نتایج جستجو برای: oguchi disease

تعداد نتایج: 1490119  

2017
Lori S. Sullivan Sara J. Bowne Daniel C. Koboldt Elizabeth L. Cadena John R. Heckenlively Kari E. Branham Dianna H. Wheaton Kaylie D. Jones Richard S. Ruiz Mark E. Pennesi Paul Yang David Davis-Boozer Hope Northrup Vsevold V. Gurevich Rui Chen Mingchu Xu Yumei Li David G. Birch Stephen P. Daiger

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...

Journal: :Vision Research 2006
Martha E. Sommer David L. Farrens

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...

Journal: :The European respiratory journal 2009
T Harada K Nabeshima T Matsumoto T Akagi M Fujita K Watanabe

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...

Journal: :The British journal of ophthalmology 2006
D M Paskowitz M M LaVail J L Duncan

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...

Journal: :Arquivos Brasileiros de Oftalmologia 2002

2007
A. J. Zambano H. Oguchi I. Takeuchi Y. Choi J. S. Jiang J. P. Liu S. E. Lofland D. Josell L. A. Bendersky

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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