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Molecular Vision

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https://www.readbyqxmd.com/read/27881908/functional-study-of-two-biochemically-unusual-mutations-in-gucy2d-leber-congenital-amaurosis-expressed-via-adenoassociated-virus-vector-in-mouse-retinas
#1
Sanford L Boye, Elena V Olshevskaya, Igor V Peshenko, K Tyler McCullough, Shannon E Boye, Alexander M Dizhoor
PURPOSE: To test, in living photoreceptors, two mutations, S248W and R1091x, in the GUCY2D gene linked to Leber congenital amaurosis 1 (LCA1) that fail to inactivate the catalytic activity of a heterologously expressed retinal membrane guanylyl cyclase 1 (RetGC1). METHODS: GUC2YD cDNA constructs coding for wild-type human (hWT), R1091x, and S248W GUCY2D under the control of the human rhodopsin kinase promoter were expressed in Gucy2e(-/-)Gucy2f(-/-) knockout (GCdKO) mouse retinas, which lack endogenous RetGC activity...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27881907/retinal-safety-of-intravitreal-rtpa-in-healthy-rats-and-under-excitotoxic-conditions
#2
Alejandra Daruich, Jérôme Parcq, Kimberley Delaunay, Marie-Christine Naud, Quentin Le Rouzic, Emilie Picard, Patricia Crisanti, Denis Vivien, Marianne Berdugo, Francine Behar-Cohen
PURPOSE: Intravitreal recombinant tissue plasminogen activator (rtPA) is used off-label for the surgical management of submacular hemorrhage, a severe complication of neovascular age-related macular degeneration. rtPA is approved for coronary and cerebral thrombolysis. However, in ischemic stroke rtPA is known to increase excitotoxic neural cell death by interacting with the N-methyl-D-aspartate (NMDA) receptor. We therefore investigated the retinal toxicity of rtPA in healthy rats and in a model of NMDA-induced retinal excitotoxicity...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27881906/genetic-and-immunohistochemical-analysis-of-hspa5-in-mouse-and-human-retinas
#3
Sumana R Chintalapudi, XiaoFei Wang, Huiling Li, Yin H Chan Lau, Robert W Williams, Monica M Jablonski
PURPOSE: Photoreceptor degenerative diseases are among the leading causes of vision loss. Although the causative genetic mutations are often known, mechanisms leading to photoreceptor degeneration remain poorly defined. We have previously demonstrated that the photoreceptor membrane-associated protein XAP-1 antigen is a product of the HSPA5 gene. In this study, we used systems genetic methods, statistical modeling, and immunostaining to identify and analyze candidate genes that modulate Hspa5 expression in the retina...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27843266/heat-shock-protein-concentration-and-clarity-of-porcine-lenses-incubated-at-elevated-temperatures
#4
T M Dzialoszynski, K J Milne, J R Trevithick, E G Noble
PURPOSE: To quantify the concentration of heat shock proteins in lenses in lens organ culture at elevated temperatures, and to examine the relation between elevated temperature and lens clarity. METHODS: Pig lenses obtained from a local abattoir were dissected aseptically and incubated in medium M199 without serum for 4 days to stabilize, and lenses with protein leakage of less than 10 mg/l were obtained for heat shock exposure. Heat shock was performed by incubation for 1 h in M199 without serum at various temperatures ranging from 37 °C to 55 °C...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27829784/irbp-deficiency-permits-precocious-ocular-development-and-myopia
#5
Shanu Markand, Natecia L Baskin, Ranjay Chakraborty, Erica Landis, Sara A Wetzstein, Kevin J Donaldson, Priyanka Priyadarshani, Shannon E Alderson, Curran S Sidhu, Jeffrey H Boatright, P Michael Iuvone, Machelle T Pardue, John M Nickerson
PURPOSE: Interphotoreceptor retinoid-binding protein (IRBP) is abundant in the subretinal space and binds retinoids and lipophilic molecules. The expression of IRBP begins precociously early in mouse eye development. IRBP-deficient (KO) mice show less cell death in the inner retinal layers of the retina before eyelid opening compared to wild-type C57BL/6J (WT) controls and eventually develop profound myopia. Thus, IRBP may play a role in eye development before visually-driven phenomena...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27829783/peptide-redesign-for-inhibition-of-the-complement-system-targeting-age-related-macular-degeneration
#6
Rohith R Mohan, Andrea P Cabrera, Reed E S Harrison, Ronald D Gorham, Lincoln V Johnson, Kaustabh Ghosh, Dimitrios Morikis
PURPOSE: To redesign a complement-inhibiting peptide with the potential to become a therapeutic for dry and wet age-related macular degeneration (AMD). METHODS: We present a new potent peptide (Peptide 2) of the compstatin family. The peptide is developed by rational design, based on a mechanistic binding hypothesis, and structural and physicochemical properties derived from molecular dynamics (MD) simulation. The inhibitory activity, efficacy, and solubility of Peptide 2 are evaluated using a hemolytic assay, a human RPE cell-based assay, and ultraviolet (UV) absorption properties, respectively, and compared to the respective properties of its parent peptide (Peptide 1)...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#7
