Results 51 to 60 of about 40,110 (209)

Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019
Leber congenital amaurosis (LCA) is the most serious form of inherited retinal dystrophy that leads to blindness or severe visual impairment within a few months after birth.
Zhen Qu, Tinsae Assefa Yimer, Shanglun Xie, F. Wong, Shanshan Yu, Xiliang Liu, Shanshan Han, Juanjuan Ma, Zhaojing Lu, Xuebin Hu, Yayun Qin, Yuwen Huang, Yuexia Lv, Jingzhen Li, Zhao-hui Tang, Fei Liu, Mugen Liu   +16 more
semanticscholar   +1 more source

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations

Frontiers in Molecular Neuroscience, 2014
RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang, Jeanne M Frederick, Wolfgang eBaehr   +2 more
doaj   +1 more source

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 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

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, Penny Clouston, Robert E. MacLaren   +4 more
doaj   +1 more source

The research output of rod-cone dystrophy genetics

Orphanet Journal of Rare Diseases, 2022
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh   +6 more
doaj   +1 more source

NMNAT1 variants cause cone and cone-rod dystrophy. [PDF]

Eur J Hum Genet, 2018
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV.   +6 more
europepmc   +2 more sources

Cone–Rod Dystrophy PCARE-Associated Retinopathy

Diagnostics
Background and Clinical Significance: Biallelic pathogenic variants in the PCARE gene (photoreceptor cilium actin regulator), also known as C2orf71 (chromosome 2 open reading frame 71), are typically associated with retinitis pigmentosa type 54 (RP54 ...
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, Diana Pérez García, Isabel Pinilla   +7 more
doaj   +1 more source

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Scientific Reports, 2017
Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS and the molecular mechanisms of how these mutations cause retinal degeneration are still ...
Zhaojing Lu, Xuebin Hu, Fei Liu, Dinesh C. Soares, Xiliang Liu, Shanshan Yu, Meng Gao, Shanshan Han, Yayun Qin, Chang Li, Tao Jiang, Daji Luo, A. Guo, Zhao-hui Tang, Mugen Liu   +14 more
semanticscholar   +1 more source

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

Ophthalmic Genetics, 2018
Background: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins.
D. Kubota, K. Gocho, S. Kikuchi, K. Akeo, M. Miura, K. Yamaki, Hiroshi Takahashi, S. Kameya   +7 more
semanticscholar   +1 more source