Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma.
Sci Rep.
2023 Sep 23;13(1):15871. doi: 10.1038/s41598-023-43072-3. PubMed PMID:
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PMC10517927.
Familial normal tension glaucoma genetics.
Prog Retin Eye Res.
2023 Sep;96:101191. doi: 10.1016/j.preteyeres.2023.101191. Epub 2023 Jun 22. Review. PubMed PMID:
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GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
JAMA Ophthalmol.
2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535. PubMed PMID:
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The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank.
Ophthalmol Glaucoma.
2023 Jul-Aug;6(4):366-379. doi: 10.1016/j.ogla.2022.11.008. Epub 2022 Dec 5. PubMed PMID:
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Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes.
Ophthalmology.
2023 Jul;130(7):756-763. doi: 10.1016/j.ophtha.2023.02.018. Epub 2023 Feb 20. PubMed PMID:
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Thrombospondin Mutations and Primary Congenital Glaucoma Patients in a United States Population.
J Glaucoma.
2023 Jun 16;. doi: 10.1097/IJG.0000000000002254. [Epub ahead of print] PubMed PMID:
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Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Ophthalmol Glaucoma.
2023 May 22;. doi: 10.1016/j.ogla.2023.05.006. [Epub ahead of print] PubMed PMID:
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Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles.
Am J Ophthalmol Case Rep.
2023 Mar;29:101811. doi: 10.1016/j.ajoc.2023.101811. eCollection 2023 Mar. PubMed PMID:
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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Hum Mutat.
2022 Dec;43(12):2170-2186. doi: 10.1002/humu.24482. Epub 2022 Oct 19. PubMed PMID:
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Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin Juvenile Glaucoma.
Ophthalmol Glaucoma.
2022 May-Jun;5(3):369-370. doi: 10.1016/j.ogla.2021.07.003. Epub 2021 Jul 14. PubMed PMID:
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Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.
JAMA Ophthalmol.
2022 May 1;140(5):543-544. doi: 10.1001/jamaophthalmol.2022.0556. PubMed PMID:
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Prevalence of Open-angle Glaucoma in the Faroese Population.
J Glaucoma.
2022 Feb 1;31(2):72-78. doi: 10.1097/IJG.0000000000001921. PubMed PMID:
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Cavitary Optic Disc Anomaly.
Ophthalmol Glaucoma.
2022 Jan-Feb;5(1):76. doi: 10.1016/j.ogla.2021.09.008. PubMed PMID:
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Recombinant adenovirus causes prolonged mobilization of macrophages in the anterior chambers of mice.
Mol Vis.
2021;27:741-756. eCollection 2021. PubMed PMID:
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PMC8763664.
Chimeric Helper-Dependent Adenoviruses Transduce Retinal Ganglion Cells and Müller Cells in Human Retinal Explants.
J Ocul Pharmacol Ther.
2021 Dec;37(10):575-579. doi: 10.1089/jop.2021.0057. Epub 2021 Oct 1. PubMed PMID:
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Diffusion Tensor Imaging of Visual Pathway Abnormalities in Five Glaucoma Animal Models.
Invest Ophthalmol Vis Sci.
2021 Aug 2;62(10):21. doi: 10.1167/iovs.62.10.21. PubMed PMID:
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Automated segmentation of choroidal layers from 3-dimensional macular optical coherence tomography scans.
J Neurosci Methods.
2021 Aug 1;360:109267. doi: 10.1016/j.jneumeth.2021.109267. Epub 2021 Jun 19. PubMed PMID:
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Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics.
2021 Jun 26;22(1):477. doi: 10.1186/s12864-021-07782-0. PubMed PMID:
34174832; PubMed Central PMCID:
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Aqueous Misdirection After Trabeculectomy in a Down Syndrome Patient With Angle-closure Glaucoma.
J Glaucoma.
2021 May 1;30(5):e269-e270. doi: 10.1097/IJG.0000000000001831. PubMed PMID:
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Cell-Matrix Interactions in the Eye: From Cornea to Choroid.
Cells.
2021 Mar 20;10(3). doi: 10.3390/cells10030687. Review. PubMed PMID:
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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nat Commun.
2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. PubMed PMID:
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Genetic association between MMP9 and choroidal neovascularization in age-related macular degeneration.
Ophthalmology Science. 2021; 1:100002. doi: https://doi.org/10.1016/j.xops.2020.100002.
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
BMC Ophthalmol.
