FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3107642609> ?p ?o ?g. }

• W3107642609 abstract "Abstract Purpose To identify the pathogenic variants associated with POAG by using Whole Exome Sequencing (WES) data of a large South Indian family. Methods We recruited a large five generation of South Indian family (n=84) with positive family history of POAG. All study participants had comprehensive ocular evaluation (of the 84, 19 study subjects were diagnosed as POAG). Sanger sequencing of the candidate genes associated with POAG ( MYOC, OPTN and TBK1 ) showed no genetic variation in the POAG affected family members. Therefore, we performed whole exome sequencing (WES) for 16 samples including (9 POAG and 7 unaffected controls) and the data was analysed using an in-house pipeline for prioritizing the pathogenic variants based on its segregation among the POAG individual. Results We identified one novel and five low-frequency pathogenic variants with consistent co-segregation in all affected individuals. The variant c.G3719A in RPGR-interacting domain of RPGRIP1 that segregated heterozygously with the six POAG cases is distinct from variants causing photoreceptor dystrophies, reported to affect the RPGR protein complex signaling in primary cilia. The cilia in TM cells has been reported to mediate the intraocular pressure (IOP) sensation. Furthermore, we identified a novel c.A1295G variant in Rho guanine nucleotide exchange factors Gene 40 (ARHGEF40) and likely pathogenic variant in the RPGR gene, suggesting that they may alter the RhoA activity essential for IOP regulation Conclusion Our study supports that low-frequency pathogenic variants in multiple genes and pathways probably affect the pathogenesis of Primary Open Angle Glaucoma in the large South Indian family." @default.
• W3107642609 created "2020-12-07" @default.
• W3107642609 creator A5003699270 @default.
• W3107642609 creator A5027270670 @default.
• W3107642609 creator A5044190044 @default.
• W3107642609 creator A5044432173 @default.
• W3107642609 creator A5049509531 @default.
• W3107642609 creator A5049705665 @default.
• W3107642609 creator A5067461811 @default.
• W3107642609 creator A5089763138 @default.
• W3107642609 date "2020-09-23" @default.
• W3107642609 modified "2023-10-18" @default.
• W3107642609 title "Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle Glaucoma" @default.
• W3107642609 cites W1520573781 @default.
• W3107642609 cites W1984068087 @default.
• W3107642609 cites W1995762981 @default.
• W3107642609 cites W1996017044 @default.
• W3107642609 cites W1999756851 @default.
• W3107642609 cites W2005163732 @default.
• W3107642609 cites W2027673202 @default.
• W3107642609 cites W2030620933 @default.
• W3107642609 cites W2031227357 @default.
• W3107642609 cites W2040342874 @default.
• W3107642609 cites W2051417851 @default.
• W3107642609 cites W2057266151 @default.
• W3107642609 cites W2061238224 @default.
• W3107642609 cites W2075286956 @default.
• W3107642609 cites W2075748772 @default.
• W3107642609 cites W2086882575 @default.
• W3107642609 cites W2095948570 @default.
• W3107642609 cites W2100159037 @default.
• W3107642609 cites W2105784826 @default.
• W3107642609 cites W2106523452 @default.
• W3107642609 cites W2109542778 @default.
• W3107642609 cites W2116073256 @default.
• W3107642609 cites W2118094114 @default.
• W3107642609 cites W2118286472 @default.
• W3107642609 cites W2122040545 @default.
• W3107642609 cites W2123248067 @default.
• W3107642609 cites W2123277947 @default.
• W3107642609 cites W2132378360 @default.
• W3107642609 cites W2142133030 @default.
• W3107642609 cites W2142283589 @default.
• W3107642609 cites W2154886355 @default.
• W3107642609 cites W2160605010 @default.
• W3107642609 cites W2463542013 @default.
• W3107642609 cites W2468887307 @default.
• W3107642609 hasPublicationYear "2020" @default.
• W3107642609 type Work @default.
• W3107642609 sameAs 3107642609 @default.
• W3107642609 citedByCount "0" @default.
• W3107642609 crossrefType "posted-content" @default.
• W3107642609 hasAuthorship W3107642609A5003699270 @default.
• W3107642609 hasAuthorship W3107642609A5027270670 @default.
• W3107642609 hasAuthorship W3107642609A5044190044 @default.
• W3107642609 hasAuthorship W3107642609A5044432173 @default.
• W3107642609 hasAuthorship W3107642609A5049509531 @default.
• W3107642609 hasAuthorship W3107642609A5049705665 @default.
• W3107642609 hasAuthorship W3107642609A5067461811 @default.
• W3107642609 hasAuthorship W3107642609A5089763138 @default.
• W3107642609 hasBestOaLocation W31076426091 @default.
• W3107642609 hasConcept C104317684 @default.
• W3107642609 hasConcept C118487528 @default.
• W3107642609 hasConcept C16671776 @default.
• W3107642609 hasConcept C2778527774 @default.
• W3107642609 hasConcept C2991803831 @default.
• W3107642609 hasConcept C501734568 @default.
• W3107642609 hasConcept C51679486 @default.
• W3107642609 hasConcept C54355233 @default.
• W3107642609 hasConcept C60644358 @default.
• W3107642609 hasConcept C69991583 @default.
• W3107642609 hasConcept C71924100 @default.
• W3107642609 hasConcept C76818968 @default.
• W3107642609 hasConcept C86803240 @default.
• W3107642609 hasConceptScore W3107642609C104317684 @default.
• W3107642609 hasConceptScore W3107642609C118487528 @default.
• W3107642609 hasConceptScore W3107642609C16671776 @default.
• W3107642609 hasConceptScore W3107642609C2778527774 @default.
• W3107642609 hasConceptScore W3107642609C2991803831 @default.
• W3107642609 hasConceptScore W3107642609C501734568 @default.
• W3107642609 hasConceptScore W3107642609C51679486 @default.
• W3107642609 hasConceptScore W3107642609C54355233 @default.
• W3107642609 hasConceptScore W3107642609C60644358 @default.
• W3107642609 hasConceptScore W3107642609C69991583 @default.
• W3107642609 hasConceptScore W3107642609C71924100 @default.
• W3107642609 hasConceptScore W3107642609C76818968 @default.
• W3107642609 hasConceptScore W3107642609C86803240 @default.
• W3107642609 hasLocation W31076426091 @default.
• W3107642609 hasLocation W31076426092 @default.
• W3107642609 hasOpenAccess W3107642609 @default.
• W3107642609 hasPrimaryLocation W31076426091 @default.
• W3107642609 hasRelatedWork W11394837 @default.
• W3107642609 hasRelatedWork W15321794 @default.
• W3107642609 hasRelatedWork W16188709 @default.
• W3107642609 hasRelatedWork W16761532 @default.
• W3107642609 hasRelatedWork W2268362 @default.
• W3107642609 hasRelatedWork W25389007 @default.
• W3107642609 hasRelatedWork W30110277 @default.
• W3107642609 hasRelatedWork W37255374 @default.
• W3107642609 hasRelatedWork W19856601 @default.

• next