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Depletion of Mitochondrial DNA in Differentiated Retinal Pigment Epithelial Cells. Scientific reports
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Method for measuring extracellular flux from intact polarized epithelial monolayers MOLECULAR VISION
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Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: analysis in Two Large Datasets INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma HUMAN GENETICS
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Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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An ENU-Induced Mutation in the Mertk Gene (Mertk(nmf12)) Leads to a Slow Form of Retinal Degeneration INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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Generation of Cre Transgenic Mice with Postnatal RPE-Specific Ocular Expression INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice JOURNAL OF CLINICAL INVESTIGATION
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Rescue of Glaucoma-Causing Mutant Myocilin Thermal Stability by Chemical Chaperones ACS CHEMICAL BIOLOGY
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Mertk Drives Myosin II Redistribution during Retinal Pigment Epithelial Phagocytosis INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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Rapid and stable knockdown of an endogenous gene in retinal pigment epithelium HUMAN GENE THERAPY
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Nail-patella syndrome and its association with glaucoma: a review of eight families BRITISH JOURNAL OF OPHTHALMOLOGY
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A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy AMERICAN JOURNAL OF OPHTHALMOLOGY
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Temperature sensitive secretion of mutant myocilins EXPERIMENTAL EYE RESEARCH
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Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure MOLECULAR VISION
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Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells AMERICAN JOURNAL OF HUMAN GENETICS
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phi C31 integrase confers genomic integration and long-term transgene expression in rat retina INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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2005; 46 (6): 2140-2146
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma HUMAN MOLECULAR GENETICS
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MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: Loss of mutant protein function in transfected CeRs INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
McHenry, C. L., Liu, Y. H., Feng, W., Nair, A. R., Feathers, K. L., Ding, X. L., Gal, A., Vollrath, D., Sieving, P. A., Thompson, D. A.
2004; 45 (5): 1456-1463
An RCS-like retinal dystrophy phenotype in Mer knockout mice INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Duncan, J. L., LaVail, M. M., Yasumura, D., Matthes, M. T., Yang, H. D., Trautmann, N., Chappelow, A. V., Feng, W., Earp, H. S., Matsushima, G. K., Vollrath, D.
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Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells JOURNAL OF BIOLOGICAL CHEMISTRY
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2002; 277 (19): 17016-17022
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively AMERICAN JOURNAL OF HUMAN GENETICS
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Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC ARCHIVES OF OPHTHALMOLOGY
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Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa NATURE GENETICS
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Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma AMERICAN JOURNAL OF OPHTHALMOLOGY
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Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat HUMAN MOLECULAR GENETICS
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A cellular assay distinguishes normal and mutant TIGR/myocilin protein HUMAN MOLECULAR GENETICS
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Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11 AMERICAN JOURNAL OF HUMAN GENETICS
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Characterization of the murine TIGR/myocilin gene MAMMALIAN GENOME
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Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome HUMAN MOLECULAR GENETICS
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