نتایج جستجو برای: best vitelliform dystrophy

تعداد نتایج: 402760  

2003
S. T. Lamb W. D. Graham C. B. Harrison A. K. Alva

A research project was conducted to evaluate the impact of alternative citrus nitrogen and water management practices on groundwater nitrate concentrations beneath the vulnerable sandy soils in the ridge citrus region of Central Florida. Fifteen months of baseline data indicated that groundwater nitrate-nitrogen concentrations were above the Environmental Protection Agency’s Maximum Contaminant...

Journal: :The British journal of ophthalmology 1987
N M Newman R A Stevens J R Heckenlively

We present examples of nerve fibre layer changes in diseases thought to affect primarily the outer retinal layers. These disease processes include cone-rod dystrophies, rod-cone dystrophies, juvenile macular degeneration (Stargardt's disease) and fundus flavimaculatis, vitelliform macular dystrophy, and Leber's congenital amaurosis. All were associated with alterations in the retinal nerve fibr...

2013
Nuno Moreira Gonçalves Ângela M. Carneiro Elisete Brandão Fernando M. Falcão-Reis

Purpose. To present a case study of a monocular acquired vitelliform lesion, studied with multimodal fundus imaging (spectral-domain-optical coherence tomography, fundus autofluorescence, and fluorescein angiography) with a followup of three years. Case Report. An asymptomatic macular lesion was detected on a 64-year-old man. Fundus exam revealed a macular lesion with an apparent horizontal lev...

Journal: :The Journal of biological chemistry 2009
Zhiqiang Qu Wei Cheng Yuanyuan Cui Jie Zheng

Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy. Although mutations in its transmembrane domains were found to alter biophysical properties of the channel, the mechanism for disease-causing mutations in its N and C termini remains elusive. We hypothesized that these mutations lead to channel dysfunction through disruption of an N-C-terminal...

Journal: :The Journal of physiology 2005
Rodolphe Fischmeister H Criss Hartzell

Bestrophins are a newly identified family of Cl(-) channels. Mutations in the founding member of the family, human bestrophin-1 (hBest1), are responsible for a form of early onset macular degeneration called Best vitelliform macular dystrophy. The link between dysfunction of hBest1 and macular degeneration remains unknown. Because retinal pigmented epithelium (RPE) cells may be subjected to var...

2015
Kirilka Mladenova Svetla Petrova Veselina Moskova-Doumanova Tanya Topouzova-Hristova Stoyanka Stoitsova Irena Tabashka Christina Chakarova Zdravko Lalchev Jordan Doumanov

Bestrophin-1 (Best1) is a transmembrane protein, found in the basolateral plasma membrane of retinal pigmented epithelial cells. The exact structure and functions of Best1 protein are still unclear. The protein is thought to be a regulator of ion channels, or an ion channel itself: it was shown to be permeable for chloride, thiocyanate, bicarbonate, glutamate and γ-aminobutyric acid (GABA). Mut...

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