Abstract：
:Identification of causal genetic defects for human diseases took a significant leap when the first generation DNA sequencing technologies enabled biologists extract sequence-based genetic information from living beings. However, these sequencing methods had unavoidable constraints of throughput, scalability, rapidity, and resolution. In this direction, next-generation sequencing (NGS) since the time of its advent has revolutionized the process of gene discovery for both monogenic and multifactorial genetic diseases. Among several variations of NGS, whole exome sequencing (WES) has emerged as a smart strategy that enables identification of disease causing variants present within the coding region of the human genome. The current review focuses primarily on the application of WES in identification of causal variants for ocular diseases. WES has successfully revealed pathogenic variants in a variety of ocular diseases such as retinal degenerations, refractive errors, lens diseases, corneal dystrophies, and developmental ocular defects. It has demonstrated immense potential for molecular diagnosis of genetic ocular diseases. WES has been extensively used in Mendelian and complex cases, familial and sporadic cases, simplex and multiplex cases, and syndromic and non-syndromic cases of ocular diseases. Although many such ocular diseases have been investigated using WES, reports indicate that it has been employed overwhelmingly for heterogeneous retinal degenerations. WES, within a short period of time, has proved to be a cost-effective and promising approach for understanding the genetic basis of ocular diseases.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Gupta S,Chatterjee S,Mukherjee A,Mutsuddi Mdoi
10.1016/j.exer.2017.08.013subject
Has Abstractpub_date
2017-11-01 00:00:00pages
139-150eissn
0014-4835issn
1096-0007pii
S0014-4835(17)30419-0journal_volume
164pub_type
杂志文章,评审abstract：:We investigated the pharmacological actions of hydrogen sulfide (H(2)S) using sodium hydrosulfide (NaHS) and sodium sulfide (Na(2)S) as donors on isolated porcine irides in the presence of tone induced by muscarinic receptor stimulation. Furthermore, we also investigated the mechanism of action of H(2)S in this smooth...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2008.09.011
更新日期：2008-12-01 00:00:00
abstract：:A dark reaction is known to occur in retinal extracts of the gecko (Gekko gekko), in which the natural 11-cis-chromophore of the 521-pigment is apparently replaced by adding 9-cis-retinal to form the 9-cis-photopigment. With chloride-deficient extracts the reaction involves some 70% of the 521-pigment. Anions like nit...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(89)90074-2
更新日期：1989-07-01 00:00:00
abstract：:Eosinophil infiltration is one of the aspects of the inflammatory response to an allergen. The aim of this study was to establish T-helper type-2 (Th2)-induced conjunctival eosinophilia in mice to evaluate the effect of anti-allergic drugs. Th2 clone, D10.G4.1. (D10) with its specific antigen, conalbumin was co-inject...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1999.0677
更新日期：1999-07-01 00:00:00
abstract：:Both in vivo and in vitro models were employed in the present study to assess the relative contribution of osmotic stress and increasing calcium levels to the development of sugar cataracts. In galactose cataract obtained from galactosemic weanling rats, the concentration of total calcium increased by nearly 10% at th...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1998.0486
更新日期：1998-06-01 00:00:00
abstract：:In the present study we have investigated retinal pigment epithelium-photoreceptor cell interactions in vitro, and their contributions to photoreceptor cell survival and differentiation. Preparations enriched for intact photoreceptor cells from neonatal rat retina were grown in either serum-free medium supplemented wi...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(92)90020-s
更新日期：1992-05-01 00:00:00
abstract：:Corneal epithelial injury induces release of endogenous metabolites that are cannabinoid receptor 1 (CB1) and transient receptor potential vanilloid 1 (TRPV1) agonists. We determined the functional contributions by CB1 and TRPV1 activation to eliciting responses underlying wound healing in human corneal epithelial cel...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2010.06.022
更新日期：2010-09-01 00:00:00
abstract：:Previous studies in the laboratory have shown that platelet-activating factor (PAF), a potent inflammatory mediator that accumulates rapidly in the cornea after an injury, stimulates the expression of urokinase (uPA) and matrix metalloproteinase-1 (MMP-1) and -9 (MMP-9). Tissue inhibitors of MMPs (TIMPs) and plasminog...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2001.1135
更新日期：2002-03-01 00:00:00
