Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
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The current research status of normal tension glaucomaOverexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in miceEnhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucomaFine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative geneFunctional analysis of optineurin and some of its disease-associated mutantsCurrent concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatmentSpink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damageA Glaucoma-Associated Variant of Optineurin, M98K, Activates Tbk1 to Enhance Autophagosome Formation and Retinal Cell Death Dependent on Ser177 Phosphorylation of OptineurinM98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cellsNF-kappaB mediates tumor necrosis factor alpha-induced expression of optineurin, a negative regulator of NF-kappaB.Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.Common genetic determinants of intraocular pressure and primary open-angle glaucoma.Common variants on chromosome 9p21 are associated with normal tension glaucoma.A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel LociCopy number variations on chromosome 12q14 in patients with normal tension glaucomaA role for myocilin in receptor-mediated endocytosis.Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.TBK1 gene duplication and normal-tension glaucoma.The role of the Met98Lys optineurin variant in inherited optic nerve diseasesAbsence of altered expression of optineurin in primary open angle glaucoma patients.SQSTM1 Mutations and Glaucoma.Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.Expression profiling of microRNAs in optineurin (E50K) mutant transgenic miceComplex genetics of complex traits: the case of primary open-angle glaucoma.Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes.Variation in optineurin (OPTN) allele frequencies between and within populations.Cellular and molecular biology of optineurin.Optineurin coding variants in Ghanaian patients with primary open-angle glaucomaMultiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells.Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.Glaucoma genetics.High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucomaTank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).Complex genetic mechanisms in glaucoma: an overviewPrimary open-angle glaucoma genes.Genetics of primary open angle glaucoma.
P2860
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P2860
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@ast
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@en
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@nl
type
label
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@ast
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@en
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@nl
prefLabel
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@ast
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@en
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@nl
P2093
P50
P3181
P1476
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
@en
P2093
Benjamin R Roos
Cheryl L Khanna
David A Mackey
Jamie E Craig
Kazuhide Kawase
Louisa M Affatigato
Sohan S Hayreh
Tetsuya Yamamoto
P304
P3181
P356
10.1016/S0002-9394(03)00577-4
P407
P577
2003-11-01T00:00:00Z