Results 91 to 100 of about 87,753 (269)

The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice. [PDF]

, 2020
Retinitis pigmentosa is a retinal degenerative disease that leads to blindness through photoreceptor loss. Rhodopsin is the most frequently mutated protein in this disease.
Arshavsky, Vadim Y, Burns, Marie E, Cady, Martha A, Hao, Ying, Lewis, Tylor R, Shores, Camilla R   +5 more
core   +1 more source

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. [PDF]

, 2015
PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN:
Audo, I., Baudoin, C., Behar-Cohen, F., Bocquet, B., Béroud, C., Defoort-Dhellemmes, S., Devos, A., Dhaenens, C.M., Dollfus, H., Dufier, J.L., Faivre, L., Findlay, J.B., Guillaumie, T., Hamel, C.P., Kaplan, J., Le Meur, G., Manes, G., Marquette, V., Meunier, I., Odent, S., Picot, M.C., Puech, B., Sahel, J.A., Said, S.M., Sénéchal, A., Verdier, C., Vos, W.L., Weber, M., Zanlonghi, X., Zeitz, C.   +29 more
core   +1 more source

Organoids in Cancer Research and Regenerative Medicine: Current Status, Challenges, and Future Prospects

MedComm, Volume 7, Issue 1, January 2026.
The management of cancer and tissue regeneration remains a substantial challenge to global health. Organoids, which are stem cell‐derived three‐dimensional multicellular structures, are revolutionizing biomedical research. Therefore, this review highlights their applications in cancer research and regenerative medicine, while discussing current ...
Ruiyang Li, Yuezhou Wu, Zhu'anzhen Zheng, Fengjin Zhou, Ke Xu, Jiacan Su   +5 more
wiley   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Minigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Qifan Ma, Chenyang Xu, Xueqin Xu, Yanbao Xiang   +3 more
wiley   +1 more source

Ocular abnormalities  in a large patient cohort  with  Retinitis Pigmentosa  in Western China [PDF]

, 2021
Tan Lian, Yanling Long, Ziyang Li, Xi Ying, Jiayun Ren, Cheng Sun, Xiaohong Meng, Shiying Li   +7 more
openalex   +1 more source

Autophagy Dysfunction and Oxidative Stress, Two Related Mechanisms Implicated in Retinitis Pigmentosa

Frontiers in Physiology, 2018
Retinitis pigmentosa (RP) is one of the most common clinical subtypes of retinal degeneration (RD), and it is a neurodegenerative disease that could cause complete blindness in humans because it ultimately affects the photoreceptors viability.
Mari-Luz Moreno, Salvador Mérida, F. Bosch-Morell, M. Miranda, V. M. Villar   +4 more
semanticscholar   +1 more source

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

Stargardt's disease and retinitis pigmentosa: different phenotypic presentations in the same family [PDF]

, 2005
Şengül Özdek, Zafer Onaran, Gökhan Gürelik, Kamil Bïlgïhan, Ceren Acar, Berati Hasanreisoğlu   +5 more
openalex   +1 more source

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa

Human Molecular Genetics, 2017
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death of photoreceptor cells.
D. Athanasiou, Monica Aguila, J. Bellingham, N. Kanuga, P. Adamson, M. Cheetham   +5 more
semanticscholar   +1 more source

Retinitis Pigmentosa

Asia-Pacific Journal of Ophthalmology, 2016
Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing blindness. Great progress has been made in the identification of the causative genes. Gene diagnosis will soon become an affordable routine clinical test because of the wide application of next-generation sequencing.
openaire   +2 more sources