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3.4.2 Gene studies (22)
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52540 FOXC1 in human trabecular meshwork cells is involved in regulatory pathway that includes miR-204, MEIS2, and ITGβ1Paylakhi SH; Moazzeni H; Yazdani S; Rassouli P; Arefian E; Jaberi E; Arash EH; Gilani AS; Fan JB; April C; Amin S; Suri F; Elahi E
Experimental Eye Research 2013; 111: 112-121
52943 Role of substratum stiffness in modulating genes associated with extracellular matrix and mechanotransducers YAP and TAZRaghunathan VK; Morgan JT; Dreier B; Reilly CM; Thomasy SM; Wood JA; Ly I; Tuyen BC; Hughbanks M; Murphy CJ; Russell P
Investigative Ophthalmology and Visual Science 2013; 54: 378-386
52392 TBK1 and Flanking Genes in Human RetinaFingert JH; Darbro BW; Qian Q; Van Rheeden R; Miller K; Riker M; Solivan-Timpe F; Roos BR; Robin AL; Mullins RF
Ophthalmic Genetics 2014; 35: 35-40
52568 Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucomaSzaflik JP; Cuchra M; Przybylowska-Sygut K; Dziki L; Kurowska AK; Gacek M; Drzewoski J; Szaflik J; Majsterek I
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2013; 753: 12-22
52751 Association of eNOS polymorphisms with primary angle-closure glaucomaAwadalla MS; Thapa SS; Hewitt AW; Craig JE; Burdon KP
Investigative Ophthalmology and Visual Science 2013; 54: 2108-2114
53237 A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel LociScheetz TE; Fingert JH; Wang K; Kuehn MH; Knudtson KL; Alward WL; Boldt HC; Russell SR; Folk JC; Casavant TL; Braun TA; Clark AF; Stone EM; Sheffield VC
PLoS ONE 2013; 8: e58657
52881 Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucomaSeo S; Solivan-Timpe F; Roos BR; Robin AL; Stone EM; Kwon YH; Alward WL; Fingert JH
Current Eye Research 2013; 38: 310-315
53241 Hepatocyte growth factor genetic variations and primary angle-closure glaucoma in the han chinese populationJiang Z; Liang K; Ding B; Tan W; Wang J; Lu Y; Xu Y; Tao L
PLoS ONE 2013; 8: e60950
53014 M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cellsSirohi K; Chalasani ML; Sudhakar C; Kumari A; Radha V; Swarup G
Autophagy 2013; 9: 510-527
52658 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusLu Y; Vitart V; Burdon KP; Khor CC; Bykhovskaya Y; Mirshahi A; Hewitt AW; Koehn D; Hysi PG; Ramdas WD; Zeller T; Vithana EN; Cornes BK; Tay WT; Tai ES; Cheng CY; Liu J; Foo JN; Saw SM; Thorleifsson G; Stefansson K; Dimasi DP; Mills RA; Mountain J; Ang W
Nature Genetics 2013; 45: 155-163
53010 Molecular genetic analysis of primary open-angle glaucoma, normal tension glaucoma, and developmental glaucoma for the VAV2 and VAV3 gene variants in Japanese subjectsShi D; Takano Y; Nakazawa T; Mengkegale M; Yokokura S; Nishida K; Fuse N
Biochemical and Biophysical Research Communications 2013; 432: 509-512
52427 Changes in retinal aquaporin-9 (AQP9) expression in glaucomaYang MH; Dibas A; Tyan YC
Bioscience reports 2013; 0:
52589 ANRIL: Molecular Mechanisms and Implications in Human HealthCongrains A; Kamide K; Ohishi M; Rakugi H
International journal of molecular sciences 2013; 14: 1278-1292
52501 Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek populationChiras D; Tzika K; Kokotas H; Oliveira SC; Grigoriadou M; Kastania A; Dima K; Stefaniotou M; Aspiotis M; Petersen MB; Kroupis C; Kitsos G
Molecular Vision 2013; 19: 1006-1016
52543 Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registrySouzeau E; Burdon KP; Dubowsky A; Grist S; Usher B; Fitzgerald JT; Crawford A; Hewitt AW; Goldberg I; Mills RA; Ruddle JB; Landers J; Mackey DA; Craig JE
Ophthalmology 2013; 120: 1135-1143
52799 A genome-wide association study of central corneal thickness in LatinosGao X; Gauderman WJ; Liu Y; Marjoram P; Torres M; Haritunians T; Kuo JZ; Chen YD; Allingham RR; Hauser MA; Taylor KD; Rotter JI; Varma R
Investigative Ophthalmology and Visual Science 2013; 54: 2435-2443
52858 A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humorKuchtey J; Chowdhury UR; Uptegraft CC; Fautsch MP; Kuchtey RW
European Journal of Medical Genetics 2013; 56: 292-296
53103 Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye StudyDay AC; Luben R; Khawaja AP; Low S; Hayat S; Dalzell N; Wareham NJ; Khaw KT; Foster PJ
British Journal of Ophthalmology 2013; 97: 704-707
53186 Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucomaKuchtey J; Chang TC; Panagis L; Kuchtey RW
American Journal of Medical Genetics, Part A 2013; 161: 880-883
52682 Exfoliation syndrome: new genetic and pathophysiologic insightsSein J; Galor A; Sheth A; Kruh J; Pasquale LR; Karp CL
Current Opinions in Ophthalmology 2013; 24: 167-174
52463 Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene DeletionChacón-Camacho O; Arce-Gonzalez R; Granillo-Alvarez M; Flores-Limas S; Ramírez M; Zenteno JC
Ophthalmic Genetics 2013; 34: 243-248
52805 Protection of mouse retinal ganglion cell axons and soma from glaucomatous and ischemic injury by cytoplasmic overexpression of Nmnat1Zhu Y; Zhang L; Sasaki Y; Milbrandt J; Gidday JM
Investigative Ophthalmology and Visual Science 2013; 54: 25-36