Abstract：
:The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations. We investigated a total of 12 families (five British, four Czech, one Slovak and two Swiss). Ten novel and two recurrent disease-causing mutations in ZEB1, were identified in probands by Sanger (n = 5), exome (n = 4) and genome (n = 3) sequencing. Sanger sequencing was used to confirm the mutations detected by massively parallel sequencing, and to perform segregation analysis. Genome sequencing revealed that one proband harboured a novel ∼0.34 Mb heterozygous de novo deletion spanning exons 1-7 and part of exon 8. Transcript analysis confirmed that the ZEB1 transcript is detectable in blood-derived RNA samples and that the disease-associated variant c.482-2A>G leads to aberrant pre-mRNA splicing. De novo mutations, which are a feature of PPCD3, were found in the current study with an incidence rate of at least 16.6%. In general, massively parallel sequencing is a time-efficient way to detect PPCD3-associated mutations and, importantly, genome sequencing enables the identification of full or partial heterozygous ZEB1 deletions that can evade detection by both Sanger and exome sequencing. These findings contribute to our understanding of PPCD3, for which currently, 49 pathogenic variants have been identified, all of which are predicted to be null alleles.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Dudakova L,Evans CJ,Pontikos N,Hafford-Tear NJ,Malinka F,Skalicka P,Horinek A,Munier FL,Voide N,Studeny P,Vanikova L,Kubena T,Rojas Lopez KE,Davidson AE,Hardcastle AJ,Tuft SJ,Liskova Pdoi
10.1016/j.exer.2019.03.002subject
Has Abstractpub_date
2019-05-01 00:00:00pages
160-166eissn
0014-4835issn
1096-0007pii
S0014-4835(18)30789-9journal_volume
182pub_type
杂志文章abstract：:Two-dimensional 1H NMR spectroscopic studies are presented on bovine gamma S- and gamma B-crystallin. In gamma S-crystallin, the four N-terminal residues have great flexibility compared with the rest of the molecule and assume a random coil conformation. NMR spectroscopy and electrospray mass spectrometry show that th...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1099
更新日期：1994-08-01 00:00:00
abstract：:The transmembrane glycoprotein CD44 is a cell adhesion molecule which has recently been localized in a variety of cell types. It mediates cell attachment to extracellular matrix components and also binds to the actin cytoskeleton within the cell. In this study, the presence and distribution of CD44 in the mouse retina...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1026
更新日期：1994-03-01 00:00:00
abstract：:Docosahexaenoic acid is the major polyunsaturated fatty acid in photoreceptor membrane phospholipids and is thought to be necessary for photoreceptor function. Docosahexaenoic acid may be metabolized to docosanoids or, by retroconversion, to eicosapentaenoic acid followed by lipoxygenation and synthesis of n-3 metabol...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1996.0116
更新日期：1996-09-01 00:00:00
abstract：:Transforming growth factor-beta (TGF-β) is one of the main epithelial-mesenchymal transition (EMT)-inducing factors. In general, TGF-β-induced EMT promotes cell migration and invasion. TGF-β also acts as a potent regulator of pericellular proteolysis by regulating the expression and secretion of plasminogen activators...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2013.06.020
更新日期：2013-10-01 00:00:00
abstract：:Bombina variegata 8 (Bv8), also known as prokineticin-2 (PK-2), is a potent pro-angiogenic factor. However, its role in retinal neovascularization (RNV) remains unknown. In this study, we explored the role of Bv8 in the pathogenesis of RNV. We found that the expression of Bv8 was significantly increased in two differe...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2020.107993
更新日期：2020-04-01 00:00:00
abstract：:Anti-VEGF-directed therapies have been a milestone for treating retinal vascular diseases. Depletion of monocyte lineage cells suppresses pathological neovascularization in the oxygen-induced retinopathy mouse model. However, the question whether myeloid-derived VEGF-A expression is responsible for the pathogenesis in...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2017.10.011
更新日期：2018-01-01 00:00:00
abstract：:Exposure of the rabbit lens, in vitro, to 10(-3) M-hydrogen peroxide resulted in an increase of the lens sodium, calcium and water content together with a decrease of the lens potassium content. No such changes were observed in the presence of 10(-4) or 10(-5) M-hydrogen peroxide. 10(-3) M-hydrogen peroxide was observ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(83)90148-3
