Results 61 to 70 of about 517,479 (253)

Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype [PDF]

, 2011
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core   +1 more source

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

BMC Ophthalmology
Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez   +14 more
doaj   +1 more source

OCT guided micro-focal ERG system with multiple stimulation wavelengths for characterization of ocular health

Scientific Reports, 2022
Inherited retinal disorders and dry age-related macular degeneration are characterized by the degeneration and death of different types of photoreceptors at different rate and locations.
Michael Carlson, Sanghoon Kim, Silvia Aparicio-Domingo, Kang V. Li, Ben Puig, Subrata Batabyal, M. Valeria Canto-Soler, Samarendra Mohanty   +7 more
doaj   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

, 2014
Background: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
During, MJ, Reed Clark, K., Maclaren, Robert, Tolmachova, Tanya, Black, G.C.M., Seabra, Miguel C., Cottriall, Charles L., Groppe, M, Tolmachova, T, Black, Graeme C M, MacLaren, RE, Groppe, Markus, During, M.J., Reed Clark, K, Webster, A.R., Lotery, AJ, Barnard, Alun, Cremers, FPM, Clark, KR, MacLaren, Robert E., Cottriall, C.L., Downes, SM, Webster, AR, Seabra, MC, Cremers, Frans P M, Seymour, Len, Black, GCM, Downes, S.M., Seymour, L, Cottriall, CL, Cremers, F.P.M., Black, G.C., Clark, K., Seabra, M.C., Cremers, F.P., Groppe, M., Barnard, A.R., Barnard, AR, During, Matthew J., Black, GC, Lotery, Andrew J., Downes, Susan M., Seymour, L., Webster, Andrew R., MacLaren, R.E., Downes, Susan, Cremers, FP, Tolmachova, T., Lotery, A.J., Barnard, Alun R.   +49 more
core   +1 more source

Inherited Retinal Diseases

, 2022
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases that cause vision loss due to abnormal development or due to the dysfunction or degeneration of the photoreceptors or the retinal pigment epithelium [...
Tamar Ben-Yosef, Ben-Yosef, Tamar
core   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Role of microglial cells in photoreceptor degeneration

Neural Regeneration Research, 2019
Inherited photoreceptor degeneration in humans constitutes a major cause of irreversible blindness in the world. They comprise various diseases, but retinitis pigmentosa is the most frequently observed. Retinitis pigmentosa is commonly limited to the eye,
Johnny Di Pierdomenico, Diego García-Ayuso, Marta Agudo-Barriuso, Manuel Vidal-Sanz, María Paz Villegas-Pérez   +4 more
doaj   +1 more source

Non-viral delivery and optimized optogenetic stimulation of retinal ganglion cells led to behavioral restoration of vision [PDF]

, 2012
Stimulation of retinal neurons using optogenetics via use of chanelrhodopsin-2 (ChR2) has opened up a new direction for restoration of vision for treatment of retinitis pigmentosa (RP).
Shivaranjani Shivalingaiah, Samarendra Mohanty, Mathew Ficinski, Ling Gu, Edward Wong   +4 more
core   +1 more source

In Vivo Direct Reprogramming: Current Progress and Future Prospects from Mechanisms to Therapeutic Application

Advanced Science, EarlyView.
This review examines the potential of in vivo direct reprogramming in regenerative medicine for functional tissue restoration, highlighting the role of tissue‐resident cues in generating functionally mature reprogrammed cells from lineage‐related cells. It contains a discussion on mechanisms, reprogramming factors, delivery approaches, and applications
Rishabh Deo Singh, Mauro Calvoli, Kyeong Kyu Kim   +2 more
wiley   +1 more source