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Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations
Retinitis pigmentosa (RP) is the most common cause of hereditary blindness, and may occur in isolation as a non-syndromic condition or alongside other features in a syndromic presentation. Biallelic or monoallelic mutations in one of eight genes encoding pre-mRNA splicing factors are associated with non-syndromic RP. The molecular mechanism of disease remains incompletely understood, limiting opportunities for targeted treatment. Here we use CRISPR and base edited PRPF6 and PRPF31 mutant cell lines, and publicly-available data from human PRPF31+/− patient derived retinal organoids and PRPF31 siRNA-treated organotypic ret...
Source: Frontiers in Genetics - September 13, 2022 Category: Genetics & Stem Cells Source Type: research

GSE206100 Direct conversion of rod to cone-like photoreceptors by NRL knockdown with cell-penetrating siRNA
Contributors : Hyungwoo Lee ; Hyoik Jang ; Jae-Byoung Chae ; Dong Ki Lee ; Hyewon ChungSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusTo investigate the retinal transcriptome in which Nrl gene is knocked down by cp-asiRNA (cp-asiNRL) in wildtype C57BL/6J mouse and laser-induced CNV model.
Source: GEO: Gene Expression Omnibus - June 24, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Metabolic Imbalance Effect on Retinal M üller Glial Cells Reprogramming Capacity: Involvement of Histone Deacetylase SIRT6
Retinal Müller glial cells (MGs) are among the first to demonstrate metabolic changes during retinal disease and are a potential source of regenerative cells. In response to a harmful stimulus, they can dedifferentiate acquiring neural stem cells properties, proliferate and migrate to the damaged retinal layer and differentiate into lost neurons. However, it is not yet known how this reprogramming process is regulated in mammals. Since glucose and oxygen are important regulatory elements that may help directing stem cell fate, we aimed to study the effect of glucose variations and oxidative stress in Müller cells reprogr...
Source: Frontiers in Genetics - November 4, 2021 Category: Genetics & Stem Cells Source Type: research

GSE164167 RNA-sequencing analysis of VEGFR2 knocking down in retinal pigment epithelial (RPE) cells upon glucose depletion.
Contributors : Bohan Xu ; Linbin Zhou ; Qishan Chen ; Jianing Zhang ; Lijuan Huang ; Shasha Wang ; Zhimin Ye ; Xiangrong Ren ; Yu Cai ; Weirong Chen ; Xuri Li ; Rong JuSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensRNA-sequencing analysis was utilized to investigate the impact of VEGFR2 knockdown via siRNA on transcriptome profiling in primary human RPE cells under the glucose depletion condition compared to the control siRNA.
Source: GEO: Gene Expression Omnibus - June 16, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Hypoxia-induced retinal pigment epithelium cell-derived bFGF promotes the migration and angiogenesis of HUVECs through regulating TGF- β1/smad2/3 pathway
This study preliminarily explored the effect of hypoxia-induced RPE-derived bFGF on the biological functions of human umbilical vein endothelial cells (HUVECs). After cell culture in hypoxia conditions, the cell viability, apoptosis, and the expressions of bFGF and vascular endothelial growth factor A (VEGFA) in human RPEs were detected by 3-(4, 5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT), flow cytometry, Western blot, RT-qPCR, or ELISA. The HUVECs were transfected with siRNA for bFGF (sibFGF) or transforming growth factor-β1 (TGF-β1) (siTGF-β1) and grown in the supernatant RPE under normoxia condition...
Source: Gene - May 8, 2021 Category: Genetics & Stem Cells Authors: Wensi Chen Shiping He Daoman Xiang Source Type: research

GSE165112 Interferon-induced transmembrane protein 1 (IFITM1) inhibits  Varicella-Zoster Virus Replication
Contributors : Seong K Kim ; Akhalesh K Shakya ; Dennis J O'CallaghanSeries Type : Expression profiling by arrayOrganism : Homo sapiensHosts have evolved numerous mechanisms to prevent primary viral infections. Interferon signaling is an important host defense mechanism against primary infection. Interferon gamma (IFN- γ) is a potent cytokine produced following primary varicella-zoster virus (VZV) infection. Furthermore, VZV reactivation correlates with a decline in IFN-γ-producing immune cells. Our previous results showed that pretreatment with 20 ng/ml of IFN-γ completely inhibited VZV replication in lung fib roblast ...
Source: GEO: Gene Expression Omnibus - January 20, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research