2020 Oct 1;20(1):388. doi: 10.1186/s12886-020-01659-8. PubMed PMID:
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Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4.
Invest Ophthalmol Vis Sci.
2020 Jul 1;61(8):3. doi: 10.1167/iovs.61.8.3. PubMed PMID:
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Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.
Am J Ophthalmol.
2020 Jun;214:52-62. doi: 10.1016/j.ajo.2020.01.017. Epub 2020 Jan 24. PubMed PMID:
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High Iris Insertion in Axenfeld-Rieger Syndrome.
Ophthalmology.
2020 Jun;127(6):768. doi: 10.1016/j.ophtha.2020.02.012. PubMed PMID:
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Progressive optic disc cupping over 20 years in a patient with TBK1-associated glaucoma.
Ophthalmol Glaucoma.
2020 Mar-Apr;3(2):167-168. doi: 10.1016/j.ogla.2019.11.003. Epub 2019 Nov 16. PubMed PMID:
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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Nat Genet.
2020 Feb;52(2):160-166. doi: 10.1038/s41588-019-0556-y. Epub 2020 Jan 20. PubMed PMID:
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Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Curr Eye Res.
2020 Jan;45(1):91-96. doi: 10.1080/02713683.2019.1649704. Epub 2019 Aug 14. PubMed PMID:
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Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
Commun Biol.
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Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
JAMA.
2019 Nov 5;322(17):1682-1691. doi: 10.1001/jama.2019.16161. PubMed PMID:
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Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.
Am J Ophthalmol.
2019 Oct;206:245-255. doi: 10.1016/j.ajo.2019.05.015. Epub 2019 May 20. PubMed PMID:
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Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
JAMA Ophthalmol.
2019 Oct 1;137(10):1190-1194. doi: 10.1001/jamaophthalmol.2019.3109. PubMed PMID:
31436842; PubMed Central PMCID:
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Mendelian genes in primary open angle glaucoma.
Exp Eye Res.
2019 Sep;186:107702. doi: 10.1016/j.exer.2019.107702. Epub 2019 Jun 22. Review. PubMed PMID:
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The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma.
Am J Ophthalmol.
2019 Jun;202:55-61. doi: 10.1016/j.ajo.2019.02.017. Epub 2019 Feb 21. PubMed PMID:
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Myocilin Mutations in Patients With Normal-Tension Glaucoma.
JAMA Ophthalmol.
2019 May 1;137(5):559-563. doi: 10.1001/jamaophthalmol.2019.0005. PubMed PMID:
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Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology.
BMC Med Genet.
2019 Apr 27;20(1):63. doi: 10.1186/s12881-019-0800-4. PubMed PMID:
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Penetrance of Myocilin Mutations-Who Gets Glaucoma?.
JAMA Ophthalmol.
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Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.
Hum Genet.
2018 Oct;137(10):847-862. doi: 10.1007/s00439-018-1943-7. Epub 2018 Oct 13. PubMed PMID:
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Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye.
Ophthalmol Glaucoma.
2018 Sep-Oct;1(2):132-138. doi: 10.1016/j.ogla.2018.08.004. Epub 2018 Aug 17. PubMed PMID:
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Glaucoma-associated corneal endothelial cell damage: A review.
Surv Ophthalmol.
2018 Jul-Aug;63(4):500-506. doi: 10.1016/j.survophthal.2017.11.002. Epub 2017 Nov 14. Review. PubMed PMID:
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Update on Animal Models of Exfoliation Syndrome.
J Glaucoma.
2018 Jul;27 Suppl 1(Suppl 1):S78-S82. doi: 10.1097/IJG.0000000000000911. Review. PubMed PMID:
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CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.
Prog Retin Eye Res.
2018 Jul;65:28-49. doi: 10.1016/j.preteyeres.2018.03.003. Epub 2018 Mar 22. Review. PubMed PMID:
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Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Nat Genet.
2018 Jun;50(6):778-782. doi: 10.1038/s41588-018-0126-8. Epub 2018 May 21. PubMed PMID:
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Nat Commun.
2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. PubMed PMID:
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Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.
Invest Ophthalmol Vis Sci.
2018 May 1;59(6):2495-2502. doi: 10.1167/iovs.17-23536. PubMed PMID:
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Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.
Hum Mol Genet.
2018 Apr 15;27(8):1486-1496. doi: 10.1093/hmg/ddy053. PubMed PMID:
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Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse.
Exp Eye Res.
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A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.
Eye (Lond).
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CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells.
Curr Protoc Stem Cell Biol.
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