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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5557
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pubmed:dateCreated |
2002-2-8
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pubmed:abstractText |
Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:BriceGlenG,
pubmed-author:ChildAnneA,
pubmed-author:Coca-PradosMiguelM,
pubmed-author:CrickR PittsRP,
pubmed-author:HéonEliseE,
pubmed-author:HitchingsRogerR,
pubmed-author:KreutzerDonaldD,
pubmed-author:KrupinTheodoreT,
pubmed-author:MillerLauriL,
pubmed-author:RezaieTayebehT,
pubmed-author:RitchRobertR,
pubmed-author:SarfaraziMansoorM
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pubmed:issnType |
Electronic
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pubmed:day |
8
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pubmed:volume |
295
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1077-9
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:11834836-Adult,
pubmed-meshheading:11834836-Alternative Splicing,
pubmed-meshheading:11834836-Amino Acid Sequence,
pubmed-meshheading:11834836-Brain,
pubmed-meshheading:11834836-Chromosome Mapping,
pubmed-meshheading:11834836-Chromosomes, Human, Pair 10,
pubmed-meshheading:11834836-Ciliary Body,
pubmed-meshheading:11834836-Exons,
pubmed-meshheading:11834836-Eye Proteins,
pubmed-meshheading:11834836-Female,
pubmed-meshheading:11834836-Glaucoma, Open-Angle,
pubmed-meshheading:11834836-Golgi Apparatus,
pubmed-meshheading:11834836-Heterozygote,
pubmed-meshheading:11834836-Humans,
pubmed-meshheading:11834836-Intraocular Pressure,
pubmed-meshheading:11834836-Male,
pubmed-meshheading:11834836-Middle Aged,
pubmed-meshheading:11834836-Mutation,
pubmed-meshheading:11834836-Mutation, Missense,
pubmed-meshheading:11834836-Nerve Tissue Proteins,
pubmed-meshheading:11834836-Ocular Hypertension,
pubmed-meshheading:11834836-Pedigree,
pubmed-meshheading:11834836-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11834836-Retina,
pubmed-meshheading:11834836-Trabecular Meshwork,
pubmed-meshheading:11834836-Transcription Factor TFIIIA,
pubmed-meshheading:11834836-Zinc Fingers
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pubmed:year |
2002
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pubmed:articleTitle |
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
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pubmed:affiliation |
Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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