Search Results - "Rowlan, Jessica"
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Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia
Published in Genes (25-05-2022)“…Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of…”
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Gene therapy rescues cone function in congenital achromatopsia
Published in Human molecular genetics (01-07-2010)“…The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an…”
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Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia
Published in Molecular therapy (01-06-2013)“…Achromatopsia is a genetic disorder of cones, and one of the most common forms is a channelopathy caused by mutations in the β-subunit, CNGB3, of the cone…”
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A novel form of progressive retinal atrophy in Swedish vallhund dogs
Published in PloS one (08-09-2014)“…Inherited retinal degenerations, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD), represent leading causes of incurable blindness…”
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New quantitative trait loci for carotid atherosclerosis identified in an intercross derived from apolipoprotein E-deficient mouse strains
Published in Physiological genomics (16-04-2013)“…Carotid atherosclerosis is the primary cause of ischemic stroke. To identify genetic factors contributing to carotid atherosclerosis, we performed quantitative…”
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Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L / M Opsin Interchange Mutations
Published in Translational vision science & technology (01-05-2017)“…Human long ( ) and middle ( ) wavelength cone opsin genes are highly variable due to intermixing. Two / cone opsin interchange mutants, designated and , are…”
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Atherosclerosis Susceptibility Loci Identified in an Extremely Atherosclerosis‐Resistant Mouse Strain
Published in Journal of the American Heart Association (12-08-2013)“…Background C3H/HeJ (C3H) mice are extremely resistant to atherosclerosis, especially males. To understand the underlying genetic basis, we performed…”
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Genetic Analysis of Atherosclerosis and Glucose Homeostasis in an Intercross Between C57BL/6 and BALB/cJ Apolipoprotein E–Deficient Mice
Published in Circulation. Cardiovascular genetics (01-04-2012)“…BACKGROUND—Diabetic patients have an increased risk of developing atherosclerosis and related complications compared with nondiabetic individuals. The…”
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Quantitative Trait Locus Analysis of Neointimal Formation in an Intercross Between C57BL/6 and C3H/HeJ Apolipoprotein E-Deficient Mice
Published in Circulation. Cardiovascular genetics (01-06-2009)“…Quantitative Trait Locus Analysis of Neointimal Formation in an Intercross Between C57BL/6 and C3H/HeJ Apolipoprotein E–Deficient Mice Zuobiao Yuan, MD, PhD ;…”
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Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases
Published in Veterinary ophthalmology (01-09-2011)“…Objective To describe the clinical phenotype and genetics of equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies…”
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Quantitative trait locus analysis of circulating adhesion molecules in hyperlipidemic apolipoprotein E-deficient mice
Published in Molecular genetics and genomics : MGG (01-11-2008)“…Circulating soluble adhesion molecules have been suggested as useful markers to predict several clinical conditions such as atherosclerosis, type 2 diabetes,…”
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Gene therapy rescues cone function in congenital achromatopsia
Published in Human molecular genetics (15-12-2011)Get full text
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Characterization of Gene Therapy Associated Uveitis Following Intravitreal Adeno-Associated Virus Injection in Mice
Published in Investigative ophthalmology & visual science (01-02-2021)“…To characterize the intraocular immune cell infiltrate induced by intravitreal adeno-associated virus (AAV) gene therapy. AAV vectors carrying plasmids…”
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Poster Session II: Intravitreal gene therapy in primate reaches extrafoveal cones
Published in Journal of vision (Charlottesville, Va.) (01-12-2023)“…Intravitreal delivery of gene therapy vectors to the retina carries lower risk of adverse events versus subretinal injections, but efficiently targeting cones…”
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CFH Haploinsufficiency and Complement Alterations in Early-Onset Macular Degeneration
Published in Investigative ophthalmology & visual science (01-04-2024)“…Complement dysregulation is a key component in the pathogenesis of age-related macular degeneration (AMD) and related diseases such as early-onset macular…”
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Insight from IOPN1LW/I Gene Haplotypes into the Cause and Prevention of Myopia
Published in Genes (01-05-2022)“…Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of…”
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Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency
Published in Journal of the Optical Society of America. A, Optics, image science, and vision (01-04-2020)“…Here we present evidence implicating disrupted RNA splicing as a potential cause of inherited tritan color vision. Initially we tested 51 subjects for color…”
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