Abstract：
PURPOSE:To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). METHODS:Thirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previously reported ZEB1 missense mutations associated with FECD were generated and transiently transfected into a corneal endothelial cell line. Protein abundance was determined by immunoblotting, while intracellular localization was determined by fluorescence confocal microscopy. RESULTS:Three of the 13 ZEB1 truncated mutants, and none of the missense mutants, showed significant decrease in mutant ZEB1 protein levels. Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 kilodaltons. The two largest mutant proteins that lacked a putative nuclear localization signal (NLS), p.(Ser638Cysfs*5) and p.(Gln884Argfs*37), primarily localized to the cytoplasm, while the NLS-containing mutant proteins, p.(Glu997Alafs*7) and p.(Glu1039Glyfs*6), primarily localized to the nucleus. All the missense ZEB1 mutant proteins were exclusively present in the nucleus. CONCLUSIONS:ZEB1 truncating mutations result in a significant decrease and/or impaired nuclear localization of the encoded protein, indicating that ZEB1 haploinsufficiency in PPCD3 may result from decreased protein production and/or impaired cellular localization. Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Chung DW,Frausto RF,Ann LB,Jang MS,Aldave AJdoi
10.1167/iovs.14-15247subject
Has Abstractpub_date
2014-09-04 00:00:00pages
6159-66issue
10eissn
0146-0404issn
1552-5783pii
iovs.14-15247journal_volume
55pub_type
杂志文章abstract：:The definition and diagnostic criteria of dry eye disease (DED) proposed by the Japan Dry Eye Society and other countries are reviewed. The first definition and criteria of DED in Japan were proposed in 1995. In that report, DED was considered a disease of tears, which subsequently damaged ocular epithelia. The presen...
journal_title：Investigative ophthalmology & visual science
pub_type： 历史文章,杂志文章,评审
doi：10.1167/iovs.17-23475
更新日期：2018-11-01 00:00:00
abstract：Purpose:The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods:Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, exte...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20427
更新日期：2017-02-01 00:00:00
abstract：:Freshly enucleated monkey, calf, and human eyes were quantitatively perfused with mock aqueous humor through the anterior chamber by a constant pressure technique. After baseline perfusion at 15 mm Hg, intraocular pressure was raised to 45 mm Hg and later reduced back to 15 mm Hg. Calf and human (both adult and infant...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-12-01 00:00:00
abstract：:Intracameral perfusion with 4 to 6 mM Na2EDTA or 4 mM EGTA for 40 to 80 min caused a very large increase in gross outflow facility. This effect was partly reversible when followed by perfusion with mock aqueous humor. Eyes perfused with Na2EDTA were studied morphologically. In the trabecular meshwork the cells separat...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-05-01 00:00:00
abstract：:Sodium removal from the solution bathing the isolated rabbit corneal endothelium caused a reduction in both unidirectional and net flux of bicarbonate, whereas chloride withdrawal from the solution had no effect on the net bicarbonate flux but increased the unidirectional fluxes. These data correlate with previously p...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1981-10-01 00:00:00
abstract：PURPOSE:Videokeratography of early keratoconus may be difficult to distinguish from contact lens-induced corneal warpage, even by experienced examiners. Furthermore, topographic irregularity may be judged inconsistently if quantitative standards are not applied. Quantitative measures based on videokeratographic data we...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-12-01 00:00:00
abstract：:Photoreceptors can segregate inner segment proteins from outer segment proteins. It is uncertain whether such a sorting process occurs during disc morphogenesis in rods, thereby resulting in an outer segment plasma membrane which differs compositionally from the discs. In this study, the plasma membranes of intact, pu...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
abstract：PURPOSE:Leber congenital amaurosis (LCA) is a group of childhood-onset retinal diseases characterized by severe visual impairment or blindness. One form is caused by mutations in the RPE65 gene, which encodes the retinal pigment epithelium (RPE) isomerase. In this study, the retinal structure and expression of molecula...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-5213
更新日期：2010-12-01 00:00:00
abstract：PURPOSE:To determine whether the severity of glaucomatous damage in eyes with pseudoexfoliative (PEX) glaucoma is related to the amount of PEX material in the trabecular meshwork. METHODS:Trabecular meshwork and optic nerves from 19 eyes (11 donors) with PEX syndrome were studied. Eyes were chosen to represent all sta...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1997-11-01 00:00:00
abstract：PURPOSE:To assess cross-sectional and longitudinal associations between exposure to Chlamydia pneumoniae infection and age-related macular degeneration (AMD) in the nested case-control sample drawn from the Blue Mountains Eye Study (BMES) cohort. METHODS:The BMES examined 3654 persons aged 49 to 97 years during 1992 t...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-1434
更新日期：2007-09-01 00:00:00
abstract：PURPOSE:Angioscotomas are scotomata caused by vessel shadows. Their extent may be influenced by physiological and pharmacologic conditions and disease. In this study, the authors quantified angioscotomas in normal subjects using a fundus perimetry technique with a scanning laser ophthalmoscope. They further investigate...
journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1996-10-01 00:00:00
abstract：PURPOSE:To demonstrate the conjunctival alterations in patients with Sjögren's (SSDE) and non-Sjögren's syndrome dry eye (NSSDE) using a new generation confocal microscope (HRTII/ RCM; Heidelberg Engineering, Heidelberg, Germany), in a prospective controlled study. METHODS:Twenty-eight right eyes of 28 patients with S...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-2722
更新日期：2010-01-01 00:00:00
abstract：PURPOSE:Conventional time-domain optical coherence tomography (OCT) has been shown to provide reproducible retinal nerve fiber layer (RNFL) measurements. Recently, high-speed, high-resolution Fourier-domain 3D-OCT has been introduced to improve OCT quality. It can provide 6-mm(2) high-density scans to provide RNFL thic...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-1435
更新日期：2008-12-01 00:00:00
abstract：:The secretion of the aqueous humor has been proposed to occur as the result of active Na+ transport by a ouabain-sensitive Na-K ATPase. We have examined the localization of this enzyme in the epithelium of rabbit ciliary body pars plicata using [3H]ouabain autoradiography. Single ciliary processes were isolated and in...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1988-04-01 00:00:00
abstract：PURPOSE:To investigate the responses of retinal ganglion cells (RGCs) to electrical stimulation, using electrodes comparable in size to those used in human studies investigating the feasibility of an electronic retinal prosthesis. METHODS:Rabbit retinas were stimulated in vitro with current pulses applied to the inner...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.04-1018
更新日期：2005-04-01 00:00:00
abstract：:As part of an ophthalmic and anthropometric survey of two free-breeding rhesus monkey (Macaca mulatta) populations, intraocular pressure (IOP) of 114 animals was measured under ketamine catalepsia with the use of a floating-tip pneumatonometer. The mean IOP of the 102 animals included in the main analyses was 14.9 +/-...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1979-08-01 00:00:00
abstract：PURPOSE:To investigate the use of topically applied FK506, a new immunosuppressive compound, systemic and ocular absorption was determined in serum and various ocular tissues. METHODS:Two drops of 20 microliters FK506 were applied using oil dissolved (OD-FK506) or liposome-bound (LIP-FK506) drug. FK506 concentrations ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
abstract：PURPOSE:To increase knowledge of the biochemical composition of lenticular exfoliation material (XFM) by using proteomic approaches. METHODS:Anterior lens capsules from patients with and without exfoliation syndrome (XFS) were homogenized in formic acid and subjected to cyanogen bromide (CNBr) cleavage, and the patter...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0411
更新日期：2007-04-01 00:00:00
abstract：:Inoculation of the neurotropic coronavirus mouse hepatitis virus strain JHM intravitreally or into the anterior chamber causes acute infection of the retinal pigment epithelium (RPE) and neural retina. Weeks later, many retinas have foci of moderate to severe atrophy. The effect of coronavirus infection (after intravi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
abstract：PURPOSE:To investigate a depolarizing layer that is visible in polarization-sensitive optical coherence tomography (PS-OCT) images of the retina. To identify this layer and characterize its depolarizing effect quantitatively. METHODS:Ten healthy human subjects (mean age, 31 +/- 8 years) and two patients with RPE disea...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.05-1589
更新日期：2006-12-01 00:00:00
