Results 21 to 30 of about 87,753 (269)

Retinal gene therapy in X-linked retinitis pigmentosa caused by mutations in RPGR: Results at 6 months in a first in human clinical trial

Nature Medicine, 2020
Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people.
J. Cehajic-Kapetanovic, Kanmin Xue, Cristina Martínez-Fernández de la Cámara, A. Nanda, Alexandra Davies, Laura J Wood, A. Salvetti, M. Fischer, James W. Aylward, A. Barnard, J. Jolly, Edmond Luo, B. Lujan, Tuyen Ong, A. Girach, Graeme C. Black, Graeme C. Black, N. Gregori, Janet L. Davis, P. Rosa, Andrew J. Lotery, Andrew J. Lotery, B. Lam, Paulo E. Stanga, Paulo E. Stanga, R. MacLaren   +25 more
semanticscholar   +1 more source

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. [PDF]

, 2016
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the
Akram, Javed, Ayyagari, Radha, Gottsch, Clare Brooks S, Guru, Aditya A, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +9 more
core   +2 more sources

Retinal detachment in retinitis pigmentosa [PDF]

BMJ Open Ophthalmology, 2020
Objective Retinitis pigmentosa-related retinal detachment (RPRD) is rare, and the full spectrum of retinal complications is not well defined. To describe the types of retinal detachment in patients with retinitis pigmentosa and the surgical outcomes of RPRD. Methods
Weng Onn Chan, Nicholas Brennan, Andrew R Webster, Michel Michaelides, Mahiul M K Muqit   +4 more
openaire   +4 more sources

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Abramowicz M., Ahmed F., Ahmed F., Al-Kubaisy W., Asrat Y., Ayyagari R., Baillie I., Bergen H. R., Berson E., Bloem M., Bordley J., Bret-Dibat C., Brink E., Burstedt M., Burstedt M., Capon M., Carr R., Carr R., Chisholm C., Christian P., Cunier F., de Pee S., DOG, Donnen P., Duke-Elder S., Fishman G., Fuchs A., Fuchs A., Gross-Jendroska M., Guy J., Haidar J., Hartmann E., Hayashi T., Hayashi T., Heckenlively J., Kalloniatis M., Kamei M., Kellner U., Kolling G., Lauber H., Lei B., Lorenz B., Main A., Marmor M., Marmor M., McBain V., Mele L., Milam A., Miyake Y., Miyake Y., Miyake Y., Mizuo A., Morimura H., Nabakwe E., Nettleship E., Oguchi C., Onder C., Parker W., Perlman I., Pesudovs K., Phelan J., Polans A., Polkinghorne P., Ramalho R., Reiner J., Resnikoff S., Ripps H., Rosen D., Rosen D., Rougier M., Ruiz-Martin M., Saunders C., Sawyer R., Schaumberg D., Schemann J., Schlote T., Schubert G., Sharp D., Shaw C., Skinner H., Smith R. A. J., Sommer A., Somner A., Sorsby A., Souied E., Spalton D., Stephenson S., Stockman A., Tabata Y., Takeuchi T., Taren D., Thirkill C., Tielsch J., Underwood B., Uyemura M., Weinstein J., Weiss J., Weiss N., Wolf G., Wolf G., Wolfe J. E.   +100 more
core   +1 more source

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins [PDF]

, 2020
Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the ...
Aramburu, Ana, Bhatia, Vaibhav, Bhattacharya, Shom S, Calado, Sofia, Chakarova, Christina, de la Cerda, Berta, Diez-Lloret, Andrea, Díaz-Corrales, Francisco J, García-Delgado, Ana B, Massalini, Simone, Montero-Sánchez, Adoración, Rodríguez-Bocanegra, Eduardo, Rodríguez-Martínez, Daniel, Valdés-Sánchez, Lourdes   +13 more
core   +2 more sources

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).
Edward Wong, Ling Gu, Mathew Ficinski, Samarendra Mohanty, Samarendra Mohanty, Shivaranjani Shivalingaiah   +5 more
core   +2 more sources

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study [PDF]

, 2018
The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we
A Hagiwara, A Schatz, AF Wright, AH Hariri, Andi Abeshi, Barbara Sala, BJ Keats, C Bunker, CA Adackapara, CO Pierrottet, CX Cai, DA Bessant, DB Farber, DG Birch, DT Hartong, E Strettoi, E Zrenner, F Testa, Fabio Patelli, GA Fishman, Giovanni Montesano, GM Acland, H Chung, H Hirakawa, H JR, HS Uy, J Sahel, JW Bainbridge, K Holopigian, L Dacruz, L Gränse, Leonardo Colombo, LH Lima, Luca Rossetti, M Haim, Matteo Bertelli, MS Humayun, Paolo Maltese, RP McNabb, S Bundey, S Grover, SG Jacobson, SP Daiger, T Léveillard, T Léveillard, T Sujirakul, V Busskamp, V Kitiratschky, VG Grigoropoulos, W Berger, W Seiple, Y He, Y Makiyama   +52 more
core   +1 more source

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

Management of retinitis pigmentosa by Wharton’s jelly-derived mesenchymal stem cells: prospective analysis of 1-year results

Stem cell research & therapeutics, 2020
The aim of the study was to investigate annual structural and functional results, and their correlation with inheritance pattern of retinitis pigmentosa (RP) patients who were treated with Wharton’s jelly-derived mesenchymal stem cells (WJ-MSCs).
Emin Özmert, U. Arslan
semanticscholar   +1 more source

Unilateral retinitis pigmentosa [PDF]

Clinical and Experimental Optometry, 2010
Retinitis pigmentosa is a group of hereditary disorders, the common feature of which is a progressive deterioration in vision due to degeneration of the retina.
Ajit, Thakur, Lila, Puri
openaire   +2 more sources