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2018 1
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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CS …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Kim YJ, et al. Genes (Basel). 2021 Apr 30;12(5):675. doi: 10.3390/genes12050675. Genes (Basel). 2021. PMID: 33946315 Free PMC article.
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping....
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmol …
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W, He XD, Yang ZT, Han DM, Sun Y, Chen YX, Han XT, Guo SC, Ma YT, Jin X, Yang HM, Gao Y, Wang ZS, Li JK, He W. Li W, et al. Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):5. doi: 10.1167/iovs.64.2.5. Invest Ophthalmol Vis Sci. 2023. PMID: 36729443 Free PMC article.
The top 10 genes have a diagnostic yield of DNM greater than 3.5% in their subgroups, including PAX6 (40.00%), FBN1 (38.78%), RB1 (37.04%), CRX (10.34%), CHM (9.09%), WFS1 (8.00%), RP1L1 (5.88%), RS1 (5.26%), PCDH15 (4.00%), and ABCA4 (3.51%). Additionally, the incidence o …
The top 10 genes have a diagnostic yield of DNM greater than 3.5% in their subgroups, including PAX6 (40.00%), FBN1 (38.78%), RB1 (37.04%), …
X-Linked Retinoschisis.
Ku CA, Wei LW, Sieving PA. Ku CA, et al. Cold Spring Harb Perspect Med. 2023 Sep 1;13(9):a041288. doi: 10.1101/cshperspect.a041288. Cold Spring Harb Perspect Med. 2023. PMID: 36690462 Review.
When clinical electroretinogram (ERG) testing began in the 1960s, XLRS was noted to have a characteristic reduction of the dark-adapted b-wave amplitude despite normal or usually nearly normal a-wave amplitudes, which became known as the "electronegative ERG response" of XLRS dis …
When clinical electroretinogram (ERG) testing began in the 1960s, XLRS was noted to have a characteristic reduction of the dark-adapted b-wa …
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Heymann JB, Vijayasarathy C, Fariss RN, Sieving PA. Heymann JB, et al. Prog Retin Eye Res. 2023 Jul;95:101147. doi: 10.1016/j.preteyeres.2022.101147. Epub 2022 Nov 16. Prog Retin Eye Res. 2023. PMID: 36402656 Review.
Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the retina. ...We discuss these models in light of RS1 structure and address the difficulty in understanding the function of RS1....
Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the retina. ...We discuss these model …
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S, Sun W, Xiao X, Li S, Luo H, Jia X, Ouyang J, Li X, Wang Y, Jiang Y, Wang P, Zhang Q. Xiao S, et al. Br J Ophthalmol. 2023 Mar;107(3):367-372. doi: 10.1136/bjophthalmol-2021-319668. Epub 2021 Oct 13. Br J Ophthalmol. 2023. PMID: 34645606
BACKGROUND/AIMS: X-linked retinoschisis (XLRS), associated with RS1, is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with RS1 variants in China. METHODS: RS1 …
BACKGROUND/AIMS: X-linked retinoschisis (XLRS), associated with RS1, is the most common type of X-linked retinopathy in children. Thi …
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci GM. Fortunato P, et al. Ophthalmic Genet. 2023 Feb;44(1):35-42. doi: 10.1080/13816810.2022.2141790. Epub 2022 Nov 15. Ophthalmic Genet. 2023. PMID: 36377647 Review.
BACKGROUND: X-linked juvenile retinoschisis (LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ranging from severe early-onset defects to subtle abnormalities diagnosed in elderly patients. XLRS is caused by a loss of function of the prot …
BACKGROUND: X-linked juvenile retinoschisis (LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ran …
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and …
The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were P …
Retinoschisis and Norrie disease: a missing link.
Rajendran R, Sudha D, Chidambaram S, Nagarajan H, Vetrivel U, Arunachalam JP. Rajendran R, et al. BMC Res Notes. 2021 May 26;14(1):204. doi: 10.1186/s13104-021-05617-5. BMC Res Notes. 2021. PMID: 34039417 Free PMC article.
Yet, the exact molecular relationships between the two disorders have still not been understood. The study investigated the association between retinoschisin (RS1) and norrin (NDP) using in vitro and in silico approaches. ...RESULT: Co-immunoprecipitation demonstrat …
Yet, the exact molecular relationships between the two disorders have still not been understood. The study investigated the association betw …
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa María L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Ramond F, et al. Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549593 Free article.
Experimental studies showed that these variants decreased the expression of the canonical Tra2beta-1 isoform, whereas they increased the expression of the Tra2beta-3 isoform, which is shorter and lacks the N-terminal RS1 domain. Increased expression of Tra2beta-3-GFP were …
Experimental studies showed that these variants decreased the expression of the canonical Tra2beta-1 isoform, whereas they increased the exp …
64 results