Results 21 to 30 of about 53,967 (228)

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

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 more sources

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id, Daniela Domanico, Enzo Maria Vingolo, Marcella Nebbioso, Paolo Trabucco, Serena Fragiotta   +5 more
core   +3 more sources

Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]

, 2017
Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio, Reilly, James, Shu, Xinhua, Tiano, Luca, Tohari, Ali Mohammad, Zhang, Xun, Zhou, Xinzhi   +6 more
core   +1 more source

Unilateral retinitis pigmentosa

Nepalese Journal of Ophthalmology, 2015
Objective: To report a rare case of unilateral retinitis pigmentosa and to present the clinical features, and ¿ndings of multifocal ERG and visual field of this case.Case: A 70-year-old-female diagnosed as Retinitis Pigmentosa in right eye 7 years back, presented with further gradual painless diminution of vision in the very eye and without any similar
Bhattarai, D., Paudel, N., Adhikari, P., Gnyawali, S., Joshi, S. N.   +4 more
openaire   +4 more sources

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]

, 2016
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide, Leon, Alberta, Miotto, Stefania, Piermarocchi, Stefano, Segato, Tatiana   +4 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

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

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association

Case Reports in Ophthalmology, 2015
Aim: To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. Methods: A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years.
A.P. Vignesh, Renuka Srinivasan, Swathi Karanth, Sai Vijitha   +3 more
doaj   +1 more source