Abstract:
:The identification of genes that modify pathological ocular phenotypes in mouse models may improve our understanding of disease mechanisms and lead to new treatment strategies. Here, we identify modifier loci affecting photoreceptor cell loss in homozygous Mfrp(rd6) mice, which exhibit a slowly progressive photoreceptor degeneration. A cohort of 63 F2 homozygous Mfrp(rd6) mice from a (B6.C3Ga-Mfrp(rd6)/J × CAST/EiJ) F1 intercross exhibited a variable number of cell bodies in the retinal outer nuclear layer at 20 weeks of age. Mice were genotyped with a panel of single nucleotide polymorphism markers, and genotypes were correlated with phenotype by quantitative trait locus (QTL) analysis to map modifier loci. A genome-wide scan revealed a statistically significant, protective candidate locus on CAST/EiJ Chromosome 1 and suggestive modifier loci on Chromosomes 6 and 11. Multiple regression analysis of a three-QTL model indicated that the modifier loci on Chromosomes 1 and 6 together account for 26% of the observed phenotypic variation, while the modifier locus on Chromosome 11 explains only an additional 4%. Our findings indicate that the severity of the Mfrp(rd6) retinal degenerative phenotype in mice depends on the strain genetic background and that a significant modifier locus on CAST/EiJ Chromosome 1 protects against Mfrp(rd6)-associated photoreceptor loss.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Won J,Charette JR,Philip VM,Stearns TM,Zhang W,Naggert JK,Krebs MP,Nishina PMdoi
10.1016/j.exer.2013.10.020subject
Has Abstractpub_date
2014-01-01 00:00:00pages
30-5eissn
0014-4835issn
1096-0007pii
S0014-4835(13)00309-6journal_volume
118pub_type
杂志文章abstract::The suggested common regulator of the eye lens crystallin genes is c-Maf. Maf responsive elements have been detected in a number of crystallin promoters including that of the rat betaB2-crystallin gene. The betaB2-crystallin gene is active in the post-natal lens and its mRNA reaches its maximal level in the rat lens 6...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.2001.1077
更新日期:2001-11-01 00:00:00
abstract::Although a range of changes in anterior segment structures have been documented to occur during accommodation, the quantification of changes in the structure of the anterior sclera during the accommodation process in human subjects has yet to be examined. This study therefore aimed to investigate the presence of short...
journal_title:Experimental eye research
pub_type: 杂志文章
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abstract::The immunolocalization of the low density lipoprotein receptor-related protein 1 (LRP1) and its ligand alpha 2-Macroglobulin (alpha(2)M) was examined in tissues from human donor eyes of normal, diabetic and sickle cell disease subjects. Streptavidin alkaline phosphatase immunohistochemistry was performed with a mouse ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2010.05.017
更新日期:2010-08-01 00:00:00
abstract::When aqueous humour outflow resistance is measured by two-level constant pressure perfusion in non-human primate eyes, a progressive decrease in outflow resistance, known as the 'washout effect' occurs with time. The effect of age on total outflow resistance washout (the reciprocal of outflow facility (OF)) was determ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2005.04.010
更新日期:2005-12-01 00:00:00
abstract::Purified retinal pigment epithelial cells of bovine eyes have been fractionated by a series of buffer and detergent extractions. The electropherogram of the buffer-insoluble, Triton X-100-soluble fraction (RPE-TS) exhibits a major polypeptide band of M(r) 65 kDa and a variety of minor components. Electrophoretically p...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(92)90008-g
更新日期:1992-12-01 00:00:00
abstract::A substantial change in the glycoconjugates of the rat interphotoreceptor matrix (IPM) has recently been shown to occur between post-natal day (P) 14 and P16 in rat retinas using lectin histochemistry. This suggests that the sialic acid content on the terminus of N-glycoside linked carbohydrate chains of the IPM incre...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1993.1013
更新日期:1993-01-01 00:00:00
abstract::By using immunohistochemical techniques, we demonstrated that HLA class I (A, B and C) and HLA class II (DR), the major histocompatibility antigens in man, are expressed constitutively by cells of the trabecular meshwork/Schlemm's canal system and corneal endothelium, as well as by the conjunctival epithelium, Langerh...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(90)90023-n
更新日期:1990-09-01 00:00:00
abstract::SPACRCAN is a novel proteoglycan present in the interphotoreceptor matrix (IPM) of the rat and human retina that resists aqueous extraction through its binding to hyaluronan. The purpose of this study was: to clone mouse Spacrcan; to characterize the promoter elements; to define the deduced amino acid sequence; to est...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/s0014-4835(02)00273-7
更新日期:2003-01-01 00:00:00
abstract::The purpose of this study was to investigate the expression of the EGF family of growth factors and EGF receptor subtypes (ErbB1-4) present in lacrimal gland and determine the effects of these growth factors on different functions of rat lacrimal gland. RT-PCR was used to detect mRNA expression in the lacrimal gland o...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2004.10.006
更新日期:2005-03-01 00:00:00
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journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2020.108331
更新日期:2021-01-01 00:00:00
abstract::Our study aimed to investigate metabolites alterations in the blood plasma of central serous chorioretinopathy (CSC) patients and to identify the key biomarkers to increase the understanding of the mechanism of CSC at the molecular level. Quantitative and targeted metabolomics using liquid chromatography tandem-mass s...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2020.108401
更新日期:2020-12-14 00:00:00
abstract::Preeclampsia (PE) is a hypertensive complication of pregnancy. Its cause is still unknown and it could be a risk factor for future ophthalmic problems. Retinal vascular bed alterations have been described as a consequence of PE, suggesting a retinopathy. Factors related to angiogenesis and vascular permeability, such ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2020.107981
更新日期:2020-04-01 00:00:00
abstract::Metabolic disturbances in diabetes mellitus include changes in the type and concentration of lipids in the blood plasma which may contribute to the development of diabetic retinopathy. This disease is characterized by changes in retinal blood flow secondary to changes in the tone of retinal arterioles which is regulat...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2013.06.013
更新日期:2013-10-01 00:00:00
abstract::The purpose of this study was to investigate the influence of hyperoxia and hypercapnia on fundus pulsations in the macular and optic disc region and determine a potential autoregulative capacity of the choroid under these conditions. In a randomized cross-over study 100% O2 and a mixture of 5% CO2 with air was inhale...
