Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
نویسندگان
چکیده
منابع مشابه
Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded (CAG)n repeat on the huntingtin gene. It is characterised by motor, psychiatric and cognitive disturbances. Diagnosis can be confirmed by direct genetic testing, which is highly sensitive and specific and is now considered definitive. This study focused on 21 patients presenting with a clinical p...
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Expanded CAG repeat tracts are the cause of at least a dozen neurodegenerative disorders. In humans, long CAG repeats tend to expand during transmissions from parent to offspring, leading to an earlier age of disease onset and more severe symptoms in subsequent generations. Here, we show that the maintenance DNA methyltransferase Dnmt1, which preserves the patterns of CpG methylation, plays a k...
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In Huntington's disease (HD) patients and in model organisms, messenger RNA transcriptome has been extensively studied; in contrast, comparatively little is known about expression and potential role of microRNAs. Using RNA-sequencing, we have quantified microRNA expression in four brain regions and liver, at three different ages, from an allelic series of HD model mice with increasing CAG lengt...
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having conducted the experiment and analysed the data, the researcher computed the groups mean scores and variances for the test relating to the research question. as the final atep, a t-test was conodonted for the hypothesis. as noted earlier, the significance level was determined at .05 and .01 respectively. the observed t-value was higher than the critical t-value at. 5 and .01 levels. conse...
15 صفحه اولAncient origin of the CAG expansion causing Huntington disease in a Spanish population.
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational ev...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e318294b304