Abstract：
PURPOSE:The goal of this study was to functionally evaluate three previously uncharacterized heat shock factor protein 4 (HSF4) mutations (c.595_599delGGGCC, c.1213C>T, c.1327+4A>G) encoding mutant HSF4 proteins (G199EfsX15, R405X, and M419GfsX29) with missing C-terminal ends. These HSF4 mutations were previously identified in families with congenital autosomal recessive cataracts. METHODS:FLAG-tagged recombinant wild type (WT) and mutant HSF4 proteins were analyzed using the protein stability assay, cellular immunofluorescence, Western blotting, electrophoretic mobility shift assay (EMSA), and reporter activation. RESULTS:HSF4 mutant proteins did not differ in the protein turnover rate when compared with WT HSF4. Immunofluorescence revealed that WT and mutant HSF4 proteins were properly trafficked to the nucleus. EMSA analysis revealed that the G199EfsX15 and M419GfsX29 proteins exhibited decreased heat shock element (HSE)-mediated DNA binding, whereas the R405X mutant exhibited increased HSE-mediated DNA binding when compared with WT HSF4. All three HSF4 mutant proteins exhibited abolished HSE-mediated luciferase reporter activation. Detailed evaluation of the C-terminal region identified three novel domains: two activation domains and one repression domain. CONCLUSIONS:The three HSF4 autosomal recessive mutations evaluated here result in a loss of HSF4 function due to a loss of regulatory domains present at the C-terminal end. These findings collectively indicate that the transcriptional activation of HSF4 is mediated by interactions between activator and repressor domains within the C-terminal end.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Merath K,Ronchetti A,Sidjanin DJdoi
10.1167/iovs.13-12283subject
Has Abstractpub_date
2013-10-11 00:00:00pages
6646-54issue
10eissn
0146-0404issn
1552-5783pii
iovs.13-12283journal_volume
54pub_type
杂志文章abstract：:Herpes simplex virus type 1 (HSV-1) inoculated directly into the anterior chamber of the mouse eye induced an acute inflammatory process in both the injected eye and its uninjected (contralateral) counterpart. In the former, a rapid intense inflammatory reaction developed in the anterior segment (cornea, anterior cham...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-09-01 00:00:00
abstract：:The relative importance of the anterior ciliary arteries to blood flow to the anterior segment and the quadrant distribution of blood to the iris, ciliary body, and ciliary processes were determined in canines with the use of 15 +/- 3 mum 103Ru microspheres with the reference blood flow method. Recti muscles were isol...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-11-01 00:00:00
abstract：Purpose:Effective intravitreal gene delivery to cells of the central retina (i.e., photoreceptors) would be of substantial benefit for treating patients with retinal diseases, such as achromatopsia, where retinal detachment from a subretinal may be harmful. Previous studies demonstrated that mutation of the recombinant...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-22281
更新日期：2017-12-01 00:00:00
abstract：PURPOSE:To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS:CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood samp...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-0013
更新日期：2007-09-01 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:Recently, it has been found that form deprivation myopia can be induced in fish (tilapia). This study examined the sensitivity of the tilapia eye to positive and negative lenses. It further investigated the sensitivity of the fish eye to form deprivation by examining the effect of fish weight. METHODS:Twenty-f...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-1273
更新日期：2007-10-01 00:00:00
abstract：PURPOSE:The effects of adrenergic agonists and antagonists on Na+, K+, Cl- cotransport in fetal human nonpigmented ciliary epithelial (NPE) cells were investigated. METHODS:86Rb+ as a marker for K+ was used to study ouabain-insensitive, bumetanide-sensitive 86Rb+ uptake in cultured NPE monolayers. Cyclic adenosine mon...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1996-05-01 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:To describe the prevalence of AMD in an elderly urban Chinese population in China. METHODS:A population-based, cross-sectional study was conducted using a cluster random sample of residents aged 50 years or older living in the Jiangning Road Subdistrict, Jing'an District, Shanghai, China. All participants unde...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-14899
更新日期：2014-09-04 00:00:00
abstract：PURPOSE:Fibrillins are the major constituent of tissue microfibrils, which form the ocular zonule. In Marfan syndrome (MFS), FBN1 mutations lead to ectopia lentis. The goal of this work was to investigate zonule composition and formation in fibrillin-deficient and wild-type mice. METHODS:Immunofluorescence staining of...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-13121
更新日期：2013-12-23 00:00:00
abstract：PURPOSE:This study evaluated the level of histamine in the interaction between the environment and the visual system during lifespan development, exploring potential sex differences. METHODS:Male and female Wistar rats, reared in standard laboratory or enriched-environment cages from birth to prepuberty or adulthood, ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.12-10809
更新日期：2012-11-01 00:00:00
abstract：PURPOSE:Activation of complement has been implicated as one of the major causes of age-related macular degeneration (AMD). Evidence is accumulating for a role of complement in other retinal diseases, such as diabetic retinopathy and proliferative vitreoretinopathy. Because of the paucity of animal models that directly ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-6002
更新日期：2011-05-18 00:00:00
abstract：PURPOSE:Reports of lymphatics in the posterior human uvea are contradictory. We systematically analyzed the choroid by combining various lymphatic markers, following recently established guidelines for the immunohistochemical detection of ocular lymphatics. METHODS:Human choroids were prepared for flat mount serial cr...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-17883
更新日期：2015-11-01 00:00:00
abstract：PURPOSE:To assess the range of macular pigment optical density (MPOD) in a healthy group of young adults of South Asian origin; to investigate whether any dietary factors or personal characteristics were related to intersubject variations in MPOD; and to compare the mean MPOD of the South Asian group with the mean MPOD...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.12-10957
