Ophthalmology - Basic Science/Genetics News & Articles

161 A novel missense mutation in the NYX gene associated with high myopia Ophthalmic and Physiological Optics, February 18, 2013    Clinical Article

162 Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290 VA Changes in LCA and Mutations in CEP290 JAMA Ophthalmology, February 15, 2013    Clinical Article

163 Evaluation of Eph receptor and ephrin expression within the human cornea and limbus Experimental Eye Research, February 15, 2013    Clinical Article

164 Increased Expression of CD200 on Circulating CD11b+ Monocytes in Patients with Neovascular Age-related Macular Degeneration Ophthalmology, February 15, 2013    Clinical Article

165 Cannabinoid receptor 1 blockade protects human retinal pigment epithelial cells from oxidative injury Full Text Molecular Vision, February 13, 2013    Clinical Article

166 The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort Full Text Molecular Vision, February 13, 2013

167 Toll-like receptor 3 activation in retinal pigment epithelium cells - Mitogen-activated protein kinase pathways of cell death and vascular endothelial growth factor secretion Acta Ophthalmologica, February 12, 2013    Clinical Article

168 Autocrine CCL2, CXCL4, CXCL9 and CXCL10 signal in retinal endothelial cells and are enhanced in diabetic retinopathy Experimental Eye Research, February 11, 2013    Clinical Article

169 Histologic Basis of Variations in Retinal Pigment Epithelium Autofluorescence in Eyes with Geographic Atrophy Ophthalmology, February 11, 2013    Review Article    Clinical Article

170 Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation American Journal of Ophthalmology, February 11, 2013    Clinical Article

171 Effect of TGF-β on ocular surface epithelial cells Experimental Eye Research, February 8, 2013    Clinical Article

172 DNA damage in human pterygium: One-shot multiple targets Full Text Molecular Vision, February 8, 2013

173 Cyclin-dependent kinase 5 promotes the stability of corneal epithelial cell junctions Full Text Molecular Vision, February 8, 2013    Clinical Article

174 High Glucose Induced Differential Expression of Lysyl Oxidase and Its Isoform in ARPE-19 Cells Current Eye Research, February 8, 2013    Clinical Article

175 Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis Journal of Medical Genetics, February 7, 2013    Evidence Based Medicine

176 Panretinal acute multifocal placoid pigment epitheliopathy: a novel posterior uveitis syndrome with HLA-A3 and HLA-C7 association Full Text Journal of Ophthalmic Inflammation and Infection, February 7, 2013

177 Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy Full Text Molecular Vision, February 6, 2013

178 Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome Full Text Molecular Vision, February 6, 2013

179 An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration Experimental Eye Research, February 5, 2013    Clinical Article

180 X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene Vision Research, February 5, 2013

1 All-trans-Retinal Sensitizes Human RPE Cells to Alternative Complement Pathway-Induced Cell Death Investigative Ophthalmology & Visual Science, April 8, 2013

2 Renal artery stenosis and abdominal aorta aneurysm in patients with pseudoexfoliation syndrome Eye, April 18, 2013    Review Article

3 Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing Molecular Vision, March 26, 2013    Free full text

4 Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant Molecular Vision, April 23, 2013    Free full text

5 Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment Human Molecular Genetics, April 18, 2013    Review Article

6 Prevalence and Progression of Pigment Clumping Associated With Idiopathic Macular Telangiectasia Type 2 Retina, April 12, 2013

7 Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes Molecular Vision, April 11, 2013    Free full text

8 Diverse Mediators Modulate the Chloride Ion Fluxes that Drive Lacrimal Fluid Production Investigative Ophthalmology & Visual Science, April 3, 2013

9 FIH-1/c-kit signaling: a novel contributor to corneal epithelial glycogen metabolism Investigative Ophthalmology & Visual Science, April 9, 2013

10 ALDH1A3 Loss of Function Causes Bilateral Anophthalmia/Microphthalmia and Hypoplasia of the Optic Nerve and Optic Chiasm Human Molecular Genetics, April 18, 2013    Review Article

11 Suppression of type I collagen in human scleral fibroblasts treated with extremely low-frequency electromagnetic fields Molecular Vision, April 17, 2013    Free full text

12 Mature dendritic cell suppression by IL-1 receptor antagonist on retinal pigment epithelium cells Investigative Ophthalmology & Visual Science, April 3, 2013

13 Complement factor H Val62Ile variant and risk of age-related macular degeneration: A meta-analysis Molecular Vision, February 18, 2013    Free full text    Evidence Based Medicine

14 Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis Neuromuscular Disorders, March 18, 2013    Review Article

15 Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene Documenta Ophthalmologica, April 29, 2013

16 Antiapoptotic properties of α-crystallin-derived peptide chaperones and characterization of their uptake transporters in human RPE cells Investigative Ophthalmology & Visual Science, April 9, 2013

17 Epigenetic Regulation of CXCR4 Expression by the Ocular Microenvironment Investigative Ophthalmology & Visual Science, November 28, 2012

18 The RPGRIP1-related retinal phenotype in children British Journal of Ophthalmology, April 9, 2013

19 Effects of Soluble Cd14 and Cytokine Levels on Diabetic Macular Edema and Visual Acuity Retina, April 29, 2013

20 Hermansky-Pudlak syndrome (HPS5) in a nonagenarian Journal of AAPOS, April 23, 2013