دانلود مقاله ISI انگلیسی شماره 75606
عنوان فارسی مقاله

بینش های اخیر نسبت به روابط ژنوتیپ فنوتیپ در بیماران با سندرم رت با استفاده از مقیاس ریز دانه

کد مقاله سال انتشار مقاله انگلیسی ترجمه فارسی تعداد کلمات
75606 2014 11 صفحه PDF سفارش دهید محاسبه نشده
خرید مقاله
پس از پرداخت، فوراً می توانید مقاله را دانلود فرمایید.
عنوان انگلیسی
Recent insights into genotype–phenotype relationships in patients with Rett syndrome using a fine grain scale
منبع

Publisher : Elsevier - Science Direct (الزویر - ساینس دایرکت)

Journal : Research in Developmental Disabilities, Volume 35, Issue 11, November 2014, Pages 2976–2986

کلمات کلیدی
سندرم رت؛ MECP2؛ فرایندهای شناختی؛ هیجانی؛ رفتاری حرکتی؛ خودمختاری
پیش نمایش مقاله
پیش نمایش مقاله بینش های اخیر نسبت به روابط ژنوتیپ فنوتیپ در بیماران با سندرم رت با استفاده از مقیاس ریز دانه

چکیده انگلیسی

Mutations in MECP2 gene cause Rett syndrome (RTT), a neurodevelopmental disorder affecting around 1 in 10,000 female births. The clinical picture of RTT appears quite heterogeneous for each single feature. Mutations in MECP2 gene have been associated with the onset of RTT. The most known gene function consists of transcriptional repression of specific target genes, mainly by the binding of its methyl binding domain (MBD) to methylated CpG nucleotides and recruiting co-repressors and histone deacetylase binding to DNA by its transcription repressor domain (TRD). This study aimed at evaluating a cohort of 114 Rett syndrome (RTT) patients with a detailed scale measuring the different kinds of impairments produced by the syndrome. The sample included relatively large subsets of the most frequent mutations, so that genotype–phenotype correlations could be tested. Results revealed that frequent missense mutations showed a specific profile in different areas of impairment. The R306C mutation, considered as producing mild impairment, was associated to a moderate phenotype in which behavioural characteristics were mainly affected. A notable difference emerged by comparing mutations truncating the protein before and after the nuclear localization signal; such a difference concerned prevalently the motor-functional and autonomy skills of the patients, affecting the management of everyday activities.

خرید مقاله
پس از پرداخت، فوراً می توانید مقاله را دانلود فرمایید.