更新日期：1983-07-01 00:00:00
abstract：:Liquid protein diets have been widely used in the United States to control weight gain. Pregnant rats were fed a standard casein diet in which liquid protein was substituted for the protein portion; all other necessary nutrients were supplied. The average incidence of cataracts in the offspring from mothers fed liquid...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(83)90071-4
更新日期：1983-08-01 00:00:00
abstract：:The chelating agent Na2EDTA was perfused through the anterior chambers of monkeys eyes in an attempt to find a concentration that would cause a rise in outflow facility without harming the cornea or anterior uvea. Na2EDTA (0.5 mM) proved effective in increasing the facility within 60 min. There were marked effects on ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(87)80002-7
更新日期：1987-02-01 00:00:00
abstract：:Eyes with age-related macular degeneration (AMD) demonstrate accumulation of specific deposits and extracellular matrix (ECM) molecules under the retinal pigment epithelium (RPE). AMD is about two times more prevalent in aging postmenopausal women. Therefore we studied whether 17beta-estradiol (E(2)) modulates the exp...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2008.01.010
更新日期：2008-04-01 00:00:00
abstract：:In the neural retina, glial cells control formation of ionic gradients by mediating transmembrane water fluxes through aquaporin (AQP) water channels. Retinal content and immunolocalization of two water channels, AQP1 and AQP4, in the diabetic rat retinas during high-salt loading were examined in this study. Diabetes ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2009.06.020
更新日期：2009-11-01 00:00:00
abstract：:Bovine corneal endothelial cells in culture bind internalize and degrade [125I]-trypsin. Binding involves the active site of trypsin and increases as a function of [125I]-trypsin concentration. Saturation is observed at a concentration of 0.5-1.0 micrograms ml-1. The cell surface binding of [125I]-trypsin is specific:...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(85)90139-3
更新日期：1985-05-01 00:00:00
abstract：:Aquaporin-0 (AQP0), the major integral membrane protein in lens fiber cells, becomes highly modified with increasing age. The functional consequences of these modifications are being revealed, and the next step is to determine how these modifications affect the ocular lens, which is directly related to their abundance...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2011.10.007
更新日期：2011-12-01 00:00:00
abstract：:The present study was undertaken to develop a new animal model of subretinal neovascularization that does not involve traumatic manipulation of the eye. Using this model, the mechanism of subretinal neovascularization and its penetration through Bruch's membrane, and the various factors that contribute to this process...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1003
更新日期：1994-02-01 00:00:00
abstract：:This study presents a computational model of the growth of the normal human lens and the induction of spoke-like cortical cataract in the aging lens. The anterior lens is modelled as a 2-D disk with a circumferential germinative zone. Lens cortical fibre cells in the same generation cover the surface in three identica...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2000.0883
更新日期：2000-09-01 00:00:00
abstract：:The ocular lens is surrounded by the lens capsule, which is an elastic and unusually thick basal membrane. Anionic sites are thought to be responsible for charge-selective permeability barriers in basal membranes. We have used cationic colloidal gold as a tracer for anionic binding sites to investigate the distributio...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2000.0952
更新日期：2001-03-01 00:00:00
abstract：:Myopia (short-sightedness) is a visual problem associated with excessive eye growth and vitreous chamber expansion. Within the eye serotonin (5-hydroxytryptamine, 5-HT) appears to have a variety of effects, it alters retinal amacrine cell processing, increases intraocular pressure, constricts ocular blood vessels, and...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2005.03.021
更新日期：2005-11-01 00:00:00
abstract：:The purpose of this study was to evaluate the inhibitory activity of the heparan sulfate suleparoide on vascular cell growth in vitro and angiogenesis in vivo. Human HUV-EC-C endothelial cell proliferation and microvessel sprouting from cultured rat aortic rings were assayed by the bioreduction of 3-[4,5-dimethylthiaz...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1998.0512
