Abstract：
PURPOSE:FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functional consequences of the FOXC1 W152G mutation. METHODS:Site-directed mutagenesis was used to introduce the W152G mutation into the FOXC1 complementary DNA. The levels of W152G protein expression and the functional abilities of the mutant protein were determined. RESULTS:After screening for mutations in PAX6, CYP1B1, and FOXC1, a novel FOXC1 W152G mutation was identified in a newborn boy with aniridia and congenital glaucoma. Molecular analysis of the W152G mutation revealed that the mutant protein has severe molecular consequences in FOXC1, including defects in phosphorylation, protein folding, DNA-binding ability, inability to transactivate a reporter gene, and nuclear localization. Although W152G has molecular defects similar to those of the previously studied FOXC1 L130F mutation, W152G causes a more severe phenotype than L130F. Both the W152G and the L130F mutations result in the formation of protein aggregates in the cytoplasm. However, unlike the L130F aggregates, the W152G aggregates do not form microtubule-dependent inclusion bodies, known as aggresomes. CONCLUSIONS:Severe molecular consequences, including the inability of the W152G protein aggregates to form protective aggresomes, may underlie the aniridia phenotype that results from the FOXC1 W152G mutation.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Ito YA,Footz TK,Berry FB,Mirzayans F,Yu M,Khan AO,Walter MAdoi
10.1167/iovs.08-3032subject
Has Abstractpub_date
2009-08-01 00:00:00pages
3573-9issue
8eissn
0146-0404issn
1552-5783pii
iovs.08-3032journal_volume
50pub_type
杂志文章abstract：:Retinal ultrastructure was examined at various intervals following a single intravitreal injection of 100-4,000 micrograms of gentamicin in rabbit eyes. Three days after injections of 100-500 micrograms, numerous abnormal lamellar lysosomal inclusions were observed in the retinal pigment epithelium (RPE) and in macrop...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-05-01 00:00:00
abstract：PURPOSE:It is known that the pattern electroretinogram (PERG) of normal subjects is reduced temporarily after short-term elevation of intraocular pressure (IOP). The authors evaluated PERG changes in ocular hypertension during and after transient IOP elevation. METHODS:Steady state (8 Hz) PERGs to sinusoidal gratings ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1996-12-01 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
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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 determine the effect of treatment with latanoprost on the tissue inhibitors of metalloproteinase (TIMP)-1 and -2 in cultured human ciliary muscle (HCM) cells. METHODS:Confluent serum-starved HCM cells were exposed to increasing concentrations of latanoprost acid (LA, 1 nM to 10 micro M) for 6, 18, and 24 ho...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2002-12-01 00:00:00
abstract：PURPOSE:To assess the impact of vitamin A supplementation at 4-month intervals on the prevalence and incidence of xerophthalmia among preschool-age children. METHODS:A stratified, random sample of 40 wards with 4766 children in Sarlahi district of Nepal was selected to participate in a randomized, controlled, communit...
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：1995-12-01 00:00:00
abstract：:Liposomes 0.5 to 5 micron in diameter and of various phospholipid compositions were used as a simplified model of rod outer segment membranes to examine the phagocytic mechanism of cultured explants of retinal dystrophic Royal College of Surgeons (RCS) and normal Long-Evans (LE) rat pigment epithelium. RCS pigment epi...
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:Many genome-wide association studies have identified common single nucleotide polymorphisms (SNPs) at the 9p21 glaucoma locus (CDKN2B/CDKN2B-AS1) to be significantly associated with primary open-angle glaucoma (POAG), with association being stronger in normal tension glaucoma (NTG) and advanced glaucoma. We aim...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-19401
更新日期：2016-06-01 00:00:00
abstract：PURPOSE:To evaluate the physiological characteristics of the macula in patients with Vogt-Koyanagi-Harada disease during the convalescent stage with specific reference to the kinetics of foveal cone photopigment regeneration. METHODS:Six eyes of three patients at the convalescent stage of Vogt-Koyanagi-Harada disease ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.03-0381
更新日期：2004-01-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.62.1.21
更新日期：2021-01-04 00:00:00
abstract：:The lacrimal gland is a functional part of the mucosal immune system and is populated by lymphoid cells that begin to appear early in neonatal development. To define the events controlling the accumulation of these cells, an in vitro adherence assay was used to investigate the interactions of lymphocyte populations wi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1990-08-01 00:00:00
abstract：PURPOSE:To examine the relative prevalence of ocular conditions among children who are unable to perform preschool vision screening tests and the impact on measures of screening test performance. METHODS:Trained nurse and lay screeners each administered a Lea Symbols visual acuity (VA) test (Good-Lite, Inc., Steamwood...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章,多中心研究
doi：10.1167/iovs.06-0384
更新日期：2007-01-01 00:00:00
abstract：Purpose:Epithelial to mesenchymal transition (EMT) is a cause of anterior and posterior subcapsular cataracts. Central to EMT is the formation of actin stress fibers. Selective targeting of actin stress fiber-associated tropomyosin (Tpm) in epithelial cells may be a means to prevent stress fiber formation and repress l...
journal_title：Investigative ophthalmology & visual science
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更新日期：2020-06-03 00:00:00
abstract：PURPOSE:To assess vascular endothelial function in patients with normal pressure glaucoma using forearm blood flow responses to intra-arterial infusions of endothelial-dependent and -independent vasoactive agents. METHODS:Eight patients with newly diagnosed and untreated normal pressure glaucoma and eight healthy age-...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1999-07-01 00:00:00
abstract：:A monoclonal antibody, 4G10.3, was developed that preferentially binds limbal basal cells in adult rat, rabbit, and human corneas. These cells were hypothesized to be the stem cells for the corneal epithelium. The antibody 4G10.3 was localized by immunofluorescence microscopy in rats 1 d and 1, 1.5, 2, 3, 4, and 6 wk ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1992-06-01 00:00:00
abstract：:Transmembrane electrical measurements were performed on the isolated rabbit iris-ciliary body (I-CB) to study the direct effects of halogenated inhalation anesthetic agents on the ciliary epithelium. Addition of either halothane, enflurane, or isoflurane to the control 95% O2:5% CO2 gas mixture resulted in a dose-depe...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：Purpose:We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern. Methods:Fundus autofluorescence lifetime imaging ophthalmoscopy (FLIO) was performed in two spectral channels (498-560 and 560-720 nm) after excitation with a 473 n...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
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更新日期：2018-04-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-05-01 00:00:00
abstract：:Collagen deposition is largely responsible for scar information, an undesirable outcome of glaucoma filtering surgery. Because interferon-gamma (IFN-gamma) has been reported to inhibit collagen synthesis in a variety of cells, the authors examined its effect on collagen synthesis by Tenon's capsule fibroblasts culture...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
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更新日期：2009-08-01 00:00:00
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更新日期：2012-09-12 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-2121
更新日期：2008-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1992-11-01 00:00:00
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更新日期：2010-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1990-10-01 00:00:00
abstract：:Advanced macular degeneration is an important cause of vision loss in the United States with over 2 million people affected by the disease. Despite substantial progress in the development of new therapies for wet AMD, the severe visual impairment associated with geographic atrophy in dry AMD or Stargardt disease remai...
journal_title：Investigative ophthalmology & visual science
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更新日期：2016-04-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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更新日期：2009-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.02-0661
更新日期：2003-07-01 00:00:00
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