FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4293491746> ?p ?o ?g. }

• W4293491746 endingPage "321903" @default.
• W4293491746 startingPage "bjophthalmol" @default.
• W4293491746 abstract "Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for the last decade, providing a useful platform to test novel therapeutic approaches. More than 40 clinical trials have been completed or are ongoing, tackling autosomal recessive and X-linked conditions, mostly through adeno-associated viral vector delivery of a normal copy of the disease-causing gene. However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin (RHO)-associated retinitis pigmentosa (RP), implementing antisense oligonucleotide (AON) therapy, with promising preliminary results (NCT04123626).Autosomal dominant RP represents 15%-25% of all RP, with RHO accounting for 20%-30% of these cases. Autosomal dominant macular and cone-rod dystrophies (MD/CORD) correspond to approximately 7.5% of all IRDs, and approximately 35% of all MD/CORD cases, with the main causative gene being BEST1 Autosomal dominant IRDs are not only less frequent than recessive, but also tend to be less severe and have later onset; for example, an individual with RHO-adRP would typically become severely visually impaired at an age 2-3 times older than in X-linked RPGR-RP.Gain-of-function and dominant negative aetiologies are frequently seen in the prevalent adRP genes RHO, RP1 and PRPF31 among others, which would not be effectively addressed by gene supplementation alone and need creative, novel approaches. Zinc fingers, RNA interference, AON, translational read-through therapy, and gene editing by clustered regularly interspaced short palindromic repeats/Cas are some of the strategies that are currently under investigation and will be discussed here." @default.
• W4293491746 created "2022-08-29" @default.
• W4293491746 creator A5011962092 @default.
• W4293491746 creator A5077508604 @default.
• W4293491746 creator A5087735317 @default.
• W4293491746 date "2022-08-29" @default.
• W4293491746 modified "2023-10-05" @default.
• W4293491746 title "Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes" @default.
• W4293491746 cites W1519589097 @default.
• W4293491746 cites W1562615854 @default.
• W4293491746 cites W1589408448 @default.
• W4293491746 cites W176721406 @default.
• W4293491746 cites W1924139413 @default.
• W4293491746 cites W1956398723 @default.
• W4293491746 cites W1957554463 @default.
• W4293491746 cites W1966712770 @default.
• W4293491746 cites W1969461625 @default.
• W4293491746 cites W1969529794 @default.
• W4293491746 cites W1969878471 @default.
• W4293491746 cites W1970286448 @default.
• W4293491746 cites W1972550456 @default.
• W4293491746 cites W1982607295 @default.
• W4293491746 cites W1987159598 @default.
• W4293491746 cites W1990208195 @default.
• W4293491746 cites W1991678441 @default.
• W4293491746 cites W1992982574 @default.
• W4293491746 cites W1994621182 @default.
• W4293491746 cites W1994857261 @default.
• W4293491746 cites W2007127198 @default.
• W4293491746 cites W2013410637 @default.
• W4293491746 cites W2017471396 @default.
• W4293491746 cites W2018197169 @default.
• W4293491746 cites W2021371090 @default.
• W4293491746 cites W2035236902 @default.
• W4293491746 cites W2036522291 @default.
• W4293491746 cites W2039527297 @default.
• W4293491746 cites W2039830515 @default.
• W4293491746 cites W2041099386 @default.
• W4293491746 cites W2045323844 @default.
• W4293491746 cites W2046034472 @default.
• W4293491746 cites W2050384954 @default.
• W4293491746 cites W2053091835 @default.
• W4293491746 cites W2055198588 @default.
• W4293491746 cites W2056922888 @default.
• W4293491746 cites W2064815984 @default.
• W4293491746 cites W2065742368 @default.
• W4293491746 cites W2066768357 @default.
• W4293491746 cites W2071123787 @default.
• W4293491746 cites W2074202884 @default.
• W4293491746 cites W2083729128 @default.
• W4293491746 cites W2088430903 @default.
• W4293491746 cites W2097664895 @default.
• W4293491746 cites W2098031003 @default.
• W4293491746 cites W2100844463 @default.
• W4293491746 cites W2101932766 @default.
• W4293491746 cites W2106789249 @default.
• W4293491746 cites W2114049306 @default.
• W4293491746 cites W2127923732 @default.
• W4293491746 cites W2129227380 @default.
• W4293491746 cites W2129369040 @default.
• W4293491746 cites W2131278871 @default.
• W4293491746 cites W2131541488 @default.
• W4293491746 cites W2132137212 @default.
• W4293491746 cites W2133593596 @default.
• W4293491746 cites W2137101268 @default.
• W4293491746 cites W2152090260 @default.
• W4293491746 cites W2153806919 @default.
• W4293491746 cites W2155155386 @default.
• W4293491746 cites W2155349225 @default.
• W4293491746 cites W2158008875 @default.
• W4293491746 cites W2160252651 @default.
• W4293491746 cites W2164232178 @default.
• W4293491746 cites W2168154815 @default.
• W4293491746 cites W2168345599 @default.
• W4293491746 cites W2199356015 @default.
• W4293491746 cites W2281379279 @default.
• W4293491746 cites W2282411661 @default.
• W4293491746 cites W2337020324 @default.
• W4293491746 cites W2510402654 @default.
• W4293491746 cites W2521061485 @default.
• W4293491746 cites W2572978017 @default.
• W4293491746 cites W2602144059 @default.
• W4293491746 cites W2620518508 @default.
• W4293491746 cites W2778853949 @default.
• W4293491746 cites W2779736613 @default.
• W4293491746 cites W2782689024 @default.
• W4293491746 cites W2791435341 @default.
• W4293491746 cites W2792151410 @default.
• W4293491746 cites W2792615945 @default.
• W4293491746 cites W2793264310 @default.
• W4293491746 cites W2800515343 @default.
• W4293491746 cites W2802665497 @default.
• W4293491746 cites W2811282664 @default.
• W4293491746 cites W2894399138 @default.
• W4293491746 cites W2897873128 @default.
• W4293491746 cites W2904069350 @default.
• W4293491746 cites W2906446928 @default.
• W4293491746 cites W2909801889 @default.

• next