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Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M, Sharma R, Dada R, Mohanty K, Saluja D, Dada T.

J Curr Glaucoma Pract. 2013 May-Aug;7(2):66-84. doi: 10.5005/jp-journals-10008-1140. Epub 2013 May 9. Review.


Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M, Mohanty K, Dada R, Dada T.

J Curr Glaucoma Pract. 2013 Jan-Apr;7(1):25-35. doi: 10.5005/jp-journals-10008-1133. Epub 2013 Jan 15. Review.


Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Stothert AR, Fontaine SN, Sabbagh JJ, Dickey CA.

Exp Eye Res. 2016 Mar;144:38-45. doi: 10.1016/j.exer.2015.08.017. Epub 2015 Aug 22. Review.


Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.

Gharahkhani P, Burdon KP, Hewitt AW, Law MH, Souzeau E, Montgomery GW, Radford-Smith G, Mackey DA, Craig JE, MacGregor S.

Invest Ophthalmol Vis Sci. 2015 Aug;56(9):5087-93. doi: 10.1167/iovs.15-17305.


Molecular Details of Olfactomedin Domains Provide Pathway to Structure-Function Studies.

Hill SE, Donegan RK, Nguyen E, Desai TM, Lieberman RL.

PLoS One. 2015 Jun 29;10(6):e0130888. doi: 10.1371/journal.pone.0130888. eCollection 2015.


Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.

Philomenadin FS, Asokan R, N V, George R, Lingam V, Sarangapani S.

PLoS One. 2015 Mar 23;10(3):e0119703. doi: 10.1371/journal.pone.0119703. eCollection 2015.


Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

Wang F, Li Y, Lan L, Li B, Lin L, Lu X, Li J.

Int J Mol Med. 2015 May;35(5):1230-6. doi: 10.3892/ijmm.2015.2138. Epub 2015 Mar 13.


Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK, Hill SE, Freeman DM, Nguyen E, Orwig SD, Turnage KC, Lieberman RL.

Hum Mol Genet. 2015 Apr 15;24(8):2111-24. doi: 10.1093/hmg/ddu730. Epub 2014 Dec 18.


Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.

Yang X, Liu X, Peng J, Zheng H, Lu F, Gong B, Zhao G, Meng Y, Guan H, Ning M, Yang Z, Shi Y.

Genet Test Mol Biomarkers. 2014 Jun;18(6):446-52. doi: 10.1089/gtmb.2013.0479. Epub 2014 Apr 25.


The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Borrás T.

J Ocul Pharmacol Ther. 2014 Mar-Apr;30(2-3):202-12. doi: 10.1089/jop.2013.0218. Epub 2014 Feb 24. Review.


Myocilin regulates cell proliferation and survival.

Joe MK, Kwon HS, Cojocaru R, Tomarev SI.

J Biol Chem. 2014 Apr 4;289(14):10155-67. doi: 10.1074/jbc.M113.547091. Epub 2014 Feb 22.


The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.

Hill SE, Donegan RK, Lieberman RL.

J Mol Biol. 2014 Feb 20;426(4):921-35. doi: 10.1016/j.jmb.2013.12.002. Epub 2013 Dec 9.


Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ; Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG.

Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.


Significance of G-X-W motif in the myocilin olfactomedin domain.

Rangachari K, Jeyalaxmi J, Eswari Pandaranayaka PJ, Prasanthi N, Sundaresan P, Krishnadas SR, Krishnaswamy S.

J Ocul Biol Dis Infor. 2012 Jun 5;4(4):154-8. doi: 10.1007/s12177-012-9089-7. Print 2011 Dec. No abstract available.


Key molecular pathways affected by glaucoma pathology: is predictive diagnosis possible?

Golubnitschaja O, Yeghiazaryan K, Flammer J.

EPMA J. 2010 Jun;1(2):237-44. doi: 10.1007/s13167-010-0031-4. Epub 2010 Jun 29.


Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism.

Suntharalingam A, Abisambra JF, O'Leary JC 3rd, Koren J 3rd, Zhang B, Joe MK, Blair LJ, Hill SE, Jinwal UK, Cockman M, Duerfeldt AS, Tomarev S, Blagg BS, Lieberman RL, Dickey CA.

J Biol Chem. 2012 Nov 23;287(48):40661-9. doi: 10.1074/jbc.M112.384800. Epub 2012 Oct 3.


Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.

Cheng JW, Cheng SW, Ma XY, Cai JP, Li Y, Lu GC, Wei RL.

PLoS One. 2012;7(9):e46632. doi: 10.1371/journal.pone.0046632. Epub 2012 Sep 28. Review.


Wnt activation by wild type and mutant myocilin in cultured human trabecular meshwork cells.

Shen X, Ying H, Yue BY.

PLoS One. 2012;7(9):e44902. doi: 10.1371/journal.pone.0044902. Epub 2012 Sep 13.

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