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27829781/x-linked-heterozygous-mutations-in-arr3-cause-female-limited-early-onset-high-myopia
#8
Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang
PURPOSE: To identify genetic mutations in three families with early onset high myopia (eoHM) limited to female members. METHODS: Genomic DNA was collected from participating members of families XF1, XF2, and XF3. Genome-wide linkage scans were performed on the largest family (XF1). Whole exome sequencing was performed on seven samples, including five samples (four affected and one unaffected) from family XF1, as well as the two probands from family XF2 and XF3. Variants were analyzed with multistep bioinformatics analyses...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777505/plasma-endothelin-1-and-single-nucleotide-polymorphisms-of-endothelin-1-and-endothelin-type-a-receptor-genes-as-risk-factors-for-normal-tension-glaucoma
#9
Ewa Kosior-Jarecka, Dominika Wróbel-Dudzińska, Urszula Łukasik, Tin Aung, Chiea Chuen Khor, Janusz Kocki, Tomasz Żarnowski
PURPOSE: The purpose of this study was to determine whether four single nucleotide polymorphisms (SNPs) of endothelin and endothelin receptor type A genes can constitute a risk factor for normal tension glaucoma (NTG) and high tension glaucoma (HTG). METHODS: The study included 160 patients with NTG, 124 patients with HTG, and 165 healthy controls. To analyze the frequency of polymorphic variants of the endothelin EDN gene (K198N) and the endothelin receptor type A gene EDN RA (C1222T, C70G, G231A), DNA was isolated from peripheral blood, and SNP genotyping was performed using the real-time PCR (RT-PCR) method...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777504/optimizing-rejection-readouts-in-a-corneal-allograft-transplantation-model
#10
Thabo Lapp, Antonia Hildebrand, Daniel Böhringer, Paola Kammrath Betancor, Günther Schlunck, Thomas Reinhard
PURPOSE: To evaluate the feasibility of anterior segment spectral domain optic coherence tomography (ASOCT) as rejection readout in a keratoplasty mouse model and to compare ASOCT against the current standard (i.e., a clinical score system). Furthermore, to compare both approaches with respect to intra- and inter-individual observer variability and to calculate a critical point that distinguishes between rejection and non-rejection in ASOCT analysis. METHODS: Allogeneic penetrating keratoplasties (PKs) were performed using C3H/He donor mice and BALB/c recipient mice; syngeneic transplantations served as controls using BALB/c donors and recipients...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777503/north-carolina-macular-dystrophy-mcdr1-caused-by-a-novel-tandem-duplication-of-the-prdm13-gene
#11
Sara J Bowne, Lori S Sullivan, Dianna K Wheaton, Kirsten G Locke, Kaylie D Jones, Daniel C Koboldt, Robert S Fulton, Richard K Wilson, Susan H Blanton, David G Birch, Stephen P Daiger
PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected spouses underwent whole exome sequencing (WES) and subsequently, custom capture of the linkage region followed by next-generation sequencing (NGS)...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777502/analysis-of-cyp1b1-in-pediatric-and-adult-glaucoma-and-other-ocular-phenotypes
#12
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27777501/human-postmortem-lacrimal-and-submandibular-glands-stored-in-rnalater-are-suitable-for-molecular-biochemical-and-cell-biological-studies
#13
Dillon Hawley, Hema Aluri, Helene Armaos, Gina Kim, Claire Kublin, Driss Zoukhri
PURPOSE: Gene expression and protein analysis studies require high-quality human tissue which is a challenge and difficult to obtain through live human biopsies. Human postmortem lacrimal gland (LG) and submandibular gland (SMG) tissues have the potential to provide an invaluable source for studying the mechanisms involved in LG and SMG dysfunction. Therefore, we aimed to test the suitability of post-mortem LG and SMG for molecular, biochemical, and cell biological studies. METHODS: LG and SMG tissue from healthy donors was collected and immediately placed in RNAlater solution and then shipped overnight at 4 °C...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27746675/src-tyrosine-kinase-regulates-the-stem-cell-factor-induced-breakdown-of-the-blood-retinal-barrier
#14
Ji-Eun Im, Sun-Hwa Song, Wonhee Suh
