Statins for fragile X
نویسندگان
چکیده
منابع مشابه
Fragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
متن کاملFragile X/Cancer Cytogenetics
To begin with, Human Pharmacology is a moderately priced book that makes no pretense to be as encyclopedic as Goodman and Gilman. One of the main advantages of the book is its consistency of presentation. Each chapter is presented in five sections: (1) therapeutic overview; (2) mechanisms of action; (3) pharmacokinetics; (4) relation of mechanisms of action to clinical response; and (5) side ef...
متن کاملFragile X spectrum disorders.
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repe...
متن کاملThe fragile X syndrome.
We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...
متن کاملGuidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for po...
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ژورنال
عنوان ژورنال: Science-Business eXchange
سال: 2013
ISSN: 1945-3477
DOI: 10.1038/scibx.2013.129