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For this study, we utilized a transgenic mouse expressing human mutant MYOC Y437H protein and we examined its skeletal (gastrocnemius) muscle phenotype. Electron micrographs showed that sarcomeres in the skeletal muscle of mutant CMV-MYOC-Y437H mice had multiple M-bands.
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Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.
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While MYOC damaging alterations were highly prevalent (34%), CYP1B1 damaging variants were less frequent (2%) in this cohort of Brazilian juvenile open angle glaucoma patients.
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chaperone alphaB-crystallin (CRYAB) is a MYOC-binding partner and that co-expression of these two proteins increases protein aggregates.
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Data suggest that the ultimate goal of myocilin (MYOC) research is to better understand this target so the patient that carries a MYOC mutation retain vision and maintain quality of life.
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Structure and misfolding of the flexible tripartite coiled-coil domain of glaucoma-associated myocilin has been reported.
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single nucleotide polymorphism in exon 3 of MYOC is associated with glaucoma.
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Juvenile onset open angle glaucoma and adult onset POAG form a spectrum of phenotypes. we analyzed the common variants in MYOC and CYP1B1 that were shared among all the three phenotypes .An interesting finding was that, while, many CYP1B1 variants were found in all three types of glaucoma, there was no reported MYOC variant, that was common to all the three primary glaucomas.
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We report a five-generation pedigree with a complex pattern of primary open angle glaucoma(POAG) inheritance; familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree.
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present work reveals that FOXC1 is an important regulator of exocytosis and establishes a new link between FOXC1 and MYOC-associated glaucoma
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The four detected MYOC mutations appeared to be associated with morphologic changes in the trabecular meshwork and the underlying pathogenesis of a subtype of familial primary open angle glaucoma.
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The mutations c.1456C < T (p.L486F) in MYOC and c.322G < A (p.V108I) in B4GALT3 are likely responsible for the pathogenesis of Primary Open-angle Glaucoma in this family.
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Our findings demonstrated that MYOC cascade genetic testing for POAG allows identification of at-risk individuals at an early stage or even before signs of glaucoma are present. To our knowledge, this is the first study to demonstrate the clinical utility of predictive genetic testing for MYOC glaucoma.
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The significance of this finding is that higher numbers of healthy individuals in the population are expected to be carriers of this mutation, which in turn reduces the utility of identifying carriers of this mutation as a screening tool for glaucoma
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regulation by retinoic acid acts through the MYOC promoter which contains a critical cluster of four retinoic acid responsive elements (RAREs), with the RARE-DR2 presenting the strongest effect and binding the RARalpha/RXRalpha heterodimer.
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Five out of 30 families with PCG (16.7%) had disease attributable to CYP1B1 alterations suggesting that CYP1B1 is not the major gene causing PCG in Vietnamese unlike in the case of Arab or Romany patients.
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The present study provides insight into the genetic or haplotype variants of MYOC and OPTN genes contributing to primary glaucoma. Haplotype variants identified in the present study may be regarded as potential contributing factors of primary glaucoma in Korea.
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Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-closure glaucoma disease
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The rate of CYP1B1 mutations in Lebanese patients with primary congenital glaucoma (PCG) is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible.
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Data show that predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations.
