FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023522536> ?p ?o ?g. }

• W2023522536 endingPage "218" @default.
• W2023522536 startingPage "210" @default.
• W2023522536 abstract "Various forms of hearing loss have genetic causes, but many of the responsible genes have not yet been identified. Here, we describe a large seven-generation Chinese family with autosomal dominant nonsyndromic hearing loss that has been excluded as being caused by known deafness gene mutations associated with autosomal dominant nonsyndromic hearing loss with the aim of identifying a novel causative gene involved in deafness.Whole-exome sequencing was conducted in three affected family members, and cosegregation analysis was performed on other members of the family.Whole-exome sequencing and subsequent segregation analysis identified a heterozygous frameshift mutation (c.153_154delCT, p.Gln53Argfs*100) in the oxysterol binding protein-like 2 (OSBPL2) gene in 25 affected family members. The deletion mutation is predicted to lead to premature truncation of the OSBPL2 protein. Modeling and structure-based analysis support the theory that this gene deletion is functionally deleterious. Our finding was further confirmed by the detection of another missense mutation, a c.583C>A transversion (p.Leu195Met) in exon 7 of OSBPL2, in an additional sporadic case of deafness.Based on this study, OSBPL2 was identified as an excellent novel candidate gene for autosomal dominant nonsyndromic hearing loss; this study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss." @default.
• W2023522536 created "2016-06-24" @default.
• W2023522536 creator A5002347726 @default.
• W2023522536 creator A5011002074 @default.
• W2023522536 creator A5017473929 @default.
• W2023522536 creator A5018284299 @default.
• W2023522536 creator A5038522086 @default.
• W2023522536 creator A5042026897 @default.
• W2023522536 creator A5043898671 @default.
• W2023522536 creator A5050257965 @default.
• W2023522536 creator A5056169325 @default.
• W2023522536 creator A5072345893 @default.
• W2023522536 creator A5087959181 @default.
• W2023522536 date "2015-03-01" @default.
• W2023522536 modified "2023-10-15" @default.
• W2023522536 title "Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing" @default.
• W2023522536 cites W1509346516 @default.
• W2023522536 cites W1911203599 @default.
• W2023522536 cites W1968771604 @default.
• W2023522536 cites W1973878786 @default.
• W2023522536 cites W1981153350 @default.
• W2023522536 cites W1993014681 @default.
• W2023522536 cites W1998492114 @default.
• W2023522536 cites W1999545514 @default.
• W2023522536 cites W2000766568 @default.
• W2023522536 cites W2011123221 @default.
• W2023522536 cites W2012139185 @default.
• W2023522536 cites W2015964534 @default.
• W2023522536 cites W2031881762 @default.
• W2023522536 cites W2036210716 @default.
• W2023522536 cites W2039783092 @default.
• W2023522536 cites W2047573503 @default.
• W2023522536 cites W2057726003 @default.
• W2023522536 cites W2058080924 @default.
• W2023522536 cites W2058551070 @default.
• W2023522536 cites W2068526264 @default.
• W2023522536 cites W2070214412 @default.
• W2023522536 cites W2074514663 @default.
• W2023522536 cites W2091883601 @default.
• W2023522536 cites W2095624452 @default.
• W2023522536 cites W2102982140 @default.
• W2023522536 cites W2112001822 @default.
• W2023522536 cites W2112283367 @default.
• W2023522536 cites W2126682091 @default.
• W2023522536 cites W2128525425 @default.
• W2023522536 cites W2131765400 @default.
• W2023522536 cites W2140872369 @default.
• W2023522536 cites W2156351566 @default.
• W2023522536 cites W2159756099 @default.
• W2023522536 cites W2161931668 @default.
• W2023522536 cites W2163479134 @default.
• W2023522536 cites W2165169778 @default.
• W2023522536 cites W2166674758 @default.
• W2023522536 cites W2168434422 @default.
• W2023522536 doi "https://doi.org/10.1038/gim.2014.90" @default.
• W2023522536 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25077649" @default.
• W2023522536 hasPublicationYear "2015" @default.
• W2023522536 type Work @default.
• W2023522536 sameAs 2023522536 @default.
• W2023522536 citedByCount "49" @default.
• W2023522536 countsByYear W20235225362015 @default.
• W2023522536 countsByYear W20235225362016 @default.
• W2023522536 countsByYear W20235225362017 @default.
• W2023522536 countsByYear W20235225362018 @default.
• W2023522536 countsByYear W20235225362019 @default.
• W2023522536 countsByYear W20235225362020 @default.
• W2023522536 countsByYear W20235225362021 @default.
• W2023522536 countsByYear W20235225362022 @default.
• W2023522536 countsByYear W20235225362023 @default.
• W2023522536 crossrefType "journal-article" @default.
• W2023522536 hasAuthorship W2023522536A5002347726 @default.
• W2023522536 hasAuthorship W2023522536A5011002074 @default.
• W2023522536 hasAuthorship W2023522536A5017473929 @default.
• W2023522536 hasAuthorship W2023522536A5018284299 @default.
• W2023522536 hasAuthorship W2023522536A5038522086 @default.
• W2023522536 hasAuthorship W2023522536A5042026897 @default.
• W2023522536 hasAuthorship W2023522536A5043898671 @default.
• W2023522536 hasAuthorship W2023522536A5050257965 @default.
• W2023522536 hasAuthorship W2023522536A5056169325 @default.
• W2023522536 hasAuthorship W2023522536A5072345893 @default.
• W2023522536 hasAuthorship W2023522536A5087959181 @default.
• W2023522536 hasBestOaLocation W20235225361 @default.
• W2023522536 hasConcept C104317684 @default.
• W2023522536 hasConcept C10590036 @default.
• W2023522536 hasConcept C16671776 @default.
• W2023522536 hasConcept C2780493683 @default.
• W2023522536 hasConcept C29906990 @default.
• W2023522536 hasConcept C36823959 @default.
• W2023522536 hasConcept C501734568 @default.
• W2023522536 hasConcept C54355233 @default.
• W2023522536 hasConcept C548259974 @default.
• W2023522536 hasConcept C69991583 @default.
• W2023522536 hasConcept C71924100 @default.
• W2023522536 hasConcept C75563809 @default.
• W2023522536 hasConcept C86803240 @default.
• W2023522536 hasConceptScore W2023522536C104317684 @default.
• W2023522536 hasConceptScore W2023522536C10590036 @default.
• W2023522536 hasConceptScore W2023522536C16671776 @default.

• next