FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2063106792> ?p ?o ?g. }

• W2063106792 endingPage "101" @default.
• W2063106792 startingPage "98" @default.
• W2063106792 abstract "Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. Pejvakin is involved in generating auditory and neural signals in the inner ear. We have identified a consanguineous Pakistani family segregating sensorineural progressive hearing loss as a recessive trait, consistent with linkage to DFNB59. We sequenced PJVK and identified a novel missense mutation, c.1028G>C in exon 7 (p.C343S) co-segregating with the phenotype in the family. The p.C343 residue is fully conserved among orthologs from different vertebrate species. We have also determined that mutations in PJVK are not a common cause of hearing loss in families with moderate to severe hearing loss in Pakistan. This is the first report of PJVK mutation in a Pakistani family and pinpoints an important residue for PJVK function." @default.
• W2063106792 created "2016-06-24" @default.
• W2063106792 creator A5006521712 @default.
• W2063106792 creator A5030618085 @default.
• W2063106792 creator A5036515861 @default.
• W2063106792 creator A5037150403 @default.
• W2063106792 date "2012-08-01" @default.
• W2063106792 modified "2023-10-14" @default.
• W2063106792 title "A p.C343S missense mutation in PJVK causes progressive hearing loss" @default.
• W2063106792 cites W1503465019 @default.
• W2063106792 cites W1968470805 @default.
• W2063106792 cites W1986338824 @default.
• W2063106792 cites W1993952092 @default.
• W2063106792 cites W2009018206 @default.
• W2063106792 cites W2015527888 @default.
• W2063106792 cites W2016905295 @default.
• W2063106792 cites W2029970476 @default.
• W2063106792 cites W2035947048 @default.
• W2063106792 cites W2037232726 @default.
• W2063106792 cites W2038727936 @default.
• W2063106792 cites W2061515825 @default.
• W2063106792 cites W2066436520 @default.
• W2063106792 cites W2089956906 @default.
• W2063106792 cites W2105220668 @default.
• W2063106792 cites W2125828901 @default.
• W2063106792 cites W2132377455 @default.
• W2063106792 cites W2148316123 @default.
• W2063106792 cites W2153057807 @default.
• W2063106792 cites W4245583015 @default.
• W2063106792 doi "https://doi.org/10.1016/j.gene.2012.05.013" @default.
• W2063106792 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3534776" @default.
• W2063106792 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22617256" @default.
• W2063106792 hasPublicationYear "2012" @default.
• W2063106792 type Work @default.
• W2063106792 sameAs 2063106792 @default.
• W2063106792 citedByCount "24" @default.
• W2063106792 countsByYear W20631067922013 @default.
• W2063106792 countsByYear W20631067922014 @default.
• W2063106792 countsByYear W20631067922015 @default.
• W2063106792 countsByYear W20631067922017 @default.
• W2063106792 countsByYear W20631067922018 @default.
• W2063106792 countsByYear W20631067922019 @default.
• W2063106792 countsByYear W20631067922020 @default.
• W2063106792 countsByYear W20631067922021 @default.
• W2063106792 countsByYear W20631067922022 @default.
• W2063106792 countsByYear W20631067922023 @default.
• W2063106792 crossrefType "journal-article" @default.
• W2063106792 hasAuthorship W2063106792A5006521712 @default.
• W2063106792 hasAuthorship W2063106792A5030618085 @default.
• W2063106792 hasAuthorship W2063106792A5036515861 @default.
• W2063106792 hasAuthorship W2063106792A5037150403 @default.
• W2063106792 hasBestOaLocation W20631067922 @default.
• W2063106792 hasConcept C104317684 @default.
• W2063106792 hasConcept C105951970 @default.
• W2063106792 hasConcept C127716648 @default.
• W2063106792 hasConcept C2780493683 @default.
• W2063106792 hasConcept C2780607864 @default.
• W2063106792 hasConcept C36823959 @default.
• W2063106792 hasConcept C501734568 @default.
• W2063106792 hasConcept C54355233 @default.
• W2063106792 hasConcept C548259974 @default.
• W2063106792 hasConcept C64618202 @default.
• W2063106792 hasConcept C71924100 @default.
• W2063106792 hasConcept C75563809 @default.
• W2063106792 hasConcept C84597430 @default.
• W2063106792 hasConcept C86803240 @default.
• W2063106792 hasConceptScore W2063106792C104317684 @default.
• W2063106792 hasConceptScore W2063106792C105951970 @default.
• W2063106792 hasConceptScore W2063106792C127716648 @default.
• W2063106792 hasConceptScore W2063106792C2780493683 @default.
• W2063106792 hasConceptScore W2063106792C2780607864 @default.
• W2063106792 hasConceptScore W2063106792C36823959 @default.
• W2063106792 hasConceptScore W2063106792C501734568 @default.
• W2063106792 hasConceptScore W2063106792C54355233 @default.
• W2063106792 hasConceptScore W2063106792C548259974 @default.
• W2063106792 hasConceptScore W2063106792C64618202 @default.
• W2063106792 hasConceptScore W2063106792C71924100 @default.
• W2063106792 hasConceptScore W2063106792C75563809 @default.
• W2063106792 hasConceptScore W2063106792C84597430 @default.
• W2063106792 hasConceptScore W2063106792C86803240 @default.
• W2063106792 hasIssue "1" @default.
• W2063106792 hasLocation W20631067921 @default.
• W2063106792 hasLocation W20631067922 @default.
• W2063106792 hasLocation W20631067923 @default.
• W2063106792 hasLocation W20631067924 @default.
• W2063106792 hasOpenAccess W2063106792 @default.
• W2063106792 hasPrimaryLocation W20631067921 @default.
• W2063106792 hasRelatedWork W1973942562 @default.
• W2063106792 hasRelatedWork W2060169551 @default.
• W2063106792 hasRelatedWork W2063106792 @default.
• W2063106792 hasRelatedWork W2258430434 @default.
• W2063106792 hasRelatedWork W2349400098 @default.
• W2063106792 hasRelatedWork W2350102540 @default.
• W2063106792 hasRelatedWork W2362650105 @default.
• W2063106792 hasRelatedWork W2409341427 @default.
• W2063106792 hasRelatedWork W3200785218 @default.
• W2063106792 hasRelatedWork W4315620081 @default.
• W2063106792 hasVolume "504" @default.

• next