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Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
- Xuejuan Chen, Kanxing Zhao, Chen Zhao
- BiologyInvestigative ophthalmology & visual science
- 1 March 2013
Identification of the novel HRDs-causing mutations in this study provides a better understanding of genotype-phenotype relationships in these diseases, and demonstrates that the approach described herein is an effective method for large scale mutation detection among diverse and complicated HRDs cases.
LncRNA ZNF503-AS1 promotes RPE differentiation by downregulating ZNF503 expression
This study identifies a group of RPE differentiation relevant lncRNAs, and the potential role of ZNF503-AS1 in the pathology of atrophic AMD, which might help with the intervention of AMD patients.
CRB2 mutation causes autosomal recessive retinitis pigmentosa
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees
Novel insights are provided into assessments of complicated pedigrees, the genetic complexity of RP is reinforced, and the need for extensive molecular evaluations in such challenging families with diverse inheritance modes and mutations is highlighted.
c-Jun-mediated microRNA-302d-3p induces RPE dedifferentiation by targeting p21Waf1/Cip1
In vitro study supported that miR-302d-3p induces RPE dedifferentiation typified by reduction of RPE characteristic markers, interrupts its phagocytosis, and promotes its migration, proliferation, and cell-cycle progression, and induces abnormal EC behavior by targeting p21Waf1/Cip1.
MicroRNA-184 promotes differentiation of the retinal pigment epithelium by targeting the AKT2/mTOR signaling pathway
The findings suggest that miR-184 insufficiency is involved in the pathogenesis of dry AMD because it promotes RPE differentiation via inhibiting the AKT2/mTOR signaling pathway.
Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration
It is revealed that abnormal activation of mTORC1 signaling leads to RPE degeneration, which could provide a promising target for the treatment of RPE dysfunction-related diseases.
Circular Noncoding RNA NR3C1 Acts as a miR-382-5p Sponge to Protect RPE Functions via Regulating PTEN/AKT/mTOR Signaling Pathway.
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy
The study extends the phenotypic and genotypic spectrums for LCA5-associated retinopathies and better illustrates its genotype-phenotype correlations, which would help with better genetic diagnosis, prognosis, and personalized treatment for CD patients.