor: Díaz-Corrales, Francisco J., Cerda, Berta de la, Montero-Sánchez, Adoración, Valdés-Sánchez, María Lourdes, Borrego-González, Sara, Díaz Cuenca, Aránzazu

[ES] La presente invención se encuentra dentro del campo de la nanomedicina y la terapia genética, y se refiere a sistemas que comprenden nanopartículas capaces de incorporar genes. Más concretamente, se refiere a sistemas funcionalizados con ami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1106::e86b72455cba49f0cedb95dfccb7d4b6
http://hdl.handle.net/10261/285671

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Composición biopolimérica, procedimiento para su preparación y uso de la misma

Autor: Cerda, Berta de la, Díaz-Corrales, Francisco J., García-Delgado, Ana B., Borrego-González, Sara, Díaz Cuenca, Aránzazu

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Composición biopolimérica, procedimiento para su preparación y uso de la misma. La presente invención se refiere una composición basada en biopolímeros que imita a la matriz extracelular natural del epitelio pigmentario de la retina (EPR) y que

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a846ca419ef3a0d21a7549a83e74bd2a
http://hdl.handle.net/10261/255948

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Sirt1 activators induced neuroprotection of photoreceptors in rd10 mice

Autor: Díaz-Corrales, Francisco J., Morales, Juan C., Valdés-Sánchez, María Lourdes, Lucas, Ricardo, Rodriguez-Martinez, Daniel, Peñalver, Pablo, Díez-Lloret, Andrea, Bhatia, Vaibhav, Cerda, Berta de la, Rodríguez-Bocanegra, Eduardo, Bhattacharya, Shom Shanker

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
[Purpose]: It has been reported that Sirt1 nuclear expression decreases in the outer nuclear layer (ONL) of retinal degeneration 10 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::decc1fe4c93c1dfc3475edddc0a321c5
http://hdl.handle.net/10261/163384

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Modeling AIPL1-defect using iPS-derived retinal progenitors from a patient Leber Congenital Amaurosis

Autor: Cerda, Berta de la, Díez-Lloret, Andrea, Díaz-Corrales, Francisco J., Valdés-Sánchez, María Lourdes, García-Delgado, Ana B., Rodriguez-Bocanegra, Eduardo, Bhatia, Vaibhav, Ayuso, Carmen, Bhattacharya, Shom Shanker

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Póster presentado al Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), celebrado en Seattle, Washington (US) del 1 al 5 de mayo de 2016.
Patient-derived cellular models can provide a specific tool to test new th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f0bcb5ec0f038cbc5d6147e3b0abe40d
http://hdl.handle.net/10261/165803

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Nanoparticulate systems for use in gene transfer or gene delivery

Autor: Díaz-Corrales, Francisco J., Bhattacharya, Shom Shanker, Cerda, Berta de la, Valdés-Sánchez, María Lourdes, Sánchez Barreiro, Alejandro, Seijo, Begoña, Pensado, Andrea

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname

The present invention provides a nanoparticulate system or composition which comprises nanoparticles comprising a core of a sorbitan ester, a surface layer of a cationic substance and a gene construct consisting of plasmid DNA, wherein the gene const

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c6d0c5af08b600783487d71e66d3acd
http://hdl.handle.net/10261/135542

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

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
Frontiers in Cell and Developmental Biology, 11
Frontiers in Cell and Developmental Biology, 11:1112270. Frontiers Media SA

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aec627be4588a73a848b3a7c8c360fb
https://biblio.ugent.be/publication/01GVJA0VVJHFHX3RE1AKYTKF7D/file/01GYYXP39JV4X77Y2TBM77VTMW

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