Abstract：
:Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are currently known to cause inherited forms of glaucoma with onset before age 20. While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carriers. In particular, FOXC1 genetic variants are associated with a broad range of phenotypes including multiple forms of glaucoma and also systemic abnormalities, especially hearing loss. FOXC1 is a member of the forkhead family of transcription factors and is involved in neural crest development necessary for formation of anterior eye structures and also pharyngeal arches that form the middle ear bones. In this study we review the clinical phenotypes reported for known FOXC1 mutations and show that mutations in patients with reported ocular anterior segment abnormalities and hearing loss primarily disrupt the critically important forkhead domain. These results suggest that optimal care for patients affected with anterior segment dysgenesis should include screening for FOXC1 mutations and also testing for hearing loss.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Gauthier AC,Wiggs JLdoi
10.1016/j.exer.2019.107893subject
Has Abstractpub_date
2020-01-01 00:00:00pages
107893eissn
0014-4835issn
1096-0007pii
S0014-4835(19)30441-5journal_volume
190pub_type
杂志文章,评审abstract：:Contact inhibition is an important mechanism for maintaining corneal endothelium in a non-replicative state. Protein tyrosine phosphatases (PTPs) play a role in regulating the integrity of cell-cell contacts, differentiation, and growth. In this study, we aimed to evaluate whether phosphatases are involved in the main...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2005.03.015
更新日期：2005-11-01 00:00:00
abstract：:The results reported here clearly document changes in the properties and the organization of fiber-cell membrane lipids that occur with age, based on electron paramagnetic resonance (EPR) analysis of lens membranes of clear lenses from donors of age groups from 0 to 20, 21 to 40, and 61 to 80 years. The physical prope...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2015.01.018
更新日期：2015-03-01 00:00:00
abstract：:Several studies have suggested that antioxidants retard the process of cataractogenesis by scavenging free oxygen radicals. The present study sought to assess the efficacy of the antioxidant acetyl-L-carnitine (ALCAR) in preventing selenite-induced cataractogenesis in an experimental setting. The first, in vitro phase...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2006.07.009
更新日期：2006-12-01 00:00:00
abstract：:Iris pigment epithelial (IPE) cells from the anterior segment in the eye are able to suppress activation of bystander responder T cells in vitro. The cultured IPE cells fully suppress proliferation and cytokine production by responder T cells via direct cell-to-cell contact. We have now investigated whether primary cu...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2009.01.011
更新日期：2009-06-01 00:00:00
abstract：:Glaucoma is a leading cause of irreversible blindness worldwide. Lowering intraocular pressure (IOP) is the only strategy documented to delay the appearance and retard the progression of vision loss. One major approach for lowering IOP is to slow the rate of aqueous humor formation by the ciliary epithelium. As discus...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2008.11.005
更新日期：2009-04-01 00:00:00
abstract：:Homocysteine is an amino acid required for the metabolism of methionine. Excess homocysteine is implicated in cardiovascular and neurological disease and new data suggest a role in various retinopathies. Mice lacking cystathionine-beta-synthase (cbs(-/-)) have an excess of retinal homocysteine and develop anatomical a...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2011.12.011
更新日期：2012-03-01 00:00:00
abstract：:Microvascular dysfunctions due to altered interactions between endothelial cells (ECs) and pericytes are key-events in the pathogenesis of diabetic retinopathy. Extracellular vesicles (EVs) derived from mesenchymal stem cells cultured in diabetic-like conditions enter pericytes, cause their detachment and migration, a...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2019.04.015
更新日期：2019-07-01 00:00:00
abstract：:Steady state photoreceptor specific mRNA levels in bovine retina were studied during fetal maturation for five gene transcripts, including rhodopsin, arrestin (S-antigen), rod alpha-subunit of transducin, interphotoreceptor retinoid-binding protein (IRBP) and rod alpha-subunit of cGMP phosphodiesterase in order to und...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1993.1034
更新日期：1993-03-01 00:00:00
abstract：:Arf encodes an important tumor suppressor, p19(Arf), which also plays a critical role to control hyperplasia in the primary vitreous during mouse eye development. In the absence of Arf, mice are born blind and display a phenotype closely mimicking severe forms of the human eye disease, persistent hyperplastic primary ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2016.01.004
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND:Glaucoma is characterized by the neurodegeneration of retinal ganglion cells (RGCs) and the optic nerve. Numerous studies have reported that S100A4 participates in the metastasis of tumor cells and nerve protection. This study was intended to explore the role of S100A4 on RGCs under retinal ischemia-reperfus...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2020.108281
更新日期：2020-12-01 00:00:00
abstract：:Human retinal pigment epithelial cells in culture demonstrate adenylate cyclase activity. It is membrane-bound and modulated by GTP regulatory proteins. It is effectively activated only by beta-adrenergic agonists (L-isoproterenol greater than or equal to L-epinephrine greater than L-norepinephrine) and some prostagla...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(87)80158-6
更新日期：1987-04-01 00:00:00
abstract：:Use has been made of the specific interactions between monoclonal antibodies and the alpha A or alpha B subunits of alpha-crystallin to devise methods for the purification of the intact protein or its subunits. alpha A and alpha B subunits were separated by affinity chromatography on an immobilized monoclonal antibody...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(88)80007-1
更新日期：1988-04-01 00:00:00
abstract：:Müller cells (MC) represent a key element for the metabolic and functional regulation of the vertebrate retina. The aim of the present study was to test the feasibility of a new method for the in-vivo detection and quantification of extrafoveal MC in human retina. We developed a new approach to isolate and analyse ext...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2020.108183
更新日期：2020-10-01 00:00:00