abstract：:The scleral spur and trabecular mesh of the human eye contain approximately 5% elastic tissue. Elastic tissue forms less than 2% of the sclera. ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1978-08-01 00:00:00
abstract：:PURPOSE. To investigate the effects and possible mechanisms of rat bone marrow mesenchymal stem cell (BMSC) transplantation on the light-damaged retinal structure and the apoptosis of photoreceptors. METHODS. DAPI-labeled BMSCs were transplanted into the subretinal space of light-damaged Sprague-Dawley rats 10 days af...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-3314
更新日期：2010-07-01 00:00:00
abstract：PURPOSE:Increased stromal accumulation of macrophages and submucosal fibrosis due to excessive accumulation of collagens are central histologic features in ocular cicatricial pemphigoid (OCP). Interleukin (IL)-4 plays an important role in both the inflammatory and fibrotic events in several human and experimental disea...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.02-1084
更新日期：2003-08-01 00:00:00
abstract：PURPOSE:Activity in regions of the visual cortex corresponding to central scotomas in subjects with macular degeneration (MD) is considered evidence for functional reorganization in the brain. Three unresolved issues related to cortical activity in subjects with MD were addressed: Is the cortical response to stimuli pr...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-4926
更新日期：2010-12-01 00:00:00
abstract：PURPOSE:To investigate effects of aging on endothelial nitric oxide synthase (eNOS) expression and signaling in angular aqueous plexus (AAP) (functional equivalent to human Schlemm's canal) cells subjected to shear stress. METHODS:The AAP cells were isolated differentially from porcine outflow tissues using puromycin ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-14992
更新日期：2014-11-06 00:00:00
abstract：:Lateral heterophoria at distance often is cited as an index of tonic vergence, yet recent research has shown that vergence in darkness is more convergent than most measures of phoria. Two experiments were conducted to investigate the possible role of accommodation in this discrepancy. Experiment I compared measures of...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1992-08-01 00:00:00
abstract：Purpose:To investigate the difference in intraocular vascular endothelial growth factor (VEGF) concentration between pachychoroid neovasculopathy and neovascular age-related macular degeneration (nAMD) and its associations with responses to three monthly anti-VEGF injections as an initial treatment for the two conditio...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20967
更新日期：2017-01-01 00:00:00
abstract：PURPOSE:To examine the signal transduction pathways involved in the activation of orbital fibroblast effector functions relevant to the pathogenesis of Graves' ophthalmopathy (GO). To determine, using antisense technology, whether the c-myc protooncogene is involved in cell proliferation and glycosaminoglycan (GAG) syn...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
abstract：PURPOSE:To evaluate the potential role that FoxO transcription factors play in modulating resveratrol's protective effects against oxidative stress in lens epithelial cells. METHODS:Primary human or porcine lens epithelial cells (LECs) were treated with resveratrol (RES) 25 μM and incubated under either physiologic (5...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-6652
更新日期：2011-06-21 00:00:00
abstract：PURPOSE:To investigate the role of intralysosomal redox-active iron in oxidative stress-induced damage in trabecular meshwork (TM) cells. METHODS:Chronic oxidative stress was applied using the hyperoxic model; acute oxidative stress was applied with H(2)O(2). Microarray analysis was performed using microarrays. mRNA a...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-5410
更新日期：2010-12-01 00:00:00
