نتایج جستجو برای: oguchi disease
تعداد نتایج: 1490119 فیلتر نتایج به سال:
Purpose To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort of families without mutations in known adRP genes and consequently to characterize a novel dominant-acting missense mutation in SAG. Methods Patients underwent ophthalmologic testing and were screened for mutations using targeted-capture and whole-exome next-generation sequencing. Confirmation and add...
We report that visual arrestin can regulate retinal release and late photoproduct formation in rhodopsin. Our experiments, which employ a fluorescently labeled arrestin and rhodopsin solubilized in detergent/phospholipid micelles, indicate that arrestin can trap a population of retinal in the binding pocket with an absorbance characteristic of Meta II with the retinal Schiff-base intact. Furthe...
REFERENCES 1 Teramoto S, Matsuse T, Fukuchi Y, et al. Simple two-step swallowing provocation test for elderly patients with aspiration pneumonia. Lancet 1999; 353: 1243. 2 Oguchi K, Saitoh E, Baba M, et al. The repetitive saliva swallowing test (RSST) as a screening test of functional dysphagia. (2) Validity of RSST. Jpn J Rehabil Med 2000; 37: 383–388. 3 Kobayashi S, Kubo H, Yanai M. Impairmen...
Light deprivation has long been considered a potential treatment for patients with inherited retinal degenerative diseases, but no therapeutic benefit has been demonstrated to date. In the few clinical studies that have addressed this issue, the underlying mutations were unknown. Our rapidly expanding knowledge of the genes and mechanisms involved in retinal degeneration have made it possible t...
A. J. Zambano,1,* H. Oguchi,1 I. Takeuchi,1 Y. Choi,2,3 J. S. Jiang,2 J. P. Liu,3 S. E. Lofland,4 D. Josell,5 and L. A. Bendersky5 1Department of Materials Science and Engineering and Center for Superconductivity Research, University of Maryland, College Park, Maryland 20742, USA 2Materials Science Division, Argonne National Laboratory, Argonne, Illinois 60439, USA 3Department of Physics, Unive...
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