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3.4.2 Gene studies (60)
Showing records 1 to 25
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies58905 Differential effects of caveolin-1 and -2 knockdown on aqueous outflow and altered extracellular matrix turnover in caveolin-silenced trabecular meshwork cells
Aga M; Bradley JM; Wanchu R; Yang YF; Acott TS; Keller KE
Investigative Ophthalmology and Visual Science 2014; 55: 5497-5509
58829 Lymphatic regulator PROX1 determines Schlemm's canal integrity and identity
Park DY; Lee J; Park I; Choi D; Lee S; Song S; Hwang Y; Hong KY; Nakaoka Y; Makinen T; Kim P; Alitalo K; Hong YK; Koh GY
Journal of Clinical Investigation 2014; 124: 3960-3974
58978 Primary cilia signaling mediates intraocular pressure sensation
Luo N; Conwell MD; Chen X; Kettenhofen CI; Westlake CJ; Cantor LB; Wells CD; Weinreb RN; Corson TW; Spandau DF; Joos KM; Iomini C; Obukhov AG; Sun Y
Proceedings of the National Academy of Sciences of the United States of America 2014; 111: 12871-12876
58809 MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study
Gupta S; Bhaskar PK; Bhardwaj R; Chandra A; Chaudhry VN; Chaudhry P; Ali A; Mukherjee A; Mutsuddi M
PLoS ONE 2014; 9: e103063
58767 Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma
Stothert AR; Suntharalingam A; Huard DJ; Fontaine SN; Crowley VM; Mishra S; Blagg BS; Lieberman RL; Dickey CA
Human Molecular Genetics 2014; 23: 6470-6480
58885 Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma
Micheal S; Ayub H; Zafar SN; Bakker B; Ali M; Akhtar F; Islam F; Khan MI; Qamar R; den Hollander AI
Clinical and Experimental Ophthalmology 2015; 43: 31-39
58808 An updated meta-analysis: apolipoprotein E genotypes and risk of primary open-angle glaucoma
Liao R; Ye M; Xu X
Molecular Vision 2014; 20: 1025-1036
59388 MYOC Mutations in Black South African Patients with Primary Open-angle Glaucoma: Genetic Testing and Cascade Screening
Williams SE; Carmichael TR; Wainstein T; Hobbs A; Ramsay M
Ophthalmic Genetics 2014; 0: 1-8
59387 A novel methodology for enhanced and consistent heterologous expression of unmodified human cytochrome P450 1B1 (CYP1B1)
Faiq MA; Ali M; Dada T; Dada R; Saluja D
PLoS ONE 2014; 9: e110473
59149 Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants
Sundaresan P; Simpson DA; Sambare C; Duffy S; Lechner J; Dastane A; Dervan EW; Vallabh N; Chelerkar V; Deshpande M; O'Brien C; McKnight AJ; Willoughby CE
Genetics in Medicine 2015; 17: 279-284
58884 Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma
Bennett TM; Mackay DS; Siegfried CJ; Shiels A
PLoS ONE 2014; 9: e104000
59540 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Consugar MB; Navarro-Gomez D; Place EM; Bujakowska KM; Sousa ME; Fonseca-Kelly ZD; Taub DG; Janessian M; Wang DY; Au ED; Sims KB; Sweetser DA; Fulton AB; Liu Q; Wiggs JL; Gai X; Pierce EA
Genetics in Medicine 2015; 17: 253-261
59533 Retinal transcriptome profiling at transcription start sites: a cap analysis of gene expression early after axonal injury
Yasuda M; Tanaka Y; Nishiguchi KM; Ryu M; Tsuda S; Maruyama K; Nakazawa T
BMC Genomics 2014; 15: 982
59350 The Effect of MTHFR Ala222Val Polymorphism on Open-angle Glaucoma: A Meta-analysis
Zhao R; Yin D; Wang E; Si B
Ophthalmic Genetics 2014; 0: 1-4
59541 DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
Liu Y; Garrett ME; Yaspan BL; Cooke Bailey JN; Loomis SJ; Brilliant M; Budenz DL; Christen WG; Fingert J; Gaasterland D; Gaasterland T; Kang JH; Lee RK; Lichter PR; Moroi SE; Realini T; Richards J; Schuman JS; Scott WK; Singh K; Sit AJ; Vollrath D; Weinre
Investigative Ophthalmology and Visual Science 2014; 0:
59289 Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma
Awadalla MS; Fingert JH; Roos BE; Chen S; Holmes R; Graham SL; Chehade M; Galanopolous A; Ridge B; Souzeau E; Zhou T; Siggs OM; Hewitt AW; Mackey DA; Burdon KP; Craig JE
American Journal of Ophthalmology 2015; 159: 124-130.e1
59550 Association of SOD2 Polymorphisms with Primary Open Angle glaucoma in a Chinese Population
Zhou Y; Shuai P; Li X; Liu X; Wang J; Yang Y; Hao F; Lin H; Zhang D; Gong B
Ophthalmic Genetics 2014; 0: 1-7
59652 Functional analysis of differentially expressed genes associated with glaucoma from DNA microarray data
Wu Y; Zang WD; Jiang W
Genetics and Molecular Research 2014; 13: 9421-9428
58782 Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
Bailey JN; Yaspan BL; Pasquale LR; Hauser MA; Kang JH; Loomis SJ; Brilliant M; Budenz DL; Christen WG; Fingert J; Gaasterland D; Gaasterland T; Kraft P; Lee RK; Lichter PR; Liu Y; McCarty CA; Moroi SE; Richards JE; Realini T; Schuman JS; Scott WK; Singh K
Human Genetics 2014; 133: 1319-1330
59454 Association between primary open angle glaucoma and genetic polymorphisms GSTM1/GSTT1 in patients from Goiânia Central-West Region of Brazil
Silva CT; Costa NB; Silva KS; Silva RE; Moura KK
Genetics and Molecular Research 2014; 13: 8870-8875
59160 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Springelkamp H; Höhn R; Mishra A; Hysi PG; Khor CC; Loomis SJ; Bailey JN; Gibson J; Thorleifsson G; Janssen SF; Luo X; Ramdas WD; Vithana E; Nongpiur ME; Montgomery GW; Xu L; Mountain JE; Gharahkhani P; Lu Y; Amin N; Karssen LC; Sim KS; van Leeuwen E
Nature communications 2014; 5: 4883
59233 Association between SNPs (rs1533428, rs12994401, rs10202118) on chromosome 2p16.3 and primary open angle glaucoma
Meng N; Ma J; Xia L; Zhang Y; Shi C
Current Eye Research 2014; 0: 1-8
59646 Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts
Micheal S; Ayub H; Khan MI; Bakker B; Schoenmaker-Koller FE; Ali M; Akhtar F; Khan WA; Qamar R; den Hollander AI
Molecular Vision 2014; 20: 1471-1479
58892 Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
Davidson AE; Cheong SS; Hysi PG; Venturini C; Plagnol V; Ruddle JB; Ali H; Carnt N; Gardner JC; Hassan H; Gade E; Kearns L; Jelsig AM; Restori M; Webb TR; Laws D; Cosgrove M; Hertz JM; Russell-Eggitt I; Pilz DT; Hammond CJ; Tuft SJ; Hardcastle AJ
PLoS ONE 2014; 9: e104163
58766 Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative
Hoffmann TJ; Tang H; Thornton TA; Caan B; Haan M; Millen AE; Thomas F; Risch N
Human Molecular Genetics 2014; 23: 6634-6643