更新日期：1998-08-01 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：:Harmonic analysis was used to characterize the rabbit flicker ERG elicited by sinusoidally modulated full-field stimuli under light-adapted conditions. The frequency-response function for fundamental amplitude, derived from Fourier analysis of the ERG waveforms, exhibited two limbs, with an amplitude minimum at approx...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2010.10.005
更新日期：2010-12-01 00:00:00
abstract：:Rhegmatogenous retinal detachment is by far the most common indication for retinal surgery and a major cause of severe vision loss. Increased levels of glutamate found in the vitreous of human patients and persistent remodeling, even after reattachment, suggest substantial neurochemical, functional and anatomical chan...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2012.02.009
更新日期：2012-04-01 00:00:00
abstract：:Endocannabinoid system involves in neuroprotective effects on the central neural system. The cannabinoid receptor 1 (CB1R) is widely expressed in the mouse retina. However, the role of cannabinoid receptors in the retina remains unclear. In this work, we established a photoreceptor degeneration mouse model via N-methy...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2017.11.001
更新日期：2018-02-01 00:00:00
abstract：:Changes in activities of ascorbate free radical (AFR) reductase (NADH:AFR oxidoreductase) and H2O2-dependent NADH oxidation were correlated with levels of insoluble protein in senile cataractous human lenses. The H2O2-dependent NADH oxidation activity was measured to reflect the content of free glutathione. AFR reduct...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(90)90128-h
更新日期：1990-06-01 00:00:00
abstract：:We sought to characterize the ocular pharmacology, tolerability and intraocular pressure (IOP)-lowering efficacy of FR-190997, a non-peptidic bradykinin (BK) B2-receptor agonist. FR-190997 possessed a relatively high receptor binding affinity (Ki = 27 nM) and a high in vitro potency (EC50 = 18.3 ± 4.4 nM) for inositol...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2014.10.008
更新日期：2014-11-01 00:00:00
abstract：:The pre-retinal vitreous space of the eye of albino rabbits was perfused in vivo via a dialysis probe in order to measure the concentration of endogenous amino acids. Studies of isotope concentrations in the vitreal effluent following intracarotid injections of 3HOH and [14C]mannitol demonstrated that entrance of 3HOH...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(87)80008-8
更新日期：1987-02-01 00:00:00
abstract：:Various concentrations of three dopamine antagonists (fluphenazine, haloperidol and sulpiride) with different affinities to the receptor subtypes were applied in order to test their effect on responses from outer (isolated PIII-component of the ERG), middle (b-wave) and inner (optic nerve response, ONR) retinal layers...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(91)90038-g
更新日期：1991-04-01 00:00:00
abstract：:A long-term culture of choriocapillary endothelial cells (CCE) from bovine eyes has been established. We developed a micromanipulative technique with a dissecting microscope for isolation of choriocapillary sheets after a prolonged trypsinization of choroid tissues. We then used a cell sweeping technique to ensure a c...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1993.1096
更新日期：1993-07-01 00:00:00
abstract：:γ-secretase inhibitor has been shown to promote intestinal goblet cell differentiation. We now demonstrated that the in vitro addition of γ-secretase inhibitor in the culture of human conjunctival epithelial cells significantly promoted the differentiation of conjunctival goblet cells with typical droplet-like phenoty...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2014.04.001
更新日期：2014-06-01 00:00:00
abstract：:The use of murine 3T3 feeder cells needs to be avoided when fabricating corneal epithelial cell sheets for use in treating ocular surface diseases. However, the expression level of the epithelial stem/progenitor cell marker, p63, is down-regulated in feeder-free culture systems. In this study, in order to fabricate co...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2013.10.019
更新日期：2014-01-01 00:00:00
abstract：:The transport kinetics across the plasma-ocular barriers of labeled molecules including urea, D-glucose, 3-0-methyl-D-glucose, L-glucose, and sucrose were studied in adult RCS rats and compared to control albino Sprague-Dawleys (SD). Results indicate that substances that passively cross the plasma-aqueous and plasma-v...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(83)90156-2
更新日期：1983-09-01 00:00:00