abstract：:Apoptosis, a cellular process critical to retinal neurogenesis, has been implicated in several neurodegenerative disorders. As the retina matures the suppression of apoptosis occurs and the emphasis shifts towards survival. To identify the cellular changes that bring about this critical shift in the balance, we perfor...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2006.08.007
更新日期：2006-12-01 00:00:00
abstract：:An investigation was undertaken to expand the data base for elemental concentrations within eye tissues of different species. This report provides data on the distribution of calcium, copper, iron and zinc in human, dog, bovine, bird, amphibian and fish ocular tissues. The variation between different eyes of the same ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(83)90138-0
更新日期：1983-12-01 00:00:00
abstract：:Antibiotics such as fluoroquinolones (FQLs) are commonly used to treat ocular infections but are also known to cause dermal melanocyte toxicity. The release of dispersed pigments from the iris into the aqueous humor has been considered a possible ocular side effect of the systemic administration of FQLs such as Moxifl...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2017.07.006
更新日期：2017-09-01 00:00:00
abstract：:Previous studies have suggested that a mannose receptor mediates the phagocytic uptake of effete rod outer segments by retinal pigment epithelial cells. In the present study, the effect of adding a soluble ligand for the mannose receptor, horseradish peroxidase, was examined. Cultured retinal pigment epithelial cells ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(05)80144-7
更新日期：1995-10-01 00:00:00
abstract：:This study was undertaken to develop a feline model of corticosteroid-induced ocular hypertension. In the first experiment, eight cats were selected whose intraocular pressure (17 +/- 0.4 mmHg) was consistently below the mean baseline intraocular pressure of our colony (24 +/- 0.5) during the preceding 2 months. Unila...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(05)80210-6
更新日期：1992-02-01 00:00:00
abstract：:The CLN2 form of neuronal ceroid lipofuscinosis is an autosomal recessively inherited lysosomal storage disease that is characterized by progressive vision loss culminating in blindness, cognitive and motor decline, neurodegeneration, and premature death. CLN2 disease results from mutations in the gene that encodes th...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2015.02.012
更新日期：2015-05-01 00:00:00
abstract：:The ocular lens fiber cell assembles a novel cytoskeletal element, the Beaded Filament, from CP49 and filensin, two proteins expressed only in the differentiated lens fiber cell. We report the primary sequence, secondary structural analysis, gene structure and Yeast Two Hybrid interaction data for human filensin, and ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1998.0478
更新日期：1998-05-01 00:00:00
abstract：:Tenon's fibroblast (TF) bleb encapsulation is a common cause of filtering surgery failure. Various pharmacologic agents have been used in an attempt to inhibit this response. The effects of three angiogenesis inhibitors were studied. AGM-1470, a fumagillin analog and hydrocortisone 21-phosphate (HC21P) complexed with ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1037
更新日期：1994-04-01 00:00:00
abstract：:miRs play critical roles in oxidative stress-related retinopathy pathogenesis. miR-365 was identified in a previously constructed library from glyoxal-treated rat Müller cell. This report explores epigenetic alterations in Müller cells under oxidative stress to develop a novel therapeutic strategy. To examine the miR-...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2017.11.006
更新日期：2018-03-01 00:00:00
abstract：:Inadequate cross-linking between collagen lamellae is a characteristic feature of keratoconus corneas. The formation of covalent bonds between collagen and elastin fibrils, which maintain the biomechanical properties of the cornea, is mediated by the cuproenzyme lysyl oxidase and four lysyl oxidase-like enzymes. The a...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2012.09.005
更新日期：2012-11-01 00:00:00
abstract：:Rho GTPase regulated contractile signaling in the trabecular meshwork (TM) has been shown to modulate aqueous humor (AH) outflow and intraocular pressure (IOP). To explore whether elevated IOP, a major risk factor for primary open angle glaucoma (POAG) influences Rho GTPase signaling in the TM, we recorded AH outflow ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2015.05.001
更新日期：2015-07-01 00:00:00
abstract：:Corneal epithelial (CE) cells are exposed to environmental insults (e.g., UV-irradiation), yet they suffer little damage. Our previous studies suggest that chicken CE cells have a novel form of protection involving having ferritin in a nuclear location where it can bind to DNA and sequester free iron. Here we describe...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2016.02.002
