2021
DOI: 10.1242/dmm.048962
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Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina

Abstract: Retinitis pigmentosa (RP) and macular dystrophy (MD) are characterized by gradual photoreceptor death in the retina and are often associated with genetic mutations including those in the Prominin-1 (Prom1) gene. Prom1-knockout (KO) mice recapitulate key features of these diseases including light-dependent retinal degeneration and constriction of retinal blood vessels. The mechanisms underlying such degeneration have remained unclear, however. We here analysed early events associated with retinal degeneration i… Show more

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Cited by 10 publications
(16 citation statements)
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“…27,28 Recent studies have paid attention to the genetic and mechanistic inducers of retinal degeneration attributed to the loss of PRCs in RP. 29,30 Here, we performed analyses based on GEO microarrays and WGCNA data. Ultimately, 338 DEGs and 53 coexpression modules were characterized in the context of RP.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…27,28 Recent studies have paid attention to the genetic and mechanistic inducers of retinal degeneration attributed to the loss of PRCs in RP. 29,30 Here, we performed analyses based on GEO microarrays and WGCNA data. Ultimately, 338 DEGs and 53 coexpression modules were characterized in the context of RP.…”
Section: Discussionmentioning
confidence: 99%
“…However, therapeutic methods for replacing the lost photoreceptors have yet to be established, although several cell‐based treatment strategies have been tested in preclinical experiments 27,28 . Recent studies have paid attention to the genetic and mechanistic inducers of retinal degeneration attributed to the loss of PRCs in RP 29,30 . Here, we performed analyses based on GEO microarrays and WGCNA data.…”
Section: Discussionmentioning
confidence: 99%
“…One in 4000 people suffer from RP and MD [ 3 5 ], half of whom have genetic traits, and disorders are passed from ancestors to descendants in specific pedigrees. More than 60 genes have been identified as causative for RP and MD, and Prominin-1 (Prom1/CD133), the focus in this study, is one of such genes [ 6 10 ].…”
Section: Introductionmentioning
confidence: 99%
“…Prom1 -mutant mice exhibit severe photoreceptor loss and failure of autophagy of RPE cells [ 17 ]; therefore, drusen, the accumulation of lipids and proteins that should have been removed, accumulates around the RPE cell layer. Light stimulation is a major trigger of the retinal phenotype [ 6 ]; Prom1 -KO mice exhibit programmed cell death and progressive thinning of the outer nuclear layer (ONL) of the retina [ 6 ].…”
Section: Introductionmentioning
confidence: 99%
“… ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Yuka Kobayashi is first author on ‘ Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1 -deficient retina ’, published in DMM. Yuka is assistant professor in the lab of Prof. Kazuhiro Kimura at Yamaguchi University Graduate School of Medicine, Ube, Japan, investigating ophthalmology.…”
mentioning
confidence: 99%