Long term follow-up of a family with GUCY2D dominant cone dystrophy [PDF]
International Journal of Ophthalmology, 2018 AIM: To describe long term follow-up in a family with GUCY2D dominant cone dystrophy. METHODS: Optical coherence tomography scans and fundus autofluorescence images were obtained.
Georgios Tsokolas +6 more
doaj +5 more sources
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations [PDF]
iScience, 2021 Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson +12 more
doaj +4 more sources
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis [PDF]
Journal of Ophthalmology, 2015 Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies.
Katsuhiro Hosono +6 more
doaj +3 more sources
Systematic Identification of Candidate Genes for Inherited Retinal Disease Gene Therapy Integrating Worldwide IRD Cohort and Single-Cell Analysis. [PDF]
J OphthalmolInherited retinal dystrophies (IRDs) constitute a heterogeneous group of primarily monogenic orphan diseases caused by mutations in over 300 genes, collectively affecting millions of individuals worldwide with visual impairment. Despite significant advances, the development of gene replacement therapy for IRDs has predominantly focused on single‐gene ...
Wang CY, Chen L, Lin TY, Huang SP.
europepmc +2 more sources
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center [PDF]
Indian Journal of OphthalmologyPurpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India. Design: Retrospective observational study.
Abhishek Upadhyaya +11 more
doaj +2 more sources
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
PLoS ONE, 2020 Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%-21% of all LCA cases.
Xue Feng +9 more
doaj +4 more sources
PLoS ONE, 2020 Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa
Muhammad Rashid +7 more
doaj +4 more sources
Targeted multi-layer analysis of PANoptosis-associated genes in the etiology of chronic kidney disease [PDF]
Human GenomicsBackground Previous studies have examined the cellular and molecular interactions between chronic kidney disease (CKD) and PANoptosis, yet the genetic underpinnings remain unclear.
Tong Li +5 more
doaj +2 more sources
Afferent activity to necklace glomeruli is dependent on external stimuli [PDF]
BMC Research Notes, 2009 Background The main olfactory epithelium (MOE) is a complex organ containing several functionally distinct subpopulations of sensory neurons. One such subpopulation is distinguished by its expression of the guanylyl cyclase GC-D.
Munger Steven D +2 more
doaj +4 more sources
Revolution of AAV in Drug Discovery: From Delivery System to Clinical Application. [PDF]
J Med VirolABSTRACT Adeno‐associated virus (AAV) is a non‐enveloped DNA virus infecting a wide variety of species, tissues, and cell types, which is recognized as a safe and effective method for delivering therapeutic transgenes. AAV vector is the most popular viral gene delivery system in clinical delivery systems with unique and multiple advantages, such as ...
Yin L +6 more
europepmc +2 more sources