FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2052783288> ?p ?o ?g. }

• W2052783288 endingPage "303" @default.
• W2052783288 startingPage "299" @default.
• W2052783288 abstract "Purpose: To determine whether mutations in the optineurin (OPTN) gene are associated with the incidence of primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG) in the Japanese. Methods: Eighty-nine unrelated Japanese patients with POAG and 65 unrelated patients with NTG were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and thirteen exons of the OPTN gene were amplified by polymerase chain reaction (PCR) and directly sequenced. Results: Sequence alterations in exons 4 (His26Asp), 5 (Met98Lys), and 16 (Arg545Gln) were found. The His26Asp and Arg545Gln mutations were not detected in 100 ethnically matched controls. The frequency of the missense Met98Lys variant was higher in the POAG and NTG groups than in the control group (16.9% versus 5%, 15.4% versus 5%; P = 0.009 and P = 0.029, and odds ratio 3.85 and 3.45, respectively, for the dominant effect of the OPTN A allele). Polymorphisms in exons 4 and 12, and in introns 6 and 7 were also detected. Conclusions: The association of the allelic variation (Met98Lys) in the OPTN gene and the prevalence of POAG and NTG in unrelated Japanese patients suggest that they are involved in the pathogenesis of POAG and NTG." @default.
• W2052783288 created "2016-06-24" @default.
• W2052783288 creator A5003779897 @default.
• W2052783288 creator A5006581351 @default.
• W2052783288 creator A5009690717 @default.
• W2052783288 creator A5022621431 @default.
• W2052783288 creator A5039327799 @default.
• W2052783288 creator A5055673644 @default.
• W2052783288 creator A5090659492 @default.
• W2052783288 date "2004-08-01" @default.
• W2052783288 modified "2023-09-30" @default.
• W2052783288 title "Molecular Genetic Analysis of Optineurin Gene for Primary Open-Angle and Normal Tension Glaucoma in the Japanese Population" @default.
• W2052783288 cites W1529007441 @default.
• W2052783288 cites W1752988765 @default.
• W2052783288 cites W1965955778 @default.
• W2052783288 cites W1969481688 @default.
• W2052783288 cites W1989399186 @default.
• W2052783288 cites W1995887719 @default.
• W2052783288 cites W1996381116 @default.
• W2052783288 cites W1997616950 @default.
• W2052783288 cites W2050100864 @default.
• W2052783288 cites W2060621059 @default.
• W2052783288 cites W2065670354 @default.
• W2052783288 cites W2100159037 @default.
• W2052783288 cites W2101199309 @default.
• W2052783288 cites W2104650771 @default.
• W2052783288 cites W2106369180 @default.
• W2052783288 cites W2117954469 @default.
• W2052783288 cites W2133853402 @default.
• W2052783288 cites W2154886355 @default.
• W2052783288 cites W2161381121 @default.
• W2052783288 cites W2161968833 @default.
• W2052783288 cites W2163275807 @default.
• W2052783288 cites W2166453083 @default.
• W2052783288 cites W2168802470 @default.
• W2052783288 cites W2325896885 @default.
• W2052783288 doi "https://doi.org/10.1097/00061198-200408000-00007" @default.
• W2052783288 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15226658" @default.
• W2052783288 hasPublicationYear "2004" @default.
• W2052783288 type Work @default.
• W2052783288 sameAs 2052783288 @default.
• W2052783288 citedByCount "75" @default.
• W2052783288 countsByYear W20527832882012 @default.
• W2052783288 countsByYear W20527832882013 @default.
• W2052783288 countsByYear W20527832882014 @default.
• W2052783288 countsByYear W20527832882015 @default.
• W2052783288 countsByYear W20527832882016 @default.
• W2052783288 countsByYear W20527832882017 @default.
• W2052783288 countsByYear W20527832882018 @default.
• W2052783288 countsByYear W20527832882019 @default.
• W2052783288 countsByYear W20527832882020 @default.
• W2052783288 countsByYear W20527832882021 @default.
• W2052783288 countsByYear W20527832882022 @default.
• W2052783288 countsByYear W20527832882023 @default.
• W2052783288 crossrefType "journal-article" @default.
• W2052783288 hasAuthorship W2052783288A5003779897 @default.
• W2052783288 hasAuthorship W2052783288A5006581351 @default.
• W2052783288 hasAuthorship W2052783288A5009690717 @default.
• W2052783288 hasAuthorship W2052783288A5022621431 @default.
• W2052783288 hasAuthorship W2052783288A5039327799 @default.
• W2052783288 hasAuthorship W2052783288A5055673644 @default.
• W2052783288 hasAuthorship W2052783288A5090659492 @default.
• W2052783288 hasConcept C104317684 @default.
• W2052783288 hasConcept C118487528 @default.
• W2052783288 hasConcept C180754005 @default.
• W2052783288 hasConcept C2777801377 @default.
• W2052783288 hasConcept C2778527774 @default.
• W2052783288 hasConcept C2780179686 @default.
• W2052783288 hasConcept C2908647359 @default.
• W2052783288 hasConcept C2991803831 @default.
• W2052783288 hasConcept C36823959 @default.
• W2052783288 hasConcept C37463918 @default.
• W2052783288 hasConcept C501734568 @default.
• W2052783288 hasConcept C54355233 @default.
• W2052783288 hasConcept C71924100 @default.
• W2052783288 hasConcept C75563809 @default.
• W2052783288 hasConcept C86803240 @default.
• W2052783288 hasConcept C99454951 @default.
• W2052783288 hasConceptScore W2052783288C104317684 @default.
• W2052783288 hasConceptScore W2052783288C118487528 @default.
• W2052783288 hasConceptScore W2052783288C180754005 @default.
• W2052783288 hasConceptScore W2052783288C2777801377 @default.
• W2052783288 hasConceptScore W2052783288C2778527774 @default.
• W2052783288 hasConceptScore W2052783288C2780179686 @default.
• W2052783288 hasConceptScore W2052783288C2908647359 @default.
• W2052783288 hasConceptScore W2052783288C2991803831 @default.
• W2052783288 hasConceptScore W2052783288C36823959 @default.
• W2052783288 hasConceptScore W2052783288C37463918 @default.
• W2052783288 hasConceptScore W2052783288C501734568 @default.
• W2052783288 hasConceptScore W2052783288C54355233 @default.
• W2052783288 hasConceptScore W2052783288C71924100 @default.
• W2052783288 hasConceptScore W2052783288C75563809 @default.
• W2052783288 hasConceptScore W2052783288C86803240 @default.
• W2052783288 hasConceptScore W2052783288C99454951 @default.
• W2052783288 hasIssue "4" @default.
• W2052783288 hasLocation W20527832881 @default.
• W2052783288 hasLocation W20527832882 @default.
• W2052783288 hasOpenAccess W2052783288 @default.

• next