نتایج جستجو برای: ژن mecp2
تعداد نتایج: 17535 فیلتر نتایج به سال:
پیشینه: سندرم رت اختلالی رشدی– عصبی پیشرونده ای است که تقریبا به طور انحصاری در دختران بروز پیدا می کند. این سندرم، با شیوع 1 مورد در هر 15000-10000دختر، یکی از شایع ترین دلایل ژنتیکی عقب ماندگی ذهنی در جنس مونث می باشد. حدود 80% بیماران مبتلا به سندرم رت کلاسیک و 40-20% انواع واریانت این سندرم در ژن وابسته به x ، mecp2 (methyl cpg binding protein 2)جهش هایی را دارند. تا به حال، بیش از 200 ج...
اندومتریوز به بیماری خوش خیمی اطلاق می شود که مشخصه آن حضور سلول های اندومتر رحم در خارج از رحم و حفره شکمی است. این ضایعات در لگن بیشتر روی تخمدان ها و سطح صفاق دیده می شود. اندومتریوز علاوه بر اینکه یک بیماری هورمونی وابسته به استروژن است به عنوان یک بیماری خودایمنی و ژنتیکی محسوب می شود که آلودگی های محیطی در ایجاد آن نقش به سزایی دارند. در سال های اخیر نیز از اندومتریوز به عنوان یک بیماری ا...
Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT OMIM 312750). Alternative inclusion of MECP2/Mecp2 exon 1 with exons 3 and 4 encodes MeCP2-e1 or MeCP2-e2 protein isoforms with unique amino termini. While most MECP2 mutations are located in exons 3 and 4 thus affecting both isoforms, MECP2 exon 1 mutations but not exon 2 mutations have been identified in RTT patients,...
The methyl-CpG-binding protein 2 (MeCP2) gene, MECP2, is an X-linked gene encoding the MeCP2 protein, and mutations of MECP2 cause Rett syndrome (RTT). However, the molecular mechanism of MECP2-mutation-caused RTT is less known. Here we find that MeCP2 could be SUMO-modified by the E3 ligase PIAS1 at Lys-412. MeCP2 phosphorylation (at Ser-421 and Thr-308) facilitates MeCP2 SUMOylation, and MeCP...
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). The onset of symptoms in RTT is delayed until 6-18 months and 4-6 months in the Mecp2(-/+) mouse model, corresponding to a dynamic and gradual accumulation of MeCP2 expression in individual neurons of the postnatal brain. Because of X chromosome inactivatio...
Mutations in MECP2 (methyl-CpG-binding protein 2) are linked to the severe postnatal neurodevelopmental disorder RTT (Rett syndrome). MeCP2 was originally characterized as a transcriptional repressor that preferentially bound methylated DNA; however, recent results indicate MeCP2 is a multifunctional protein. MeCP2 binding is now associated with certain expressed genes and involved in nuclear o...
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). The onset of symptoms in RTT is delayed until 6–18 months and 4–6 months in the Mecp2 2/1 mouse model, corresponding to a dynamic and gradual accumulation of MeCP2 expression in individual neurons of the postnatal brain. Because of X chromosome inactivation...
BACKGROUND Aberrant MeCP2 expression in brain is associated with neurodevelopmental disorders including autism. In the brain of stressed mouse and autistic human patients, reduced MeCP2 expression is correlated with Mecp2/MECP2 promoter hypermethylation. Altered expression of MeCP2 isoforms (MeCP2E1 and MeCP2E2) is associated with neurological disorders, highlighting the importance of proper re...
Mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), cause the neurodevelopmental disorder Rett syndrome (RTT). Although MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex. MeCP2 is critical for postnatal neuronal maturation and a modulator of activity-dependent genes such as Bdnf (brain-derived neurotropic factor) and JUNB. The activit...
Rett syndrome (RTT) is a progressive neurological disorder primarily caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). The heterozygous female brain consists of mosaic of neurons containing both wild-type MeCP2 (MeCP2+) and mutant MeCP2 (MeCP2-). Three-dimensional morphological analysis was performed on individually genotyped layer V pyramidal neurons in the primary...
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