PURPOSE: Stem cell factor (SCF) has been recently acknowledged as a novel endothelial permeability factor. However, the mechanisms by which SCF-induced activation of the SCF cognate receptor, cKit, enhances endothelial permeability have not been fully elucidated. This study aimed to investigate the role of Src in SCF-induced breakdown of the blood-retinal barrier (BRB). METHODS: In vitro endothelial permeability and in vivo retinal vascular permeability assays were performed to investigate the role of Src in SCF-induced breakdown of the BRB...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27746674/deficient-glucose-and-glutamine-metabolism-in-aralar-agc1-slc25a12-knockout-mice-contributes-to-altered-visual-function
#15
Laura Contreras, Laura Ramirez, Jianhai Du, James B Hurley, Jorgina Satrústegui, Pedro de la Villa
PURPOSE: To characterize the vision phenotype of mice lacking Aralar/AGC1/Slc25a12, the mitochondrial aspartate-glutamate carrier mutated in global cerebral hypomyelination (OMIM 612949). METHODS: We tested overnight dark-adapted control and aralar-deficient mice for the standard full electroretinogram (ERG) response. The metabolic stress of dark-adaptation was reduced by 5 min illumination after which the ERG response was monitored in darkness. We used the electrical response to two identical saturating light flashes (paired-flash stimulation) to isolate the inner retina and photoreceptor responses...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27746673/transthyretin-represses-neovascularization-in-diabetic-retinopathy
#16
Jun Shao, Yong Yao
PURPOSE: The apoptosis of human umbilical vein endothelial cells has been reportedly induced by the protein transthyretin (TTR). In human ocular tissue, TTR is generally considered to be secreted mainly by retinal pigment epithelial cells (hRPECs); however, whether TTR affects the development of neovascularization in diabetic retinopathy (DR) remains unclear. METHODS: Natural and simulated DR media were used to culture human retinal microvascular endothelial cells (hRECs)...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27746672/non-toxic-retention-of-nanoceria-in-murine-eyes
#17
Xue Cai, Sudipta Seal, James F McGinnis
PURPOSE: We have shown that cerium oxide nanoparticles (nanoceria), with unique characteristics and catalytic activities, are retained in the retina for more than 1 year after a single intravitreal injection and can be potentially used for the treatment of a variety of eye diseases. The objective of this study is to determine whether the retention of nanoceria in the eye causes inflammation or adverse side effects. METHODS: Wild-type (C57BL/6J) mice at P30 were intravitreally injected with several concentrations of nanoceria...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27746671/a-real-time-arms-pcr-high-resolution-melt-curve-assay-for-the-detection-of-the-three-primary-mitochondrial-mutations-in-leber-s-hereditary-optic-neuropathy
#18
Siobhan Eustace Ryan, Fergus Ryan, Veronica O'Dwyer, Derek Neylan
PURPOSE: Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individual mutations involved. The study aimed to provide a more robust, cost- and time-effective mutation detection strategy than that offered with currently available methods...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27733811/proinflammatory-cytokines-decrease-the-expression-of-genes-critical-for-rpe-function
#19
R Krishnan Kutty, William Samuel, Kaifa Boyce, Aswini Cherukuri, Todd Duncan, Cynthia Jaworski, Chandrasekharam N Nagineni, T Michael Redmond
PURPOSE: Proinflammatory cytokines interferon gamma (IFN-γ), tumor necrosis factor alpha (TNF-α), and interleukin-1 beta (IL-1β) secreted by infiltrating lymphocytes or macrophages may play a role in triggering RPE dysfunction associated with age-related macular degeneration (AMD). Binding of these proinflammatory cytokines to their specific receptors residing on the RPE cell surface can activate signaling pathways that, in turn, may dysregulate cellular gene expression. The purpose of the present study was to investigate whether IFN-γ, TNF-α, and IL-1β have an adverse effect on the expression of genes essential for RPE function, employing the RPE cell line ARPE-19 as a model system...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27703308/citrullination-of-glial-intermediate-filaments-is-an-early-response-in-retinal-injury
#20
John W Wizeman, Anthony P Nicholas, Akihito Ishigami, Royce Mohan
PURPOSE: A hallmark of retinal gliosis is the increased detection and modification of the type III intermediate filament (IF) proteins vimentin and glial fibrillary acidic protein (GFAP). Here, we investigated vimentin and GFAP in Müller glia in a mouse model of alkali injury, focusing on the posttranslational modification of citrullination. METHODS: Mice were injured by corneal exposure to 1.0 N NaOH, and eyes were enucleated at different time points following injury...
2016: Molecular Vision
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