Genetic interaction between Fmr1 and Grm5: A role for mGluR5 in the pathogenesis of Fragile X Syndrome
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منابع مشابه
Correction of Fragile X Syndrome in Mice
Fragile X syndrome (FXS) is the most common form of heritable mental retardation and the leading identified cause of autism. FXS is caused by transcriptional silencing of the FMR1 gene that encodes the fragile X mental retardation protein (FMRP), but the pathogenesis of the disease is unknown. According to one proposal, many psychiatric and neurological symptoms of FXS result from unchecked act...
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Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
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Abnormal metabotropic glutamate receptor 5 (mGluR5) function, as a result of disrupted scaffolding with its binding partner Homer, contributes to the pathophysiology of fragile X syndrome, a common inherited form of intellectual disability and autism caused by mutations in Fmr1. How loss of Fmr1 disrupts mGluR5-Homer scaffolds is unknown, and little is known about the dynamic regulation of mGlu...
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Variability in the subfertile patient population excludes the possibility of a single approach to controlled ovarian stimulation (COS) covering all the requirements of a patient. Modern medical science has made great advances in the understanding and the development of new drugs, treatment options and quantitative methods that can identify single patient characteristics. Factors that reduce fol...
متن کاملEvaluation of the Effect of Aqueous Extract of Olibanum on the Expression of FMR1 and MAP1B Genes in the Rat Hippocampus
Introduction: The therapeutic properties of Olibanum have been considered in traditional medicine since ages past. Recent studies indicated the effect of Olibanum on memory enhancement and prevention/treatment of Alzheimer's disease. Fragile X mental retardation protein is the product of the FMR1 gene that mediates memory formation through the development of communications between nerve cells. ...
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تاریخ انتشار 2007