FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3205399076> ?p ?o ?g. }

• W3205399076 endingPage "15" @default.
• W3205399076 startingPage "1" @default.
• W3205399076 abstract "Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study aimed to analyze the molecular profiles, associated ocular characteristics, and progression of RP in Korean patients.All the genetic variants in patients with RP, identified using targeted next-generation sequencing (NGS) with a panel of 88 RP-related genes between November 2018 and November 2019, were retrospectively reviewed. All the patients underwent comprehensive ophthalmological evaluations, and their clinical and family histories were recorded. The best-corrected visual acuity (BCVA) deterioration and photoreceptor disruption progression rates were determined based on the major causative mutational genes using nonlinear mixed models, and the differences among them were investigated using the interaction effect.Among the 144 probands, 82 variants in 24 causative genes were identified in 77 families (53.5%). Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). The four most frequently affected genes were EYS (N = 15 (10.4%)), USH2A (N = 12 (8.3%)), PDE6B (N = 9 (6.3%)), and RP1 (N = 8 (5.6%)). Epiretinal membranes and cystoid macular edema were frequently noted in the patients with USH2A (75.0%) and PDE6B (50.0%) variants, respectively. During the follow-up period, the BCVA and photoreceptor disruption changes were significantly different among the patients carrying the four common causative genes (P=0.014 and 0.034, resp.). Patients with PDE6B variants showed faster BCVA changes (0.2 LogMAR/10 years), and those with USH2A variants showed the fastest ellipsoid zone disruptions (-170.4 µm/year).In conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. Delineating clinical characteristics according to genetic variations may help clinicians identify subtype features and predict the clinical course of RP." @default.
• W3205399076 created "2021-10-25" @default.
• W3205399076 creator A5033857814 @default.
• W3205399076 creator A5044685974 @default.
• W3205399076 creator A5048382900 @default.
• W3205399076 creator A5050880690 @default.
• W3205399076 creator A5056408262 @default.
• W3205399076 date "2021-10-21" @default.
• W3205399076 modified "2023-10-14" @default.
• W3205399076 title "Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa" @default.
• W3205399076 cites W1530076913 @default.
• W3205399076 cites W193861083 @default.
• W3205399076 cites W1976808784 @default.
• W3205399076 cites W1977823409 @default.
• W3205399076 cites W1979818630 @default.
• W3205399076 cites W1984017781 @default.
• W3205399076 cites W1984225507 @default.
• W3205399076 cites W1995937464 @default.
• W3205399076 cites W2003325423 @default.
• W3205399076 cites W2007442376 @default.
• W3205399076 cites W2008851150 @default.
• W3205399076 cites W2029584153 @default.
• W3205399076 cites W2050911021 @default.
• W3205399076 cites W2051978340 @default.
• W3205399076 cites W2059498621 @default.
• W3205399076 cites W2061013265 @default.
• W3205399076 cites W2071108027 @default.
• W3205399076 cites W2075553024 @default.
• W3205399076 cites W2096832769 @default.
• W3205399076 cites W2118733049 @default.
• W3205399076 cites W2125634959 @default.
• W3205399076 cites W2144880199 @default.
• W3205399076 cites W2154960684 @default.
• W3205399076 cites W2171777347 @default.
• W3205399076 cites W2283684528 @default.
• W3205399076 cites W2320174469 @default.
• W3205399076 cites W2516923259 @default.
• W3205399076 cites W2765080153 @default.
• W3205399076 cites W2794919915 @default.
• W3205399076 cites W2802881564 @default.
• W3205399076 cites W2894611728 @default.
• W3205399076 cites W2922652434 @default.
• W3205399076 cites W2924410296 @default.
• W3205399076 cites W2942553675 @default.
• W3205399076 cites W2946863998 @default.
• W3205399076 cites W2995393315 @default.
• W3205399076 cites W2997379292 @default.
• W3205399076 cites W2998839126 @default.
• W3205399076 cites W4211099883 @default.
• W3205399076 cites W2913882257 @default.
• W3205399076 doi "https://doi.org/10.1155/2021/5067271" @default.
• W3205399076 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8553513" @default.
• W3205399076 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34721897" @default.
• W3205399076 hasPublicationYear "2021" @default.
• W3205399076 type Work @default.
• W3205399076 sameAs 3205399076 @default.
• W3205399076 citedByCount "6" @default.
• W3205399076 countsByYear W32053990762022 @default.
• W3205399076 countsByYear W32053990762023 @default.
• W3205399076 crossrefType "journal-article" @default.
• W3205399076 hasAuthorship W3205399076A5033857814 @default.
• W3205399076 hasAuthorship W3205399076A5044685974 @default.
• W3205399076 hasAuthorship W3205399076A5048382900 @default.
• W3205399076 hasAuthorship W3205399076A5050880690 @default.
• W3205399076 hasAuthorship W3205399076A5056408262 @default.
• W3205399076 hasBestOaLocation W32053990761 @default.
• W3205399076 hasConcept C104317684 @default.
• W3205399076 hasConcept C118487528 @default.
• W3205399076 hasConcept C127716648 @default.
• W3205399076 hasConcept C188997412 @default.
• W3205399076 hasConcept C2778257484 @default.
• W3205399076 hasConcept C2780347916 @default.
• W3205399076 hasConcept C2780827179 @default.
• W3205399076 hasConcept C2781114197 @default.
• W3205399076 hasConcept C501734568 @default.
• W3205399076 hasConcept C54355233 @default.
• W3205399076 hasConcept C71924100 @default.
• W3205399076 hasConcept C86803240 @default.
• W3205399076 hasConceptScore W3205399076C104317684 @default.
• W3205399076 hasConceptScore W3205399076C118487528 @default.
• W3205399076 hasConceptScore W3205399076C127716648 @default.
• W3205399076 hasConceptScore W3205399076C188997412 @default.
• W3205399076 hasConceptScore W3205399076C2778257484 @default.
• W3205399076 hasConceptScore W3205399076C2780347916 @default.
• W3205399076 hasConceptScore W3205399076C2780827179 @default.
• W3205399076 hasConceptScore W3205399076C2781114197 @default.
• W3205399076 hasConceptScore W3205399076C501734568 @default.
• W3205399076 hasConceptScore W3205399076C54355233 @default.
• W3205399076 hasConceptScore W3205399076C71924100 @default.
• W3205399076 hasConceptScore W3205399076C86803240 @default.
• W3205399076 hasFunder F4320322120 @default.
• W3205399076 hasLocation W32053990761 @default.
• W3205399076 hasLocation W32053990762 @default.
• W3205399076 hasLocation W32053990763 @default.
• W3205399076 hasLocation W32053990764 @default.
• W3205399076 hasLocation W32053990765 @default.
• W3205399076 hasOpenAccess W3205399076 @default.
• W3205399076 hasPrimaryLocation W32053990761 @default.

• next