Results 41 to 50 of about 48,210 (290)

Treatment-Emergent Adverse Events in Gene Therapy Trials for Inherited Retinal Diseases: A Narrative Review

Ophthalmology and Therapy, 2020
Patient safety is a primary priority in the conduction of retinal gene therapy trials. An understanding of risk factors and mitigation strategies for post-procedure complications is crucial for the optimization of gene therapy clinical trial protocols ...
Yan Nuzbrokh, Alexis S. Kassotis, Sara D. Ragi, Ruben Jauregui, Stephen H. Tsang   +4 more
doaj   +1 more source

Neural and Müller glial adaptation of the retina to photoreceptor degeneration

Neural Regeneration Research, 2023
The majority of inherited retinal degenerative diseases and dry age-related macular degeneration are characterized by decay of the outer retina and photoreceptors, which leads to progressive loss of vision.
Henri O Leinonen, Edward Bull, Zhongjie Fu   +2 more
doaj   +1 more source

Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies

Frontiers in Medicine, 2022
Successful sequencing of the human genome and evolving functional knowledge of gene products has taken genomic medicine to the forefront, soon combining broadly with traditional diagnostics, therapeutics, and prognostics in patients.
Priyalakshmi Panikker, Shomereeta Roy, Anuprita Ghosh, B. Poornachandra, Arkasubhra Ghosh   +4 more
doaj   +1 more source

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

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

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

Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific [PDF]

, 2015
Despite different aetiologies, most inherited retinal disorders culminate in photoreceptor loss, which induces concomitant changes in the neural retina, one of the most striking being reactive gliosis by Müller cells.
Ali, RR, Barber, AC, Graca, AB, Hippert, C, Pearson, RA, Smith, AJ, West, EL   +6 more
core   +1 more source

Animals Models of Inherited Retinal Disease

International Ophthalmology Clinics, 2021
Inherited retinal diseases (IRDs) are an important cause of blindness worldwide. Over 270 genes have been associated with IRD. Genetic testing can determine the cause of the clinical disease in the majority of patients. However, at least 25-50% of patients with clinical diagnosis of IRD remain unsolved even after whole genome sequencing.
openaire   +4 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

BMC Ophthalmology
Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez   +14 more
doaj   +1 more source