Results 71 to 80 of about 53,967 (228)

Dampening Spontaneous Activity Improves the Light Sensitivity and Spatial Acuity of Optogenetic Retinal Prosthetic Responses [PDF]

, 2016
Retinitis pigmentosa is a progressive retinal dystrophy that causes irreversible visual impairment and blindness. Retinal prostheses currently represent the only clinically available vision-restoring treatment, but the quality of vision returned remains ...
Barrett, John Martin, Hilgen, Gerrit, Sernagor, Evelyne   +2 more
core   +1 more source

Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

Clinical Case Reports
Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized ...
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Javad Mohammadi‐Asl   +2 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

Journal of Medical Case Reports, 2008
Introduction Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.
Jayaram Hari, Downes Susan M
doaj   +1 more source

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]

, 2017
Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F, Cheetham, Michael E, Chen, Li Li, Coffey, Peter J, da Cruz, Lyndon, J K Smart, Matthew, Moore, Anthony T, Muthiah, Manickam N, Nommiste, Britta, Powner, Michael B, R Lane, Amelia, Ramsden, Conor M, Webster, Andrew R   +12 more
core   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa

Journal of Ophthalmology, 2015
Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe ...
Francesco Saverio Sorrentino, Claudio Bonifazzi, Paolo Perri   +2 more
doaj   +1 more source

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation [PDF]

, 2002
Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Cheetham, ME, Luthert, PJ, Munro, PMG, Saliba, RS   +3 more
core