FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310368217> ?p ?o ?g. }

• W4310368217 abstract "Abstract A randomized clinical trial that began in 1984 was conducted to determine the efficacy of vitamin A and E supplementation to reduce the rate of disease progression in patients with retinitis pigmentosa (RP). Vitamin A was shown to provide benefit while vitamin E had an adverse effect. Although genetic testing was unavailable at that time, banked DNA samples now provide the opportunity to combine modern genetic classifications with this extensively phenotyped longitudinal cohort. We hypothesized that the beneficial effects of vitamin A would vary by genetic subtype, and that the electroretinogram (ERG) 30Hz cone flicker implicit time could serve as a biomarker to predict disease progression. Existing genetic solutions or usable DNA samples were available for 96% of subjects. The overall genetic solution rate was 587/765 (77%) of sequenced samples. Combining genetic solutions with ERG outcomes produced a coherent dataset describing the natural history of RP among patients with multiple genetic causes of disease. There were systematic differences in severity and progression seen among different genetic subtypes of RP, confirming and extending findings made for disease caused by mutations in the most common causative genes, including USH2A, RHO, RPGR, PRPF31 , and EYS . Baseline 30Hz flicker implicit time was a strong predictor of progression rate. Analyses using additional data from the original trial in combination with using the implicit time as a predictive biomarker showed the deleterious effect of vitamin E on progression was still present, but surprisingly found that the effect of vitamin A progression in the cohort as a whole was not detectable. Adding additional subjects from later trials to increase power gave similar results. Subgroup analyses among the largest gene groups revealed a potential adverse effect of vitamin A supplementation in patients with disease due to mutations in the USH2A gene and a trend toward benefit in patients with the p.Pro23His mutation in the RHO gene, based only on small groups. This study also demonstrated how genetic subtype and implicit time have significant predictive power for a patient’s rate of progression, which is useful prognostically. Validation of implicit time as a biomarker of disease progression, as demonstrated in this large cohort, may help with subject selection and endpoint selection in clinical trials for future experimental therapies. While vitamin E supplementation should still be avoided, these data do not support a generalized neuroprotective effect of vitamin A for all types of RP." @default.
• W4310368217 created "2022-12-09" @default.
• W4310368217 creator A5001987528 @default.
• W4310368217 creator A5009511319 @default.
• W4310368217 creator A5016299939 @default.
• W4310368217 creator A5026056928 @default.
• W4310368217 creator A5035711783 @default.
• W4310368217 creator A5040250905 @default.
• W4310368217 creator A5045160040 @default.
• W4310368217 creator A5046753071 @default.
• W4310368217 creator A5048366850 @default.
• W4310368217 creator A5078827809 @default.
• W4310368217 date "2022-11-29" @default.
• W4310368217 modified "2023-10-15" @default.
• W4310368217 title "Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker" @default.
• W4310368217 cites W1484708228 @default.
• W4310368217 cites W1549938839 @default.
• W4310368217 cites W1676292531 @default.
• W4310368217 cites W1974571266 @default.
• W4310368217 cites W1979215777 @default.
• W4310368217 cites W1981791555 @default.
• W4310368217 cites W1994857261 @default.
• W4310368217 cites W1997760441 @default.
• W4310368217 cites W2002207830 @default.
• W4310368217 cites W2012169167 @default.
• W4310368217 cites W2020365931 @default.
• W4310368217 cites W2021550559 @default.
• W4310368217 cites W2030894970 @default.
• W4310368217 cites W2043011906 @default.
• W4310368217 cites W2044629444 @default.
• W4310368217 cites W2046197581 @default.
• W4310368217 cites W2047206983 @default.
• W4310368217 cites W2051978340 @default.
• W4310368217 cites W2053682749 @default.
• W4310368217 cites W2056716747 @default.
• W4310368217 cites W2079669146 @default.
• W4310368217 cites W2097781824 @default.
• W4310368217 cites W2119180969 @default.
• W4310368217 cites W2119662767 @default.
• W4310368217 cites W2121620960 @default.
• W4310368217 cites W2124115547 @default.
• W4310368217 cites W2127028174 @default.
• W4310368217 cites W2143197196 @default.
• W4310368217 cites W2149258239 @default.
• W4310368217 cites W2283684528 @default.
• W4310368217 cites W2337020324 @default.
• W4310368217 cites W2400144185 @default.
• W4310368217 cites W2556261073 @default.
• W4310368217 cites W2560101831 @default.
• W4310368217 cites W2752358437 @default.
• W4310368217 cites W2794654021 @default.
• W4310368217 cites W2799298391 @default.
• W4310368217 cites W2801760893 @default.
• W4310368217 cites W2806296050 @default.
• W4310368217 cites W2949773947 @default.
• W4310368217 cites W2983742483 @default.
• W4310368217 cites W2993879222 @default.
• W4310368217 cites W3004909908 @default.
• W4310368217 cites W3033542474 @default.
• W4310368217 cites W3048699379 @default.
• W4310368217 cites W3091952232 @default.
• W4310368217 cites W3122891282 @default.
• W4310368217 cites W3215985160 @default.
• W4310368217 cites W4205754721 @default.
• W4310368217 cites W4211099883 @default.
• W4310368217 cites W4220887607 @default.
• W4310368217 cites W4226498349 @default.
• W4310368217 cites W4249024179 @default.
• W4310368217 cites W4253565175 @default.
• W4310368217 cites W4254169031 @default.
• W4310368217 cites W4283693911 @default.
• W4310368217 doi "https://doi.org/10.1101/2022.11.26.22282587" @default.
• W4310368217 hasPublicationYear "2022" @default.
• W4310368217 type Work @default.
• W4310368217 citedByCount "0" @default.
• W4310368217 crossrefType "posted-content" @default.
• W4310368217 hasAuthorship W4310368217A5001987528 @default.
• W4310368217 hasAuthorship W4310368217A5009511319 @default.
• W4310368217 hasAuthorship W4310368217A5016299939 @default.
• W4310368217 hasAuthorship W4310368217A5026056928 @default.
• W4310368217 hasAuthorship W4310368217A5035711783 @default.
• W4310368217 hasAuthorship W4310368217A5040250905 @default.
• W4310368217 hasAuthorship W4310368217A5045160040 @default.
• W4310368217 hasAuthorship W4310368217A5046753071 @default.
• W4310368217 hasAuthorship W4310368217A5048366850 @default.
• W4310368217 hasAuthorship W4310368217A5078827809 @default.
• W4310368217 hasBestOaLocation W43103682171 @default.
• W4310368217 hasConcept C103796816 @default.
• W4310368217 hasConcept C104317684 @default.
• W4310368217 hasConcept C118487528 @default.
• W4310368217 hasConcept C126322002 @default.
• W4310368217 hasConcept C143998085 @default.
• W4310368217 hasConcept C2777551382 @default.
• W4310368217 hasConcept C2778004101 @default.
• W4310368217 hasConcept C2779134260 @default.
• W4310368217 hasConcept C2780827179 @default.
• W4310368217 hasConcept C2781114197 @default.
• W4310368217 hasConcept C2781197716 @default.
• W4310368217 hasConcept C54355233 @default.
• W4310368217 hasConcept C55493867 @default.

• next