更新日期：2013-04-17 00:00:00
abstract：PURPOSE:To identify the underlying mechanisms by which lipid mediator lysophosphatidic acid (LPA) acts as a growth factor in stimulating extracellular signal-regulated kinase (ERK) and phosphatidylinositol 3'-kinase (PI3K) during corneal epithelial wound healing. METHODS:Epithelial debridement wounds in cultured porci...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0203
更新日期：2007-02-01 00:00:00
abstract：PURPOSE:To determine the effects of silicone hydrogel lens wear and lens-solution interactions on ocular surface sensitivity. METHODS:Forty-eight adapted lens wearers completed the study, which comprised two phases. Phase 1 included habitual lens wear, no lens wear (7 ± 3 days), and balafilcon A lenses (PV; PureVision...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章,随机对照试验
doi：10.1167/iovs.09-4807
更新日期：2010-12-01 00:00:00
abstract：PURPOSE:There is a correlation between cell volume changes and changes in the rate of aqueous humor outflow; agents that decrease trabecular meshwork (TM) cell volume increase the rate of aqueous humor outflow. This study investigated the effects of the nitric oxide (NO)-independent activators of soluble guanylate cycl...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-3127
更新日期：2009-07-01 00:00:00
abstract：:The autofluorescence of reduced pyridine nucleotides (NADH and NADPH) and oxidized flavoproteins within the rabbit cornea were noninvasively measured as a function of depth. This was accomplished by combining a corneal specular microscope with a time-shared spectrofluorometer. When either 8 mM sodium pentobarbital or ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：PURPOSE:To study the diameter response of retinal arterioles as a function of the arteriolar diameter. METHODS:Ten healthy young volunteers aged 22 to 33 years were subjected to diameter measurement of four successive segments of a retinal arteriole with a retinal vessel analyzer (RVA). At each of the segments, the di...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0360
更新日期：2007-01-01 00:00:00
abstract：PURPOSE:To determine the effect of continuous light exposure on ocular growth and emmetropization in infant monkeys. METHODS:Nine infant rhesus monkeys were reared with the normal vivarium lights on continuously. The 24-hour light cycle was initiated between 1 and 4 weeks of age and maintained for 6 months. The ocular...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2001-05-01 00:00:00
abstract：PURPOSE:Many types of chronic blepharitis have been believed to be primarily microbial in origin; however, it was proposed that differences and changes in lipid composition of meibomian secretion may be the initiating factor in some of these. It was recently reported that there are two subgroups of normals, those whose...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
abstract：PURPOSE:Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by the failure of peripheral retinal vascularization. The genes FZD4, LRP5, and TSPAN12 are known to be associated with the autosomal inheritance form of FEVR. In this study, we performed mutation screening for FZD4, LRP5, a...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-15680
更新日期：2015-08-01 00:00:00
abstract：PURPOSE:To investigate the pharmacologic effect of tetramethylpyrazine (TMP) on human Tenon's fibroblasts (HTFs), the cells implicated in scarring after filtration surgery. METHODS:Transforming growth factor-β2 (TGF-β2) was used to stimulate a fibrotic phenotype in primary HTFs, and the influence of TMP on the fibroti...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-19529
更新日期：2016-09-01 00:00:00
abstract：PURPOSE:To assess dynamic interactions of eye and head movements during return-sweep saccades (RSS) when reading with single-vision (SVL) versus progressive-addition (PAL) lenses in a simulated computer-based business environment. METHODS:Horizontal eye and head movements were recorded objectively and simultaneously a...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.02-0507
更新日期：2003-04-01 00:00:00
abstract：PURPOSE:Excessive and continuously produced free radicals in the outer retina are implicated in retinal aging and the pathogenesis of sight-threatening retinopathies, yet measuring outer retinal oxidative stress in vivo remains a challenge. Here, we test the hypothesis that continuously produced paramagnetic free radic...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-18420
更新日期：2015-12-01 00:00:00
abstract：PURPOSE:Oxidative stress seems to be an important factor in the development of age-related macular degeneration (AMD). The role of DNA repair mechanisms has also received attention recently in AMD pathogenesis. This case-control study was conducted to determine the frequency of polymorphisms in two DNA repair enzyme ge...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-4842
更新日期：2010-09-01 00:00:00
abstract：Purpose:To evaluate the incidence, visual prognosis, and mortality in retinopathy of prematurity (ROP) in Korea. Methods:We used the National Health Insurance and the Korean Disability Registry database, which covers the entire newborn population in 2006 to 2014 and includes information on all newborns diagnosed with ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.61.10.14
更新日期：2020-08-03 00:00:00
abstract：:Greene's melanomas, implanted in the anterior chamber of 31 eyes of 19 Dutch rabbits, were treated with hyperthermia induced by high intensity focused ultrasound (HIFU). The percentage necrosis 24 hr after treatment (N) as a function of steady-state intratumor temperature (T) could be described with N(T) = -181.5 + 4....
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:The susceptibility of Candida albicans to topical amphotericin B and natamycin was evaluated in a model of stromal keratitis in Dutch-belted rabbits and compared with minimal inhibitory concentrations in vitro. Treatment was delayed 24 hr to allow invasive disease to occur and was then continued for 5 days. Ten strain...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1987-05-01 00:00:00
abstract：:One eye of each of eight subjects was exposed to gases containing oxygen concentrations of 1.0%, 2.5%, 4.9%, 7.5%, 10.1%, and 21.4% (oxygen partial pressures ranging from 8 to 158 mmHg) for 8 hr. The precorneal oxygen concentration required to avoid corneal edema for the group as a whole was 10.1% (an oxygen tension o...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-04-01 00:00:00
