Revisiting the Genomic Epidemiology of Distinct Phage-Type Vibrio cholerae Strains Reveals Restricted Spatiotemporal Dissemination During an Epidemic [PDF]
MicroorganismsThe El Tor biotype of Vibrio cholerae caused the seventh cholera pandemic (7CP). Although V. cholerae variants of this biotype frequently emerge, studies on their microevolution and spatiotemporal transmission in epidemics caused by a single clone are ...
Yu Jiang +6 more
doaj +2 more sources
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. [PDF]
Mol Vis, 2014 X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene in Xp22.1. These mutations lead to schisis (splitting) of the neural retina and subsequent reduction in visual acuity in affected men (OMIM # 312700). The aim of this study was to identify the RS1 gene mutations in a cohort of Chinese patients with X-linked retinoschisis,
Chen J +5 more
europepmc +2 more sources
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. [PDF]
Mol Ther, 2018 Cukras C +17 more
europepmc +2 more sources
Erratum in: A Novel AAV Capsid-Mediated RS1 Gene Therapy Restored Retinal Function to Wild-Type Levels in Rs1R213W Mouse Model. [PDF]
Invest Ophthalmol Vis Scieuropepmc +2 more sources
Two new ApoB gene polymorphisms: Rs1 and Rs2 [PDF]
Nucleic Acids Research, 1988 2.0 kb fragment intestinal cDNA clone I(2)1 in pUC18 was isolated. It was located on 2p23-24 by in-situ hybridization. Co-dominant segregation was observed for Rs1 and Rs2.
J J, Genest +5 more
openaire +2 more sources
Mouse U2af1-rs1 Is a Neomorphic Imprinted Gene [PDF]
Molecular and Cellular Biology, 1997 The mouse U2af1-rs1 gene is an endogenous imprinted gene on the proximal region of chromosome 11. This gene is transcribed exclusively from the unmethylated paternal allele, while the methylated maternal allele is silent. An analysis of genome structure of this gene revealed that the whole gene is located in an intron of the Murr1 gene.
Nabetani, A. +4 more
openaire +2 more sources
Synaptic Pathology in Retinoschisis Knockout (Rs1−/y) Mouse Retina and Modification by rAAV-Rs1Gene Delivery [PDF]
Investigative Opthalmology & Visual Science, 2008 At an early age, the retinoschisin knockout (Rs1-KO) mouse retina has progressive photoreceptor degeneration with severe disruption of the outer plexiform layer (OPL) that decreases at older ages. The electroretinogram (ERG) undergoes parallel changes. The b-wave amplitude from bipolar cells is reduced disproportionately to the photoreceptor a-wave at ...
Yuichiro, Takada +5 more
openaire +2 more sources
Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of ...
Paulo Rodolfo Tagliari Barbisan +1 more
doaj +1 more source
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene [PDF]
Nucleic Acids Research, 2008 X-linked juvenile retinoschisis is a heritable condition of the retina in males caused by mutations in the RS1 gene. Still, the cellular function and retina-specific expression of RS1 are poorly understood. To address the latter issue, we characterized the minimal promoter driving expression of RS1 in the retina.
Langmann, Thomas +6 more
openaire +3 more sources
Stem Cell Research, 2020 X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene.
Shengru Mao +12 more
doaj +1 more source