منابع مشابه
Bringing Rad52 foci into focus
The Rad52 protein has pivotal functions in double strand break repair and homologous recombination. The activity of Rad52 is often monitored by the subnuclear foci that it forms spontaneously in S phase or after DNA damage (Lisby et al., 2001). In mammals, the functions of yeast Rad52 may be divided between human RAD52 and the tumor suppressor BRCA2 (Feng et al., 2011). The full host of molecul...
متن کاملThe electrical properties of muscle fiber membranes in dystrophia myotonica and myotonia congenita.
The disorder of skeletal muscle known as myotonia has repeatedly attracted the interest of clinical neurophysiologists. The condition is characterized by a prolonged contraction ofmuscle fibres following voluntary exertion; alternatively it may be induced by direct or indirect electrical stimulation of muscle or by mechanical percussion of the muscle belly. The condition may be an accompanying ...
متن کاملCellular toxicity of expanded RNA repeats: focus on RNA foci
Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of distinct morphology have also been found in fragile X-associated tremor ataxia syndrome, Huntington's disease-like 2, spinocerebellar ataxias type 8, type 10 and type 31. These neurological diseases are associated with the presence...
متن کاملMolecular mechanisms in DM1 — a focus on foci
Myotonic dystrophy type 1 is caused by abnormal expansion of a CTG-trinucleotide repeat in the gene encoding Dystrophia Myotonica Protein Kinase (DMPK), which in turn leads to global deregulation of gene expression in affected individuals. The transcribed mRNA contains a massive CUG-expansion in the 3' untranslated region (3'UTR) facilitating nucleation of several regulatory RNA-binding protein...
متن کاملWhy focus on preterm birth and stillbirth?
While under-5 mortality rates are improving in many countries worldwide, neonatal mortality rates (deaths in the fi rst 28 days of life) have shown much less progress [1]. Neonatal deaths now account for more than 42% of under fi ve deaths (Figure 1), up from 37% in the year 2000 when the Millennium Development Goals (MDGs) were set [2, 3]. MDG 4 targets a two-thirds reduction of under-fi ve de...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2009
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2008.227