Results 31 to 40 of about 15,202 (200)

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]

, 2006
PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir, Burt, David W., Getty, Paul, Hocking, Paul M., Inglehearn, Chris F., Lester, Douglas H., Tummala, Hemanth   +6 more
core   +1 more source

Alström Syndrome with Acute Pancreatitis: A Case Report

Kaohsiung Journal of Medical Sciences, 2003
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu, Shinn-Cherng Chen, Chia-Yen Dia, Ming-Lung Yu, Ming-Yuh Hsieh, Zu-Yau Lin, Liang-Yen Wang, Jung-Fa Tsai, Wen-Yu Chang, Wan-Long Chuang   +9 more
doaj   +1 more source

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations

Frontiers in Molecular Neuroscience, 2014
RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang, Jeanne M Frederick, Wolfgang eBaehr   +2 more
doaj   +1 more source

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, Penny Clouston, Robert E. MacLaren   +4 more
doaj   +1 more source

Structural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1. [PDF]

, 2014
Neuronal calcium sensor (NCS) proteins, a sub-branch of the calmodulin superfamily, are expressed in the brain and retina where they transduce calcium signals and are genetically linked to degenerative diseases.
Ames, James B, Dizhoor, Alexander M, Lim, Sunghyuk   +2 more
core   +2 more sources

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 more
doaj   +1 more source

The research output of rod-cone dystrophy genetics

Orphanet Journal of Rare Diseases, 2022
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh   +6 more
doaj   +1 more source

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

GNB1-Related Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +1 more source

Coenzyme Q10 as a therapeutic candidate for treating inherited photoreceptor degeneration [PDF]

, 2017
Inherited photoreceptor degeneration (IPD): The human retina is a highly specialised tissue that enables the perception of light across a range of intensities and colours.
Biswas, Lincoln, Reilly, James, Shu, Xinhua, Tiano, Luca, Tohari, Ali Mohammad, Zhang, Xun   +5 more
core   +4 more sources