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Year Number of Results
1997 1
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2006 18
2007 26
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2010 12
2011 17
2012 14
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340 results

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Page 1
Genetics of glaucoma.
Wiggs JL, Pasquale LR. Wiggs JL, et al. Hum Mol Genet. 2017 Aug 1;26(R1):R21-R27. doi: 10.1093/hmg/ddx184. Hum Mol Genet. 2017. PMID: 28505344 Free PMC article. Review.
Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for …
Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular e …
Heredity in primary open-angle glaucoma.
Budde WM. Budde WM. Curr Opin Ophthalmol. 2000 Apr;11(2):101-6. doi: 10.1097/00055735-200004000-00006. Curr Opin Ophthalmol. 2000. PMID: 10848214 Review.
Several loci in the human genome have been described, which segregate with different glaucoma phenotypes. Mutations of the MYOC/TIGR (myocilin/trabecular meshwork inducible glucocorticoid response) gene on chromosome 1q account for most, but probably not all, cases of glau …
Several loci in the human genome have been described, which segregate with different glaucoma phenotypes. Mutations of the MYOC/TIGR …
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, Kinzy TG, Khawaja AP, An J, Marshall H, Gharahkhani P, Igo RP Jr, Graham SL, Healey PR, Ong JS, Zhou T, Siggs O, Law MH, Souzeau E, Ridge B, Hysi PG, Burdon KP, Mills RA, Landers J, Ruddle JB, Agar A, Galanopoulos A, White AJR, Willoughby CE, Andrew NH, Best S, Vincent AL, Goldberg I, Radford-Smith G, Martin NG, Montgomery GW, Vitart V, Hoehn R, Wojciechowski R, Jonas JB, Aung T, Pasquale LR, Cree AJ, Sivaprasad S, Vallabh NA; NEIGHBORHOOD consortium; UK Biobank Eye and Vision Consortium; Viswanathan AC, Pasutto F, Haines JL, Klaver CCW, van Duijn CM, Casson RJ, Foster PJ, Khaw PT, Hammond CJ, Mackey DA, Mitchell P, Lotery AJ, Wiggs JL, Hewitt AW, MacGregor S. Craig JE, et al. Nat Genet. 2020 Feb;52(2):160-166. doi: 10.1038/s41588-019-0556-y. Epub 2020 Jan 20. Nat Genet. 2020. PMID: 31959993 Free PMC article.
A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOC variant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. ...
A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the M …
Familial normal tension glaucoma genetics.
Fox AR, Fingert JH. Fox AR, et al. Prog Retin Eye Res. 2023 Sep;96:101191. doi: 10.1016/j.preteyeres.2023.101191. Epub 2023 Jun 22. Prog Retin Eye Res. 2023. PMID: 37353142 Review.
Approximately 2% of NTG cases are caused primarily by mutations in single genes, optineurin (OPTN), TANK binding kinase 1 (TKB1), or myocilin (MYOC). Herein, we review pedigree studies of NTG and autosomal dominant NTG caused by OPTN, TBK1, and MYOC mutations. ...
Approximately 2% of NTG cases are caused primarily by mutations in single genes, optineurin (OPTN), TANK binding kinase 1 (TKB1), or myocili …
Advances in glaucoma genetics.
Sakurada Y, Mabuchi F. Sakurada Y, et al. Prog Brain Res. 2015;220:107-26. doi: 10.1016/bs.pbr.2015.04.006. Epub 2015 Jul 2. Prog Brain Res. 2015. PMID: 26497787 Review.
Familial linkage studies for POAG have been performed and identified causative POAG disease genes (e.g., MYOC, OPTN, and WDR36). Recent genome-wide association studies revealed a large number of susceptibility gene variants associated with both POAG (e.g., CDKN2BAS, CAV1/C …
Familial linkage studies for POAG have been performed and identified causative POAG disease genes (e.g., MYOC, OPTN, and WDR36). Rece …
Mouse myocilin (Myoc) gene expression in ocular tissues.
Takahashi H, Noda S, Imamura Y, Nagasawa A, Kubota R, Mashima Y, Kudoh J, Oguchi Y, Shimizu N. Takahashi H, et al. Biochem Biophys Res Commun. 1998 Jul 9;248(1):104-9. doi: 10.1006/bbrc.1998.8917. Biochem Biophys Res Commun. 1998. PMID: 9675094
We have isolated cDNA for mouse myocilin (Myoc) and investigated mouse myocilin gene expression in ocular tissues with in situ RNA hybridization. ...
We have isolated cDNA for mouse myocilin (Myoc) and investigated mouse myocilin gene expression in ocular tissues with in situ RNA hy …
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Hadrami M, Bonnet C, Zeitz C, Veten F, Biya M, Hamed CT, Condroyer C, Wang P, Sidi MM, Cheikh S, Zhang Q, Audo I, Petit C, Houmeida A. Hadrami M, et al. Mol Vis. 2019 Jul 13;25:373-381. eCollection 2019. Mol Vis. 2019. PMID: 31367175 Free PMC article.
RESULTS: Targeted exome sequencing analysis revealed predicted pathogenic mutations in four genes: CYP1B1 (c.217_218delTC, p.Ser73Valfs*150), MYOC (878C>A, p.T293K), NTF4 (c.601T>G, p.Cys201Gly), and WDR36 (c.2078A>G, p.Asn693Ser), each carried by a different fami …
RESULTS: Targeted exome sequencing analysis revealed predicted pathogenic mutations in four genes: CYP1B1 (c.217_218delTC, p.Ser73Valfs*150) …
Mendelian genes in primary open angle glaucoma.
Sears NC, Boese EA, Miller MA, Fingert JH. Sears NC, et al. Exp Eye Res. 2019 Sep;186:107702. doi: 10.1016/j.exer.2019.107702. Epub 2019 Jun 22. Exp Eye Res. 2019. PMID: 31238079 Free PMC article. Review.
MYOC mutations cause 3-4% of POAG cases with IOP >21 mmHg, while mutations in OPTN, TBK1, and MYOC each cause 1% of POAG with IOP 21 mmHg, i.e. normal tension glaucoma. ...Investigation of MYOC mutations demonstrated that abnormal retention of intracellula …
MYOC mutations cause 3-4% of POAG cases with IOP >21 mmHg, while mutations in OPTN, TBK1, and MYOC each cause 1% of POAG wi …
340 results