| Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma. | Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.
Mullie GA, Javidi S, Soucy JF, Lesk MR, Hamel P. | 11/15/2023 |
| Myocilin misfolding and glaucoma: A 20-year update. | Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG, Youngblood HA, Lieberman RL., Free PMC Article | 07/12/2023 |
| Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice. | Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.
Cheng Y, Wu S, Yan X, Liu Q, Lin D, Zhang J, Wang N. | 06/26/2023 |
| COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. | COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
Abdul Majeed S, Dunzendorfer H, Weiner J, Heiker JT, Kiess W, Körner A, Landgraf K., Free PMC Article | 02/28/2023 |
| CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma. | CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.
Kaushik S, Luthra-Guptasarma M, Prasher D, Dhingra D, Singh N, Kumar A, Sharma SP, Kaur H, Snehi S, Thattaruthody F, Pandav SS. | 02/11/2023 |
| Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis. | Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ, Zhang GW, Cui HY, Li N, Liu XX, Hao MY, Wang SW, Lu H. | 05/14/2022 |
| Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population. | Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA, FinnGen Consortium., Free PMC Article | 04/30/2022 |
| Prevalence of MYOC risk variants for glaucoma in different populations. | Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ, Harju M, Kivelä TT, Turunen JA. | 04/30/2022 |
| Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities. | Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Tanji T, Cohen E, Shen D, Zhang C, Yu F, Coleman AL, Zheng JJ., Free PMC Article | 02/12/2022 |
| Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin. | Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
Kasetti RB, Maddineni P, Kiehlbauch C, Patil S, Searby CC, Levine B, Sheffield VC, Zode GS., Free PMC Article | 01/15/2022 |
| Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress. | Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress.
Sharma R, Grover A., Free PMC Article | 01/1/2022 |
| Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank. | Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.
Zebardast N, Sekimitsu S, Wang J, Elze T, Gharahkhani P, Cole BS, Lin MM, Segrè AV, Wiggs JL, International Glaucoma Genetics Consortium., Free PMC Article | 11/27/2021 |
| Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review. | Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q. | 10/30/2021 |
| Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation. | Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.
Lu H, Chen Y, Kong Y, Liu X, Li N, Zhang S, Xu H. | 08/21/2021 |
| The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma. | The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.
Gupta V, Somarajan BI, Gupta S, Walia GK, Singh A, Sofi R, Chaudhary RS, Sharma A., Free PMC Article | 07/31/2021 |
| An Insight into Primary Congenital Glaucoma. | An Insight into Primary Congenital Glaucoma.
Khan MU, Zia MUQ, Tabassum W. | 07/17/2021 |
| Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells. | Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.
Yan X, Wu S, Liu Q, Li Y, Zhu W, Zhang J., Free PMC Article | 07/3/2021 |
| Characterization of a novel mutation in the MYOC gene in a Chinese family with primary openangle glaucoma. | Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma.
Fan W, Li W, Duan C, Zhang W, Guo Y, Chen F., Free PMC Article | 05/1/2021 |
| Cross-talk between MYOC p. Y437H mutation and TGF-beta2 in the pathology of glaucoma. | Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma.
Yang Y, Abdulatef ASWA, Zhang L, Jiang H, Zeng Z, Li H, Xia X., Free PMC Article | 03/13/2021 |
| Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. | Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
O'Gorman L, Cree AJ, Ward D, Griffiths HL, Sood R, Denniston AK, Self JE, Ennis S, Lotery AJ, Gibson J., Free PMC Article | 10/24/2020 |
| A novel MYOC mutation (c.1309T>C, p.Y437H) in a Chinese family with POAG was identified which was associated with a phenotype characterised by severe visual impairment, frequent surgical intervention requirement and relatively high penetrance. | The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma.
Lei L, Li S, Liu X, Zhang C. | 03/21/2020 |
| MYOC was discovered to be associated with glaucoma via genetic studies of pedigrees with juvenile-onset primary open-angle glaucoma (JOAG). The patients with JOAG in these studies were found to harbor a set of MYOC mutations. | Myocilin Mutations in Patients With Normal-Tension Glaucoma.
Alward WLM, van der Heide C, Khanna CL, Roos BR, Sivaprasad S, Kam J, Ritch R, Lotery A, Igo RP Jr, Cooke Bailey JN, Stone EM, Scheetz TE, Kwon YH, Pasquale LR, Wiggs JL, Fingert JH, NEIGHBORHOOD Consortium., Free PMC Article | 02/22/2020 |
| Phenotypic differences observed in mouse and human studies of mutant myocilin could be a function of aggregation kinetics rates, which would alter the lifetime of putatively toxic protofibrillar intermediates. | Differential Misfolding Properties of Glaucoma-Associated Olfactomedin Domains from Humans and Mice.
Patterson-Orazem AC, Hill SE, Wang Y, Dominic IM, Hall CK, Lieberman RL., Free PMC Article | 01/18/2020 |
| The MYOC p.Gln368Ter variant confers a very high-risk effect size for advanced glaucoma; the risk is lower in nonadvanced glaucoma and ocular hypertension (OHT). In the general population sample, approximately 50% of MYOC p.Gln368Ter carriers 65 years and older had glaucoma or OHT, with higher prevalence in the Australian registry studies. | Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
Han X, Souzeau E, Ong JS, An J, Siggs OM, Burdon KP, Best S, Goldberg I, Healey PR, Graham SL, Ruddle JB, Mills RA, Landers J, Galanopoulos A, White AJR, Casson R, Mackey DA, Hewitt AW, Gharahkhani P, Craig JE, MacGregor S., Free PMC Article | 11/23/2019 |
| Two novel variants of the MYOC gene were detected among sporadic primary open-angle glaucoma patients | [Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].
Zhang X, Zhang D, Huang L, Hao F, Lin Y, Gong B, Yang Z. | 09/14/2019 |