نتایج جستجو برای: fragile control

تعداد نتایج: 1341839  

Journal: :iranian journal of psychiatry and behavioral sciences 0
seyyed hossein fatemi department of psychiatry, division of neuroscience research, university of minnesota medical school timothy d folsom

autism and fragile x syndrome have multiple behavioral phenotypes in common, however there has been little research into the potential role of fragile x mental retardation protein (fmrp) in autism. we sought to measure protein levels of fmrp in the lateral cerebella of subjects with autism and matched controls. we found significantly reduced levels of fmrp (p<0.0063) in subjects with autism. th...

Journal: :Human molecular genetics 2013
Laura W Dillon Levi C T Pierce Maggie C Y Ng Yuh-Hwa Wang

The formation of alternative DNA secondary structures can result in DNA breakage leading to cancer and other diseases. Chromosomal fragile sites, which are regions of the genome that exhibit chromosomal breakage under conditions of mild replication stress, are predicted to form stable DNA secondary structures. DNA breakage at fragile sites is associated with regions that are deleted, amplified ...

Journal: :Cell 1991
A J Verkerk M Pieretti J S Sutcliffe Y H Fu D P Kuhl A Pizzuti O Reiner S Richards M F Victoria F P Zhang

Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomi...

2017
M. A. Ebrahim

Blade Pitch Controller (BPC) that can cope system uncertainties is one of the most interesting topics in wind energy engineering. Therefore, this paper presents a step towards the design of robust nonfragile BPC for wind energy conversion system. The proposed approach presents all boundaries of stability region that can guarantee robust stability (RS) over a wide range of operating conditions. ...

Journal: :Neuron 2015
Emanuela Pasciuto Tariq Ahmed Tina Wahle Fabrizio Gardoni Laura D’Andrea Laura Pacini Sébastien Jacquemont Flora Tassone Detlef Balschun Carlos G. Dotti Zsuzsanna Callaerts-Vegh Rudi D’Hooge Ulrike C. Müller Monica Di Luca Bart De Strooper Claudia Bagni

The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The β-amyloid precursor protein (APP) is involved in Alzheimer's disease, plays a role in synapse formation, and is upregulated in intellectual disabilities. Here, we show that during mouse synaptogenesis and in human FXS fibroblasts, a dual dysr...

Journal: :Journal of Differential Equations 2012

Journal: :Nature 2008

2011
Scott M. Paluszkiewicz Jose Luis Olmos-Serrano Joshua G. Corbin Molly M. Huntsman

24 Fragile X Syndrome (FXS) is a neurodevelopmental disorder characterized by severe 25 cognitive impairments, sensory hypersensitivity, and comorbidities with autism and epilepsy. 26 Fmr1 knockout (KO) mouse models of FXS exhibit alterations in excitatory and inhibitory 27 neurotransmission, but it is largely unknown how aberrant function of specific neuronal subtypes 28 contributes to these d...

Journal: :Nature Clinical Practice Gastroenterology & Hepatology 2007

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