GSE143937 The Myc-Associated Zinc Finger Protein (MAZ) Works Both Independently and Together with CTCF to Control Cohesin Positioning and Genome Organization
Conclusions: Our study represents the first detailed analysis of retinal transcriptomes, with biologic replicates, generated by RNA-seq technology. The optimized data analysis workflows reported here should provide a framework for comparative investigations of expression profiles. Our results show that NGS offers a comprehensive and more accurate quantitative and qualitative evaluation of mRNA content within a cell or tissue. We conclude that RNA-seq based transcriptome characterization would expedite genetic network analyses and permit the dissection of complex biologic functions.
Source: GEO: Gene Expression Omnibus - January 1, 2021 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Other Homo sapiens Source Type: research

hsa_circ_0041795 contributes to human retinal pigment epithelial cells (ARPE 19) injury induced by high glucose via sponging miR-646 and activating VEGFC.
Abstract Diabetic retinopathy (DR)is a common diabetes complication, resulting in the loss of vision. circRNAshave been reported to serve as ceRNA via targeting corresponding miRNAs and modulating mRNA expression in various diseases. Recently, increasing reports has indicated circRNAs can exert a significant role inDR progression. However, the expression and mechanism of hsa_circ_0041795 in human retinal pigment epithelial cells ARPE-19 treated by high glucose remains poorly known. Hence, we aimed to work figure out the effect of hsa_circ_0041795 in high glucose (HG)-induced ARPE-19 cell damage and study its molec...
Source: Gene - April 3, 2020 Category: Genetics & Stem Cells Authors: Sun H, Kang X Tags: Gene Source Type: research

circRNA_0084043 contributes to the progression of diabetic retinopathy via sponging miR-140-3p and inducing TGFA gene expression in retinal pigment epithelial cells.
Abstract Diabetic retinopathy (DR) is a frequent complication of diabetes and it can lead to visual impairment and blindness. However, the mechanism of their regulation remains little known. circRNAs can function as crucial competing endogenous RNA, which can sponge corresponding miRNAs and affect mRNA expression in various diseases, including DR. In our current research, we observed that circRNA_0084043 was elevated in high glucose (HG)-incubated ARPE-19 cells. Then, we focused on whether and how circRNA_0084043 participated in retinal vascular dysfunction under conditions diabetes. Apoptosis, inflammation and ox...
Source: Gene - April 3, 2020 Category: Genetics & Stem Cells Authors: Li Y, Chen T, Wan C, Cang H Tags: Gene Source Type: research

GSE113008 mRNA sequencing of Aniridia limbal epithelial cells.
Contributors : Karl Nordstr öm ; Jasmin KirchSeries Type : Expression profiling by high throughput sequencingOrganism :PAX6-related Aniridia is a sight-threatening disease due to progression of secondary glaucoma and aniridia associated keratopathy (AAK). Changes or loss of limbal epithelial progenitors causes the epithelial surfaces defects. We analyzed how PAX6 contribute to this with a two-step approach. 1) mRNA Sequencing of limbal epithelial cells isolated from controls and aniridia patients. 2) confirming the bioinformatical and literature-based result list on a siRNA based primary aniridia cell model (PAX6- knockdo...
Source: GEO: Gene Expression Omnibus - October 24, 2018 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Source Type: research

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
by Lin Li, Xiaodong Jiao, Ilaria D ’Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A. Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V. Harlalka, Michel Michaelides, Anthony T. Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R. Lupski, Frans P. M. Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A. Sieving, Sheikh Riazuddin, Emma L. Baple, S. Amer Riazuddin, Andrew H. Crosby, J. Fiel...
Source: PLoS Genetics - August 29, 2018 Category: Genetics & Stem Cells Authors: Lin Li Source Type: research