Results 51 to 60 of about 37,740 (162)

Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation

Stem Cell Research
Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here,
Ying Wang, Yan-Li Wang, Ming-Xia Du, Zi-Bing Jin, Xiao Zhang   +4 more
doaj   +1 more source

Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa

Antioxidants, 2020
Endogenous antioxidants protect cells from reactive oxygen species (ROS)-related deleterious effects, and an imbalance in the oxidant/antioxidant systems generates oxidative stress.
Luigi Donato, Concetta Scimone, Simona Alibrandi, Giacomo Nicocia, Carmela Rinaldi, Antonina Sidoti, Rosalia D’Angelo   +6 more
doaj   +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

Retinitis Pigmentosa [PDF]

, 1971
Presenting Symptom: Visual field constriction. Pathology: Pigmentary retinopathy. Clinical: Although occurring usually as a solitary entity, retinitis pigmentosa may be associated with several systemic hereditary conditions: deafness, cerebellar ...
David G. Cogan, MD (1908-1993)
core  

Visual Cortical Plasticity in Retinitis Pigmentosa [PDF]

, 2019
Retinitis pigmentosa is a family of genetic diseases inducing progressive photoreceptor degeneration. There is no cure for retinitis pigmentosa, but prospective therapeutic strategies are aimed at restoring or substituting retinal input.
Falsini, Benedetto, Binda, Paola, Falsini B., PLACIDI, GIORGIO, Cicchini, Guido,, Morrone, Maria Concetta, Lunghi, Claudia, Concetta Morrone, Maria, Galli-Resta, Lucia, Lunghi C., Placidi G., Cicchini, Guido Marco   +11 more
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Ueber Retinitis pigmentosa [PDF]

, 1900
UEBER RETINITIS PIGMENTOSA Ueber Retinitis pigmentosa ([1]) Binding ( - ) Title page ([1]) Dedication ([3]) Chapter ([5]) Litteraturverzeichnis. ( - ) Lebenslauf. ( - ) Binding ( -
Rosenbaum, Otto
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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

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

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

Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy [PDF]

Background Retinitis pigmentosa (RP) is a genetically heterogeneous group of degenerative disorders causing progressive vision loss due to photoreceptor death. RP affects other retinal cells, including the retinal pigment epithelium (RPE).
Liu, Siyuan, Tsai, Yi-Ting, Demirkol, Aykut, Tsang, Stephen H., Nolan, Nicholas D., Cabral, Thiago, Wu, Wen-Hsuan, Wang, Nan-Kai, Caruso, Salvatore M., Quinn, Peter M. J., Costa, Bruna L.   +10 more
core   +2 more sources