Results 131 to 140 of about 19,769 (229)

Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy. [PDF]

Front Genet, 2022
Liu X, Jia R, Meng X, Wang L, Yang L.
europepmc   +1 more source

Gene discovery and prevalence in inherited retinal dystrophies

Comptes Rendus. Biologies, 2014
Inherited retinal dystrophies are Mendelian neurodegenerative conditions classified as pigmentary retinopathies, macular dystrophies and others. Over a 21-year period, from 1990 to 2011, we have screened in Montpellier 107 genes in 609 families and have identified a causal mutation in 68.5% of them.
openaire   +2 more sources

A spontaneous nonhuman primate model of inherited retinal degeneration

JCI Insight
Inherited retinal degenerations (IRDs) are important causes of progressive, irreversible blindness. Hereditary macular diseases, in particular, are significant in their effect on the specialized, central cone photoreceptor–rich macula responsible for ...
Wei Yi, Mingming Xu, Ying Xue, Yingxue Cao, Ziqi Yang, Lingli Zhou, Yang Zhou, Le Shi, Xiaomei Mai, Zehui Sun, Wenjie Qing, Yuying Li, Aolun Qing, Kaiwen Zhang, Lechun Ou, Shoudeng Chen, Elia J. Duh, Xialin Liu   +17 more
doaj   +1 more source

GNB1-Related Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology
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).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +1 more source

Purinergic Receptors P2X7 and P2X4 as Markers of Disease Progression in the rd10 Mouse Model of Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci, 2022
Martínez-Gil N, Kutsyr O, Noailles A, Fernández-Sánchez L, Vidal L, Sánchez-Sáez X, Sánchez-Castillo C, Lax P, Cuenca N, García AG, Maneu V.   +10 more
europepmc   +1 more source

Evolution of Cellular Inclusions in Bietti's Crystalline Dystrophy

Ophthalmology and Eye Diseases, 2010
Bietti's crystalline dystrophy (BCD) consists of small, yellow-white, glistening intraretinal crystals in the posterior pole, tapetoretinal degeneration with atrophy of the retinal pigment epithelium (RPE) and “sclerosis” of the choroid; in addition ...
Emiko Furusato, J. Douglas Cameron, Chi-Chao Chan   +2 more
doaj   +1 more source

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review. [PDF]

Genes (Basel), 2022
Griffith J, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW.   +8 more
europepmc   +1 more source

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy. [PDF]

Sci Rep, 2022
Testa F, Melillo P, Di Iorio V, Iovino C, Farinaro F, Karali M, Banfi S, Rossi S, Della Corte M, Simonelli F.   +9 more
europepmc   +1 more source

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]

, 2013
BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core   +2 more sources

Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration in a Spontaneous Polygenic Model of Inherited Retinal Dystrophy. [PDF]

Front Pharmacol, 2022
Hollingsworth TJ, Wang X, White WA, Simpson RN, Jablonski MM.   +4 more
europepmc   +1 more source