Zobrazeno 1 - 10
of 1 764
pro vyhledávání: '"RPE65"'
Autor:
Seyed Mohamadmehdi Moshtaghion, Mohammad Abolhosseini, Faraj Tabeie, Sahar Balagholi, Fatemeh Suri, Samira Karami, Houra Naraghi, Mozhgan Rezaei Kanavi, Somayeh Asadi
Publikováno v:
Journal of Ophthalmic & Vision Research, Vol 19, Iss 2, Pp 183-195 (2024)
Abstract Purpose: To investigate the short-term effects of low-level lasers (LLLs; also known as low-power laser therapy) on the structure, genetic, and phenotype of cultured human retinal pigment epithelial (hRPE) cells from both adult and neonatal
Externí odkaz:
https://doaj.org/article/b98abc27810743598b9d667ba7c0f4e7
Autor:
Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Raquel Romero, Lidia Fernández-Caballero, Pablo Mínguez, Marta Corton, Carmen Ayuso
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionLong-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular diagnosis is suspected, target enrichment can reduce the cost and duration of sequencing.MethodsLRS was conducted in five inher
Externí odkaz:
https://doaj.org/article/791cb32b50f64a6aa9f0167ca22f69a8
Autor:
Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital ama
Externí odkaz:
https://doaj.org/article/0140d53651fb47e9808b8b5d93959952
Autor:
V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya
Publikováno v:
Российский офтальмологический журнал, Vol 16, Iss 4, Pp 50-62 (2023)
Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods of 1, 3, 6, and 12 months.Material and methods. The study included 6 children (12 eyes) ag
Externí odkaz:
https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Frontiers in Medicine, Vol 10 (2024)
Leber congenital amaurosis (LCA) is the most common genetic cause of congenital visual impairment in infants and children. Patients with LCA who harbor RPE65 mutations exhibit a deficiency in photoreceptor rhodopsin, leading to severe night blindness
Externí odkaz:
https://doaj.org/article/326596c217744fc7b154b672df4f3f5b
Autor:
Giulio Poli, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi
Publikováno v:
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1 (2023)
hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear pathogenicity classification or ar
Externí odkaz:
https://doaj.org/article/7c89f3b7f8fb4854b84bd0e0b60daf9f
Autor:
Dong Hyun Jo, Hyeon-Ki Jang, Chang Sik Cho, Jun Hee Han, Gahee Ryu, Youngri Jung, Sangsu Bae, Jeong Hun Kim
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 16-27 (2023)
Leber congenital amaurosis (LCA), an inherited retinal degeneration, causes severe visual dysfunction in children and adolescents. In patients with LCA, pathogenic variants, such as RPE65, are evident in specific genes, related to the functions of re
Externí odkaz:
https://doaj.org/article/0e40f671c79f40dd9e740725b178edd1
Autor:
Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi
Publikováno v:
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 1765-1772 (2022)
The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting either its expression level or its enzymatic function are associated with inherited retinal di
Externí odkaz:
https://doaj.org/article/32ce20e5e4674bca8efb26b1a3d728b6