更新日期：2016-04-01 00:00:00
abstract：:This study of lens protein composition found that some cytoskeletal proteins were degraded during the earliest stages of cataract formation. Cataract was induced in 13-14 day old rats by a single subcutaneous injection of sodium selenite (19 mumol kg-1). By 24 hr after the injection of selenite, the ratio of insoluble...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1996.0220
更新日期：1997-03-01 00:00:00
abstract：:The objective of this study was to determine the cellular localization of P2Y(2) receptor gene expression in rabbit and primate ocular tissues using the technique of non-isotopic in situ hybridization. Fresh frozen whole eye from a New Zealand White rabbit and whole eye and eyelid from a rhesus macaque were cut into 5...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(03)00068-x
更新日期：2003-07-01 00:00:00
abstract：:Rat retinas were labeled either by intravitreal injection of [14C]leucine or by incubation with [3H]-leucine or [35S]-methionine. Subcellular fractions were prepared on linear sucrose gradients and rhodopsin was extracted with detergent and purified by chromatography on ConA-Sepharose. A fraction enriched in rough end...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(89)90007-9
更新日期：1989-05-01 00:00:00
abstract：PURPOSE:To characterize multilamellar bodies (MLBs), determine their distribution along the optic axis and predict their potential Mie scattering within human age-related nuclear cataracts. Previous studies restricted to the equatorial plane have shown that MLBs are rare spherical objects that are 1-4 microm in diamete...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2004.05.017
更新日期：2004-10-01 00:00:00
abstract：:Diabetic retinopathy is a sight-threatening complication of diabetes, characterized by loss of retinal pericytes and abnormal angiogenesis. We previously demonstrated that extracellular vesicles (EVs) derived from mesenchymal stem cells cultured in diabetic-like conditions are able to enter the pericytes, causing thei...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2018.07.003
更新日期：2018-11-01 00:00:00
abstract：:Loss of vision in severe retinal degenerations often is a result of photoreceptor cell or retinal pigment epithelial cell death or dysfunction. Cell replacement therapy has the potential to restore useful vision for these individuals especially after they have lost most or all of their light-sensing cells in the eye. ...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2013.07.010
更新日期：2014-06-01 00:00:00
abstract：:The purpose of this study was to investigate the influence of hyperoxia and hypercapnia on fundus pulsations in the macular and optic disc region and determine a potential autoregulative capacity of the choroid under these conditions. In a randomized cross-over study 100% O2 and a mixture of 5% CO2 with air was inhale...
journal_title：Experimental eye research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0014-4835(05)80019-3
更新日期：1995-12-01 00:00:00
abstract：:The development of a synthetic material allowing increased cellular adhesion and ingrowth would improve keratoprosthetic devices and requires an understanding of cell colonization processes. Interlamellar implantation of hydrophobic synthetic material may lead to poor corneal nutrition with subsequent necrosis. The pr...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1193
更新日期：1994-01-01 00:00:00
abstract：:Thioltransferase (TTase) activity was identified and partially purified from the ocular tissue for the first time. The enzyme activity depended on the presence of reduced glutathione (GSH), glutathione reductase (GR) and NADPH to reduce the disulfide bond in a synthetic substrate, hydroxyl ethyl disulfide (HEDS). Maxi...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1996.0133
更新日期：1996-10-01 00:00:00
abstract：:The purpose of this study was to investigate the impact of different diffusion times of mitomycin-C (MMC) on the intrascleral concentration vs depth profile of MMC in an experimental model. Scleral quadrants of eight human donor eyes were exposed to sponges soaked with MMC for an application time of 1 min. After irrig...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2000.0901
更新日期：2000-11-01 00:00:00
abstract：:The mechanisms by which sulfhydryl (SH-) binding reagents modulate the light-sensitive conductance of retinal rods were investigated by current recording from single rods, by patch clamp recording from the plasma membrane of the rod outer segment (ROS), and by biochemical study of their effects on the light-induced hy...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(90)90176-u
更新日期：1990-07-01 00:00:00
