Fragile X Syndrome
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Peer Reviewed Scientific Research Reports.
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1. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.
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The Fmr1 knockout (KO) mouse is characterized by an increased audiogenic seizure (AGS) susceptibility and is considered a good animal model for epilepsy and seizures in the human fragile-X (FRAX) syndrome. Here, we tested the hypothesis that the reintroduction of the FMR1 gene is able to revert the AGS susceptibility characterizing Fmr1 KO mice. To this aim, two groups of Fmr1 KO transgenic mice, which have additional copies of the human FMR1 gene (YAC) or FMR1 cDNA (G6) were used. AGS susceptibility of these mice was examined and compared to that of Fmr1 KO, wild type, and wild-type animals ... Read More »
» Published in Exp Neurol. 2007 Jan;203(1):233-40. Epub 2006 Sep 27.
2. Intravalvular implantation technique for a modified Bentall's procedure in aortitis syndrome.
Match Strength: 7.711
Surgical treatments of aortic root involvement in aortitis syndrome are frequently complicated by valve detachment and pseudoaneurysmal formation during active inflammation. A 40-year-old woman with aortitis syndrome complicating the ascending aortic aneurysm, severe aortic regurgitation (AR), and left coronary ostial stenosis was successfully treated by aortic root replacement and concomitant coronary artery bypass grafting (CABG) during acute inflammation. We devised an intravalvular implantation between the fragile aortic annulus and Teflon felt to a modified Bentall's procedure, which ... Read More »
» Published in Ann Thorac Cardiovasc Surg. 2006 Aug;12(4):290-2.
3. Epigenetics of autism spectrum disorders.
Match Strength: 6.435
The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11-13. Thus, parent of origin effects on sharing ... Read More »
» Published in Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50.
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