Zobrazeno 1 - 10
of 46
pro vyhledávání: '"C. Henrique Alves"'
Autor:
Nuno Gouveia, Oluji Chukwunalu, Carolina Oliveira, C. Henrique Alves, Rufino Silva, Joaquim Murta, João Pedro Marques
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and
Externí odkaz:
https://doaj.org/article/dfaeb4784cab4498b3215af36880512d
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 423-441 (2021)
Loss of Crumbs homolog 1 (CRB1) or CRB2 proteins in Müller cells or photoreceptors in the mouse retina results in a CRB dose-dependent retinal phenotype. In this study, we present a novel Müller cell-specific Crb1KOCrb2LowMGC retinitis pigmentosa m
Externí odkaz:
https://doaj.org/article/92125ad52ed342d5822ed1326ca5c48a
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-20 (2020)
Abstract Mutations in the PTEN-induced kinase 1 (PINK1) and Parkin RBR E3 ubiquitin-protein ligase (PARKIN) genes are associated with familial forms of Parkinson’s disease (PD). PINK1, a protein kinase, and PARKIN, an E3 ubiquitin ligase, control t
Externí odkaz:
https://doaj.org/article/70c888ef25234b0f89e96f6c466f8d09
Autor:
Peter M. Quinn, Thilo M. Buck, Aat A. Mulder, Charlotte Ohonin, C. Henrique Alves, Rogier M. Vos, Monika Bialecka, Tessa van Herwaarden, Elon H.C. van Dijk, Mays Talib, Christian Freund, Harald M.M. Mikkers, Rob C. Hoeben, Marie-José Goumans, Camiel J.F. Boon, Abraham J. Koster, Susana M. Chuva de Sousa Lopes, Carolina R. Jost, Jan Wijnholds
Publikováno v:
Stem Cell Reports, Vol 12, Iss 5, Pp 906-919 (2019)
Summary: Human retinal organoids from induced pluripotent stem cells (hiPSCs) can be used to confirm the localization of proteins in retinal cell types and to test transduction and expression patterns of gene therapy vectors. Here, we compared the on
Externí odkaz:
https://doaj.org/article/67c05bc391cb49d7ae515f5b1d33c590
Autor:
Nanda Boon, C. Henrique Alves, Aat A. Mulder, Charlotte A. Andriessen, Thilo M. Buck, Peter M. J. Quinn, Rogier M. Vos, Abraham J. Koster, Carolina R. Jost, Jan Wijnholds
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7, p 3563 (2021)
Mutations in the Crumbs homologue 1 (CRB1) gene cause inherited retinal dystrophies, such as early-onset retinitis pigmentosa and Leber congenital amaurosis. A Brown Norway rat strain was reported with a spontaneous insertion-deletion (indel) mutatio
Externí odkaz:
https://doaj.org/article/19cb45c2cd354af3848af7cf84caed6e
Publikováno v:
Cells, Vol 9, Iss 5, p 1217 (2020)
The retina is a highly metabolically active tissue with high-level consumption of nutrients and oxygen. This high metabolic demand requires a properly developed and maintained vascular system. The retina is nourished by two systems: the central retin
Externí odkaz:
https://doaj.org/article/d405b4e2cc564f8ba87b913599bb3776
Autor:
C. Henrique Alves, Nanda Boon, Aat A. Mulder, Abraham J. Koster, Carolina R. Jost, Jan Wijnholds
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 17, p 4069 (2019)
Variations in the Crumbs homolog-1 (CRB1) gene are associated with a wide variety of autosomal recessive retinal dystrophies, including early onset retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). CRB1 belongs to the Crumbs family, whi
Externí odkaz:
https://doaj.org/article/d436a78b1b844b1885001827a7d652a9
Autor:
João Pedro Marques, Ricardo Machado Soares, Sílvia Simão, Rebhi Abuzaitoun, Chris Andrews, C. Henrique Alves, António Francisco Ambrósio, Joaquim Murta, Rufino Silva, Maria Fernanda Abalem, K. Thiran Jayasundera
Publikováno v:
Ophthalmic Genetics. :1-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6322268154bdc3730e56a41f26787da
https://doi.org/10.1080/13816810.2023.2191708
https://doi.org/10.1080/13816810.2023.2191708
Autor:
Ricardo Machado Soares, Ana Luísa Carvalho, Sílvia Simão, Célia Azevedo Soares, Miguel Raimundo, C Henrique Alves, António Francisco Ambrósio, Joaquim Murta, Jorge Saraiva, Rufino Silva, João Pedro Marques
Publikováno v:
Ophthalmology Retina.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d09a4467809d15fd172071b6c2b33ec
https://doi.org/10.1016/j.oret.2023.02.001
https://doi.org/10.1016/j.oret.2023.02.001
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