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Graefe s Archive for Clinical and Experimental Ophthalmology
Article . 2006 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
PubliCatt
Article . 2006
Data sources: PubliCatt
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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Authors: ARIANI F.; LONGO I.; FREZZOTTI P.; PESCUCCI C.; MARI F.; CAPOROSSI A.; FREZZOTTI R.; +1 Authors

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Abstract

To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG).Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced.We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant.In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.

Country
Italy
Keywords

Adult, Male, DNA Mutational Analysis, Cell Cycle Proteins, Polymerase Chain Reaction, Normotensive glaucoma, OPTN, Transcription Factor TFIIIA, Humans, RNA, Messenger, Chromatography, High Pressure Liquid, Intraocular Pressure, Aged, High-tension glaucoma, Membrane Transport Proteins, Middle Aged, Pedigree, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma; Adult; Aged; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Glaucoma, Open-Angle; Humans; Intraocular Pressure; Male; Middle Aged; Pedigree; Polymerase Chain Reaction; RNA, Messenger; Transcription Factor TFIIIA; Mutation; Ophthalmology; Sensory Systems; Cellular and Molecular Neuroscience, Mutation, Female, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma, Primary open-angle glaucoma, Glaucoma, Open-Angle

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
12
Average
Average
Top 10%
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