A Canine CNGB3 Channelopathy Suggests that Changes in Calcium Homeostasis Result in Progressive Loss of Cone Function
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چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولProgressive cone dystrophy associated with mutation in CNGB3.
PURPOSE To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy. METHODS Four affected individuals underwent ophthalmic examination, electrophysiological assessment, color fundus photography, and psychophysical testing. Blood samples ...
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35 epileptic patients, aged 10 to 58 years (mean 23), who were taking anticonvulsant drugs were studied. The patients exhibited a 34% reduction in serum calcium levels, a 41 % increase in serum alkaline phosphatase activity and a slight but insignificant decrease in serum phosphate, compared to untreated controls. These changes appear to be related to the anticonvulsant drug taken, in the ...
متن کاملLocal cone and rod system function in progressive cone dystrophy.
PURPOSE To compare the patterns of local cone and rod system impairment in patients with progressive cone dystrophy (CD) using psychophysical and electrophysiological techniques. METHODS Local cone system function was assessed by measuring cone system thresholds (visual fields) and cone-mediated multifocal electroretinograms (mfERGs). Rod system function was assessed by measuring rod system t...
متن کاملDisease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.
PURPOSE To characterize the functional consequences of disease-associated mutations in the CNGB3 (B3) subunit of human cone photoreceptor cyclic nucleotide-gated channels in order to gain insight into disease mechanisms. METHODS Three separate disease-associated mutations were generated in CNGB3: F525N, R403Q, and T383fsX. These mutant subunits were then heterologously expressed in Xenopus oo...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2013
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2012.11.1570