journal_title:Experimental eye research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0014-4835(05)80019-3
更新日期:1995-12-01 00:00:00
abstract::Retinal stimulation with high spatial resolution requires close proximity of electrodes to target cells. This study examines the effects of material coatings and 3-dimensional geometries of subretinal prostheses on their integration with the retina. A trans-scleral implantation technique was developed to place microfa...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2008.09.018
更新日期:2009-01-01 00:00:00
abstract::In the ophthalmological clinic, intravitreally applied antibodies or Fc-containing fusion proteins are frequently used, but the biology and pharmacokinetics of these therapeutics in the retina are not well understood. We have previously shown intracellular uptake of Fc-containing molecules in RPE cells. In this study,...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2015.12.013
更新日期:2016-04-01 00:00:00
abstract::Structure and function of the retina mainly rely on its fatty acid (FA) composition. Evidence from epidemiological studies and from animal experiments indicates that FA composition of the retina is influenced by the diet. Mice under chronic high-fat diet (HFD) develop metabolic syndrome, a risk factor for diabetes tha...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2020.108059
更新日期:2020-07-01 00:00:00
abstract::Monkey eyes are useful for ophthalmologic research into eye diseases because their histological and functional properties are very similar to those of humans. The monkey laser-induced high intraocular pressure (IOP) model is a common model for ophthalmologic research, especially into glaucoma. Although several studies...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2008.02.004
更新日期:2008-05-01 00:00:00
abstract::The damaging effects incurred during a light-insult on the albino rat retina are studied separately from the resultant loss of visual cells which occurs. Groups of rats, 5-20 weeks of age, are exposed to 48 hr of 80 lux illumination, maintained in the dark for various lengths of time, and then killed. Beginning at lig...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/s0014-4835(85)80017-8
更新日期:1985-09-01 00:00:00
abstract::Ultraviolet A (UVA) light-based photoactivation of riboflavin (Rf) to induce corneal crosslinking (CXL) and mechanical stiffening is now a well-known treatment for corneal ectasia and Keratoconus that is being used in a topographically guided photorefractive intrastromal CXL (PiXL) procedure to treat low degrees of re...
journal_title:Experimental eye research
pub_type: 杂志文章,评审
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更新日期:2020-10-01 00:00:00
abstract::This study of lens protein composition found that some cytoskeletal proteins were degraded during the earliest stages of cataract formation. Cataract was induced in 13-14 day old rats by a single subcutaneous injection of sodium selenite (19 mumol kg-1). By 24 hr after the injection of selenite, the ratio of insoluble...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1996.0220
更新日期:1997-03-01 00:00:00
abstract::Photoreceptor degeneration in human photoreceptor dystrophies and in the relevant animal models has been thought to be executed by one common mechanism -- caspase-mediated apoptosis. However, recent experiments have challenged this concept. In previous experiments, analyzing gene expression in the degenerating rd/rd m...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2006.01.014
更新日期:2006-08-01 00:00:00
abstract::Protein myristoylation occurs when the 14 carbon fatty acid, myristic acid, is covalently attached by amide linkage to a protein's N -terminal glycine by an N -terminal myristoyltransferase (NMT). A variation of this called heterogeneous acylation occurs in vivo only in retina when specific proteins are modified by my...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.2002.1189
更新日期:2002-07-01 00:00:00
abstract::Extracts of bovine corneal stroma have been shown to activate keratocytes in culture to proliferate. We fractionated stromal extract on a column of Sephacryl S-300 and tested the fractions for mitogenic activity using cell culture and for the presence of IGF-II and its binding protein IGFBP-2 by Western blot. We found...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2007.12.004
更新日期:2008-03-01 00:00:00
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journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(84)90008-3
更新日期:1984-08-01 00:00:00
abstract::It has been speculated that the unitary eyes of vertebrates and molluscs, and the compound eyes of insects and crustaceans, evolved separately. On the other hand, the common use of rhodopsin as a photoreceptor molecule, and the conservation of Pax6 as a master control gene for eye development, suggest instead that the...
journal_title:Experimental eye research
pub_type: 杂志文章,评审
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更新日期:2019-06-01 00:00:00
abstract::The Raman microspectroscopic method was used to determine the local water and protein content in human lenses. In 18 lenses of varying age position-defined water/protein content measurements were carried out along the visual and the equatorial axis. A main characteristic of the human lens is its constant and relativel...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(91)90079-t
更新日期:1991-08-01 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::Retinitis Pigmentosa (RP) is an inherited disorder that may lead to blindness. In the rhodopsin S334ter-line-3 rat model of RP, the death of rods induces spatial rearrangement of cones into regular ring mosaics. Using this model, we discovered that the ring mosaics are restored to a homogeneous distribution upon appli...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2015.08.005
更新日期:2015-11-01 00:00:00
abstract::Human limbal epithelial cells (LECs) intended for treatment of limbal stem cell deficiency are commonly cultivated on a 3T3 feeder layer with complex culture medium supplemented with fetal bovine serum (FBS). However, FBS is a xenogeneic component containing poorly characterised constituents and exhibits quantitative ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2018.06.019
更新日期:2018-11-01 00:00:00