abstract：:Myopia is the most common form of refractive eye disease, and the prevalence is increasing rapidly worldwide. However, the key metabolic alterations in individuals with high myopia are not understood clearly, and serum biomarkers remain to be determined. The objectives of this study were to identify serum biomarkers a...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2019.107737
更新日期：2019-09-01 00:00:00
abstract：:Dark-rearing has been found to slow the rate of retinal degeneration in albino P23H but not S334ter mutant rhodopsin transgenic (Tg) rats. Since eye pigmentation has the same protective slowing effect as dark-rearing in RCS rats, we examined whether eye pigmentation has a comparable slowing effect in the different mut...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2019.107755
更新日期：2019-10-01 00:00:00
abstract：:Small heat shock proteins and alpha-crystallins are related proteins with several common structural and functional properties including homologous amino acid sequences and similar chaperone-like activity. Furthermore, small heat shock proteins and alpha-crystallins are phosphorylated in vivo at serine residues within ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1997.0324
更新日期：1997-08-01 00:00:00
abstract：:Deficient cGMP-phosphodiesterase (cGMP-PDE) activity results in elevated levels of cGMP in the rd retina before any pathological signs are observed. Since the enzyme is present in rd retina, although it is barely activated by light, we determined whether its synthesis starts at the same time as that of cGMP-PDE in nor...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(88)80026-5
更新日期：1988-03-01 00:00:00
abstract：:Conjunctival impression cytology samples from patients with meibomian gland dysfunction (MGD), dry eye (DE), and healthy subjects (CT) were collected for determination of the degree of squamous metaplasia (SM) by PAS-hematoxylin staining and for comparative proteomic analyses by 2D-DIGE. The protein spots with discrim...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2017.03.006
更新日期：2018-02-01 00:00:00
abstract：:Understanding how tissues and organs acquire and maintain an appropriate size and shape remains one of the most challenging areas in developmental biology. The eye lens represents an excellent system to provide insights into regulatory mechanisms because in addition to its relative simplicity in cellular composition (...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2016.04.009
更新日期：2017-03-01 00:00:00
abstract：:Rat lenses incubated in tissue culture medium (M 199) maintain their transparency for a long period of time. The soluble corticosteroid, solumedrol (methyl prednisolone sodium succinate) was added to the medium, at concentrations including the range expected during rejection episodes following organ transplantation (3...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(83)90150-1
更新日期：1983-07-01 00:00:00
abstract：:The purpose of the study was to determine histologic findings after successful laser trabeculoplasty in eyes with glaucoma. Previous studies have examined eyes in which laser did not lower intraocular pressure, or examined only the region of the laser burn itself. Nineteen autopsy eyes from 14 donors with either prima...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2007.07.009
更新日期：2007-10-01 00:00:00
abstract：:A lesion in cGMP metabolism has been hypothesized to cause retinal degeneration in rd mice. Available cloned cDNAs coding for proteins involved in the cGMP cascade have been used to compare the corresponding retinal RNAs in the degenerative (rd/rd) mouse at 8-11 days with those in the 8-11-day-old morphologically norm...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(87)80058-1
更新日期：1987-10-01 00:00:00
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...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2019.03.002
更新日期：2019-05-01 00:00:00
abstract：:Previous studies suggest that an alpha 2-related isoform of the catalytic subunit is predominant in the lens fiber cells. The alpha 1 isoform is predominant in the lens epithelium (Garner, Horwitz and Enomoto, 1992). Data are presented to show that strophanthidin-sensitive K+ transport is sustained by both of these le...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1994.1068
更新日期：1994-06-01 00:00:00
abstract：:The central retinal artery (CRA) is the main vessel for inner retinal oxygen and nutrition supply. While the intraocular branches lack autonomic innervation, the innervation pattern of the extra-ocular part of this vessel along its course within the optic nerve is poorly investigated. This part however is essential fo...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2012.11.020
更新日期：2013-05-01 00:00:00
abstract：:The ocular hypotensive effect of topically applied prostaglandins (PGs) is well documented. Although PGs introduced in the posterior chamber accumulate in the anterior tissues (e.g. iris/ciliary complex), little is known about the metabolism of PGs by these tissues. We have recently found that non-pigmented epithelial...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(92)90202-4
更新日期：1992-08-01 00:00:00
abstract：:Hypoxia inducible factor (HIF) regulates expression of over 60 genes by binding to hypoxia response elements (HRE) located upstream of the transcriptional start sites. Many genes encoding proteins involved in iron transport and homeostasis are regulated by HIF. Expression of iron handling proteins can also be translat...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2014.05.010
更新日期：2014-08-01 00:00:00
abstract：:Iron is an essential biometal in the aqueous humor, the principal source of nutrients for the avascular cornea and the lens. Here, we explored whether the ciliary body (CB), the source of aqueous humor, transports iron, and if the prion protein (PrPC) facilitates this process as in the outer retina. Using a combinatio...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2018.05.031
更新日期：2018-10-01 00:00:00
abstract：:Angiotensin II and aldosterone are the main effectors of the renin-angiotensin aldosterone system (RAAS) and have a central role in hypertension as well as cardiovascular and renal disease. The localization of RAAS components within the retina has led to studies investigating the roles of angiotensin II, aldosterone a...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2019.107766
更新日期：2019-10-01 00:00:00
abstract：:Müller cells can completely repair retinal injury by acting as endogenous stem/progenitor cells in lower-order vertebrates. However, a safe and effective approach to activate progenitor potential of retinal Müller cells in higher-order vertebrates, which rarely re-enter the cell cycle, is a bottleneck problem. In the ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2015.01.008
更新日期：2015-03-01 00:00:00
