An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain
نویسندگان
چکیده
منابع مشابه
an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles
چکیده ندارد.
15 صفحه اولMyoclonic encephalopathy in the CDKL5 gene mutation.
OBJECTIVE Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation. METHODS We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 yea...
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15 صفحه اولAn alternative, nonkinase product of the brain-specifically expressed Ca2+/calmodulin-dependent kinase II alpha isoform gene in skeletal muscle.
The gene for the alpha isoform of Ca2+/calmodulin-dependent kinase II (alpha CaMKII) codes for a multifunctional protein kinase that is found exclusively in the brain. Here we show that in skeletal muscle, an alternative nonkinase product, hereafter referred to as alpha KAP (alpha CaMKII association protein), is expressed from the same gene. alpha KAP consists of a C-terminal region that is ide...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2010
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2010.143