FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386242789> ?p ?o ?g. }

• W4386242789 endingPage "266" @default.
• W4386242789 startingPage "258" @default.
• W4386242789 abstract "Background: Retinitis pigmentosa (RP) is a complex inherited and progressive degenerative retinal disease. The eyes shut homolog (EYS) is frequently associated with RP is surprisingly high. Exploring the function of EYS is quite difficult due to the unique gene size and species specificity. Gene therapy may provide a breakthrough to treat this disease. Therefore, exploring and clarifying pathogenic mutations of EYS-associated RP has important guiding significance for clinical treatment. Methods: Clinical and molecular genetic data for EYS-associated RP were retrospectively analyzed. Sanger sequencing was applied to identify novel mutations in these patients. Candidate pathogenic variants were subsequently evaluated using bioinformatic tools. Results: A novel pair of compound heterozygous mutations was identified: a novel stop-gain mutation c.2439C>A (p.C813fsX) and a frameshift deletion mutation c.6714delT (p. P2238fsX) of the EYS gene in the RP family. Both of these mutations were rare or absent in the 1000 Genomes Project, dbSNP, and Genome Aggregation Database (gnomAD). These two mutations would result in a lack of multiple functionally important epidermal growth factor-like and Laminin G-like coding regions in EYS. Conclusions: A novel compound heterozygote of the EYS gene in a Chinese family with an autosomal inheritance pattern of RP was identified. Identifying more pathogenic mutations and expanding the mutation spectrum of the EYS gene will contribute to a more comprehensive understanding of the molecular pathogenesis of RP disease that could be gained in the future. It also could provide an important basis for the diagnosis, clinical management, and genetic counseling of the disease." @default.
• W4386242789 created "2023-08-30" @default.
• W4386242789 creator A5019916222 @default.
• W4386242789 creator A5020746135 @default.
• W4386242789 creator A5021813420 @default.
• W4386242789 creator A5024466016 @default.
• W4386242789 creator A5035772816 @default.
• W4386242789 creator A5037206120 @default.
• W4386242789 creator A5083484479 @default.
• W4386242789 creator A5086616039 @default.
• W4386242789 date "2023-08-01" @default.
• W4386242789 modified "2023-09-30" @default.
• W4386242789 title "A Novel Pair of Compound Heterozygous Mutation of <i>EYS</i> in a Han Chinese Family with Retinitis Pigmentosa" @default.
• W4386242789 cites W1503104403 @default.
• W4386242789 cites W1987617961 @default.
• W4386242789 cites W2005308131 @default.
• W4386242789 cites W2010113896 @default.
• W4386242789 cites W2033528471 @default.
• W4386242789 cites W2048505879 @default.
• W4386242789 cites W2063796050 @default.
• W4386242789 cites W2066396834 @default.
• W4386242789 cites W2112437019 @default.
• W4386242789 cites W2117633981 @default.
• W4386242789 cites W2149738882 @default.
• W4386242789 cites W2158624339 @default.
• W4386242789 cites W2166222667 @default.
• W4386242789 cites W2166621376 @default.
• W4386242789 cites W2335860304 @default.
• W4386242789 cites W2530588745 @default.
• W4386242789 cites W2555695501 @default.
• W4386242789 cites W2605184278 @default.
• W4386242789 cites W2735227029 @default.
• W4386242789 cites W2776913986 @default.
• W4386242789 cites W2793090218 @default.
• W4386242789 cites W2800466898 @default.
• W4386242789 cites W2883839056 @default.
• W4386242789 cites W2905895959 @default.
• W4386242789 cites W3013414239 @default.
• W4386242789 cites W3026569504 @default.
• W4386242789 cites W3092824307 @default.
• W4386242789 cites W3122125792 @default.
• W4386242789 cites W4211099883 @default.
• W4386242789 doi "https://doi.org/10.1089/gtmb.2023.0016" @default.
• W4386242789 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37643323" @default.
• W4386242789 hasPublicationYear "2023" @default.
• W4386242789 type Work @default.
• W4386242789 citedByCount "0" @default.
• W4386242789 crossrefType "journal-article" @default.
• W4386242789 hasAuthorship W4386242789A5019916222 @default.
• W4386242789 hasAuthorship W4386242789A5020746135 @default.
• W4386242789 hasAuthorship W4386242789A5021813420 @default.
• W4386242789 hasAuthorship W4386242789A5024466016 @default.
• W4386242789 hasAuthorship W4386242789A5035772816 @default.
• W4386242789 hasAuthorship W4386242789A5037206120 @default.
• W4386242789 hasAuthorship W4386242789A5083484479 @default.
• W4386242789 hasAuthorship W4386242789A5086616039 @default.
• W4386242789 hasConcept C104317684 @default.
• W4386242789 hasConcept C12125453 @default.
• W4386242789 hasConcept C135763542 @default.
• W4386242789 hasConcept C153209595 @default.
• W4386242789 hasConcept C2781114197 @default.
• W4386242789 hasConcept C29906990 @default.
• W4386242789 hasConcept C2994225774 @default.
• W4386242789 hasConcept C35794970 @default.
• W4386242789 hasConcept C501734568 @default.
• W4386242789 hasConcept C54355233 @default.
• W4386242789 hasConcept C71924100 @default.
• W4386242789 hasConcept C76818968 @default.
• W4386242789 hasConcept C86803240 @default.
• W4386242789 hasConceptScore W4386242789C104317684 @default.
• W4386242789 hasConceptScore W4386242789C12125453 @default.
• W4386242789 hasConceptScore W4386242789C135763542 @default.
• W4386242789 hasConceptScore W4386242789C153209595 @default.
• W4386242789 hasConceptScore W4386242789C2781114197 @default.
• W4386242789 hasConceptScore W4386242789C29906990 @default.
• W4386242789 hasConceptScore W4386242789C2994225774 @default.
• W4386242789 hasConceptScore W4386242789C35794970 @default.
• W4386242789 hasConceptScore W4386242789C501734568 @default.
• W4386242789 hasConceptScore W4386242789C54355233 @default.
• W4386242789 hasConceptScore W4386242789C71924100 @default.
• W4386242789 hasConceptScore W4386242789C76818968 @default.
• W4386242789 hasConceptScore W4386242789C86803240 @default.
• W4386242789 hasIssue "8" @default.
• W4386242789 hasLocation W43862427891 @default.
• W4386242789 hasLocation W43862427892 @default.
• W4386242789 hasOpenAccess W4386242789 @default.
• W4386242789 hasPrimaryLocation W43862427891 @default.
• W4386242789 hasRelatedWork W1969897382 @default.
• W4386242789 hasRelatedWork W2412378213 @default.
• W4386242789 hasRelatedWork W2787928727 @default.
• W4386242789 hasRelatedWork W2791114972 @default.
• W4386242789 hasRelatedWork W2800466898 @default.
• W4386242789 hasRelatedWork W2811290414 @default.
• W4386242789 hasRelatedWork W2901605975 @default.
• W4386242789 hasRelatedWork W2971812240 @default.
• W4386242789 hasRelatedWork W3024168541 @default.
• W4386242789 hasRelatedWork W3205519658 @default.
• W4386242789 hasVolume "27" @default.

• next