Zobrazeno 1 - 10
of 413
pro vyhledávání: '"Rod-cone dystrophy"'
Autor:
Xiaoli Zhang, Shun Yao, Lujia Zhang, Beisi Zhang, Mingzhu Yang, Qingge Guo, Jin Xu, Zhongfeng Wang, Bo Lei, Xiuxiu Jin
Publikováno v:
FASEB BioAdvances, Vol 6, Iss 11, Pp 555-564 (2024)
Abstract Mitochondria are vital for retinal cell function and survival, and there is growing evidence linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have been linked to multiple forms of retinal degeneration, the
Externí odkaz:
https://doaj.org/article/8b89c51d5f1143699d937fb8b3c3cfcd
Autor:
Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenes
Externí odkaz:
https://doaj.org/article/1af6536faa4e4fd2b67af9635c62c787
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Purpose The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. Approach We screened various variables such as the CRB1 mutation types, domains,
Externí odkaz:
https://doaj.org/article/2f9fa42411304ac999e2c93ed33dc9eb
Autor:
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 2566-2575 (2024)
Bardet–Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disab
Externí odkaz:
https://doaj.org/article/957bdc72c35d4714ac632f1170ffbc9d
Autor:
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disord
Externí odkaz:
https://doaj.org/article/0860ff5ddc024d86ada8fe8cf5af697c
Autor:
Rodrigo Manuel Robalo Curado Vilares Morgado, Ana Margarida Ferreira, Renato Santos-Silva, Rita Quental, Angela Carneiro, Sérgio Estrela-Silva
Publikováno v:
Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 519-527 (2023)
The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no hist
Externí odkaz:
https://doaj.org/article/5972c07ec35447f282b072e3b82a7d22
Autor:
Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo
Publikováno v:
Medicina, Vol 60, Iss 2, p 254 (2024)
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts f
Externí odkaz:
https://doaj.org/article/83b2da28abdc4e8788f1ab43b53ceb6c
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.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.