557. Targeted CYBB Minigene Insertion into the CYBB Locus for Correction of X-CGD iPSCs Requires Intronic Elements for Expression
نویسندگان
چکیده
منابع مشابه
Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease
Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there h...
متن کاملInterferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.
X-linked chronic granulomatous disease (CGD) derives from defects in the CYBB gene, which encodes the gp91-phox component of NADPH oxidase. We studied the molecular basis of the disease in a kindred with variant CGD, due to a single base substitution at the sixth position of CYBB first intron. The patients' phagocytes have been shown previously to greatly increase superoxide release in response...
متن کاملA Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox locate...
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this study investigates the cohesive devices used in the textbook of english for the students of psychology. the research questions and hypotheses in the present study are based on what frequency and distribution of grammatical and lexical cohesive devices are. then, to answer the questions all grammatical and lexical cohesive devices in reading comprehension passages from 6 units of 21units th...
facilitating lexical access for the fluent production of speech
the hypothesis is that recent and frequent exposure to lexical items leads to a more fluent production of speech in terms of rate of speech. to test the hypothesis , a one- way anova experimental design was carried out. 24 senior student of efl participated in a one-way interview test. data analyses revealed that those who were exposed frequently to the lexical items over a week prior to inte...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2016
ISSN: 1525-0016
DOI: 10.1016/s1525-0016(16)33365-2