Literature DB >> 10819638

Novel mutation in the MYOC gene in primary open glaucoma patients.

J P Vasconcellos, M B Melo, V P Costa, D M Tsukumo, D S Bassères, S Bordin, S T Saad, F F Costa.   

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Year:  2000        PMID： 10819638      PMCID： PMC1734562          DOI： 10.1136/jmg.37.4.301

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

Review 1.  Glaucoma genetics.

Authors:  Pratap Challa
Journal:  Int Ophthalmol Clin       Date:  2008

2.  The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Authors:  J Nicole Burns; Katherine C Turnage; Chandler A Walker; Raquel L Lieberman
Journal:  Biochemistry       Date:  2011-06-09       Impact factor: 3.162

3.  A sequential, multiple-treatment, targeted approach to reduce wound healing and failure of glaucoma filtration surgery in a rabbit model (an American Ophthalmological Society thesis).

Authors:  Mark Brian Sherwood
Journal:  Trans Am Ophthalmol Soc       Date:  2006

4.  Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

Authors:  Mary K Wirtz; John R Samples; Dongseok Choi; N Donna Gaudette
Journal:  Am J Ophthalmol       Date:  2007-05-11       Impact factor: 5.258

5.  Gene expression and functional annotation of the human ciliary body epithelia.

Authors:  Sarah F Janssen; Theo G M F Gorgels; Koen Bossers; Jacoline B Ten Brink; Anke H W Essing; Martijn Nagtegaal; Peter J van der Spek; Nomdo M Jansonius; Arthur A B Bergen
Journal:  PLoS One       Date:  2012-09-18       Impact factor: 3.240

Review 6.  Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Authors:  Hailee F Scelsi; Brett M Barlow; Emily G Saccuzzo; Raquel L Lieberman
Journal:  Hum Mutat       Date:  2021-06-24       Impact factor: 4.700

7.  Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.

Authors:  Ana Maria Marques; Galina Ananina; Vital Paulino Costa; José Paulo Cabral de Vasconcellos; Mônica Barbosa de Melo
Journal:  PLoS One       Date:  2018-11-16       Impact factor: 3.240

Review 8.  Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.

Authors:  Tarin Tanji; Emily Cohen; Darrick Shen; Chi Zhang; Fei Yu; Anne L Coleman; Jie J Zheng
Journal:  Genes (Basel)       Date:  2021-11-16       Impact factor: 4.141

9.  Contributions of MYOC and CYP1B1 mutations to JOAG.

Authors:  Behnaz Bayat; Shahin Yazdani; Afagh Alavi; Mohsen Chiani; Fereshteh Chitsazian; Betsabeh Khoramian Tusi; Fatemeh Suri; Mehrnaz Narooie-Nejhad; Mohammad H Sanati; Elahe Elahi
Journal:  Mol Vis       Date:  2008-03-13       Impact factor: 2.367
  9 in total

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