Results 91 to 100 of about 517,479 (253)

Reflection on the efficacy of gene therapy in the treatment of inherited retinal degeneration

, 2016
Inherited retinal degeneration is a group of genetic retinal disorders characterized by the death of photoreceptor cells. Over 150 genes are associated with inherited retinal degeneration; the proteins encoded by these genes are required not only for ...
Shu, Xinhua, Zhang, Xun, Reilly, James
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Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Molecular genetic analysis of a "sine oculis" enhancer and the "leventina" gene as a model system to study human macular degeneration in "Drosophila" [PDF]

, 2004
The leventina gene as a model system to study human macular degeneration in Drosophila. Age-related macular degeneration (AMD) is one of the most frequent reasons for blindness of the elderly people and accounts for approximately 50% of registered ...
Pauli, Tobias Samuel
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A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Mutation-independent treatment of autosomal dominant Retinitis Pigmentosa (adRP) [PDF]

, 2010
Viral-mediated gene therapy holds great promise for the treatment of severe inherited retinal diseases, such as Retintitis Pigmentosa (RP), which is caused by mutations in genes preferentially expressed in photoreceptor cells. The availability of vectors
Mussolino, Claudio
core   +1 more source

Dual-targeting CSF1R signaling attenuates neurotoxic myeloid activation and preserves photoreceptors in retinitis pigmentosa

Journal of Neuroinflammation
Retinitis pigmentosa (RP), a group of inherited retinal diseases characterized by progressive photoreceptor degeneration, features prominent microglial activation and monocyte-derived macrophage infiltration.
Jiangmei Wu, Jing Zhang, Bin Lin
doaj   +1 more source

Increased proteasomal activity supports photoreceptor survival in inherited retinal degeneration [PDF]

, 2018
Inherited retinal degenerations, affecting more than 2 million people worldwide, are caused by mutations in over 200 genes. This suggests that the most efficient therapeutic strategies would be mutation independent, i.e., targeting common pathological ...
Mikael Klingeborn, Skiba, Nikolai P., Skiba, Nikolai P, Arshavsky, Vadim Y, Travis, Amanda M, Li, Jing, Klingeborn, Mikael, Deshaies, Raymond J., Nikolai P. Skiba, Travis, Amanda M., Jing Li, Raymond J. Deshaies, Hao, Ying, Lobanova, Ekaterina S., Ekaterina S. Lobanova, Amanda M. Travis, Vadim Y. Arshavsky, Arshavsky, Vadim Y., Ying Hao, Stella Finkelstein, Lobanova, Ekaterina S, Deshaies, Raymond J, Finkelstein, Stella   +22 more
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Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome

Disease Models & Mechanisms, 2013
SUMMARY Goldmann-Favre syndrome, also known as enhanced S-cone syndrome, is an inherited retinal degeneration disease in which a gain of photoreceptor cell types results in retinal dysplasia and degeneration.
Nan-Kai Wang, Chi-Chun Lai, Chi-Hsiu Liu, Lung-Kun Yeh, Chai Lin Chou, Jian Kong, Takayuki Nagasaki, Stephen H. Tsang, Chung-Liang Chien   +8 more
doaj   +1 more source

Viral vector-mediated RNA interference in the retina [PDF]

, 2010
RNA interference (RNAi) is a highly conserved post-transcriptional gene silencing process triggered by double-stranded RNA (dsRNA) in eukaryotic cells.
Georgiadis, A.
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