Zobrazeno 1 - 10
of 1 624
pro vyhledávání: '"ABCA4"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. This
Externí odkaz:
https://doaj.org/article/1ff69c2958304f9ea0240d94ec2e8d7d
Autor:
Yasmine A. Zaydon, Stephen H. Tsang
Publikováno v:
Cell & Bioscience, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Stargardt disease (STGD) is the most common form of inherited juvenile macular dystrophy and is caused by sequence variants in the ABCA4 gene. Due to its genetic complexity and phenotypic variability, STGD poses significant therapeutic chall
Externí odkaz:
https://doaj.org/article/d42470cf19ee4bb980e5c375b24ec0b2
Autor:
Chinnavuth Vatanashevanopakorn, Rungtip Soi-ampornkul, Natapat Chaisidhivej, Asavarak Sompohnmanas, Dhanach Dhirachaikulpanich, Nutnicha Tantarungsee, Saranporn Piampradad, Supalert Prakhunhungsit, Nopasak Phasukkijwatana
Publikováno v:
Siriraj Medical Journal, Vol 76, Iss 10 (2024)
Objective: To study the mutational spectrum of the ABCA4 gene in Thai patients with Stargardt disease. Materials and Methods: DNA sequencing of all 50 exons of the ABCA4 gene was performed in nine Thai patients with clinically diagnosed Stargardt d
Externí odkaz:
https://doaj.org/article/544ab66061754c3689fd61c1414c2c04
Autor:
Irene Vázquez-Domínguez, Mert Öktem, Florian A. Winkelaar, Thai Hoang Nguyen, Anita D.M. Hoogendoorn, Eleonora Roschi, Galuh D.N. Astuti, Raoul Timmermans, Nuria Suárez-Herrera, Ilaria Bruno, Albert Ruiz-Llombart, Joseph Brealey, Olivier G. de Jong, Rob W.J. Collin, Enrico Mastrobattista, Alejandro Garanto
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102345- (2024)
Deep-intronic (DI) variants represent approximately 10%–12% of disease-causing genetic defects in ABCA4-associated Stargardt disease (STGD1). Although many of these DI variants are amenable to antisense oligonucleotide-based splicing-modulation the
Externí odkaz:
https://doaj.org/article/9cd8756ec318431f8076236a1e749258
Akademický článek
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Publikováno v:
Heliyon, Vol 10, Iss 9, Pp e30304- (2024)
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies. ABCA4 is a sizabl
Externí odkaz:
https://doaj.org/article/9a27e0872d16436bb81fa7d7b3f09571
Autor:
Hilde R. Pedersen, Stuart J. Gilson, Lene A. Hagen, Josephine Prener Holtan, Ragnheidur Bragadottir, Rigmor C. Baraas
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo characterize retinal structural biomarkers for progression in adult-onset Stargardt disease from multimodal retinal imaging in-vivo maps.MethodsSeven adult patients (29–69 years; 3 males) with genetically-confirmed and clinically diagnose
Externí odkaz:
https://doaj.org/article/a8ff45fe64294439832a179ded1999e1
Autor:
Wang Menghua, Zhirou Hu
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e27024- (2024)
Background: Proliferative vitreoretinopathy (PVR) is the main cause of retinal detachment. However, the underlying mechanism of PVR is complex and has not yet been fully elucidated. The PI3K/Akt/mTOR signaling pathway is involved in angiogenesis and
Externí odkaz:
https://doaj.org/article/41ce732ae5164ff8add42f68c43eb64e
Akademický článek
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