Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 41 for “"FXS"”.
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Dysregulated ERK signal pathway and immune profiles in Fragile X Syndrome
Fragile X Syndrome (FXS) is the leading cause of inherited mental retardation, and the most common identified genetic cause of autism. Lack of production of the Fragile X Mental Retardation Protein (FMRP) leads to changes in dendritic morphology and resultant cognitive and behavioral manifestations …
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Negative Affect Longitudinally Predicts Anxiety, Not Autism, In Young Children With Fragile X Syndrome
<p>Children with fragile X syndrome (FXS) face extremely high risk for anxiety disorders, yet few studies have longitudinally investigated FXS as a high risk sample for teasing apart the early manifestations of debilitating anxiety symptoms. Due to the high comorbidity and overlapping phenotypic …
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Return of a Fragile X Syndrome Genetic Result: Exploring the feedback of Individual genetic findings and their relation to traditional knowledge in a village in Cameroon
Introduction: Fragile X Syndrome (FXS) is the most common genetic cause of intellectual disability (ID) and Autism Spectrum Disorder (ASD). It is caused by the expansion of CGG (Cytosine, Guanine, Guanine) repeats at the 5' untranslated region (UTR) of the Fragile X Mental Retardation gene 1 …
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The Expressed Emotion of Mothers of Children with Fragile X Syndrome
… mothers with children with fragile X syndrome (FXS) face many challenges, including managing their child's behavior which is a defining characteristic of children with FXS (Epstein, Riley, & Sobesky, 2002). Parents and professionals have become increasingly aware through research and everyday …
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Analysis of the expression and effects of vascular endothelial growth factor family of molecules on Fragile X Syndrome abnormalities in a mouse model
Fragile X Syndrome (FXS) is the most common form of inherited mental retardation affecting 1:3600 males and 1:8000 females (Cornish et al., 2008). The primary cause is a silencing of the FMR1 gene, via increased CGG trinucleotide repeats, which encodes for the Fragile X Mental Retardation Protein …
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Examination of the effect of a diet high in vitamin D in a preclinical model of fragile X syndrome.
… 17% of the population. Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder that is the most common form of inherited intellectual disability and is a monogenic cause of autism spectrum disorder (ASD). Individuals with FXS lack the ability to synthesize fragile x messenger …
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Developmental Trajectories of Effortful Control In Young Boys With Fragile X Syndrome
… 2007). Children with Fragile X Syndrome (FXS) show difficulties in modulating arousal and controlling attention suggesting impairment in effortful control (Cornish, Sudhalter, & Turk, 2004); however, effortful control has not been explicitly investigated in this population. Therefore, the …
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Occupations as an Outcome Measure in a Clinical Trial: Fragile X Syndrome and Sertraline
<p>Fragile X Syndrome (FXS) is the most common form of inherited intellectual and developmental disability, and a known genetic cause of autism. Individuals with FXS present with deficits in cognition, social skills, behavior, language and sensory processing skills; all of which are commonly …
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Cellular and synaptic pathophysiology in a rat model of Fragile X syndrome
Fragile X syndrome (FXS) is the most commonly inherited form of intellectual disability as well as a leading genetic cause of autism spectrum disorder. It is typically the result of a trinucleotide repeat expansion in the Fmr1 gene which leads to loss of the encoded protein, fragile X mental …
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CONSEQUENCES OF CHROMATIN MOSAICISM AND PERSISTENCE IN NEURONAL PLASTICITY AND DISEASE
… to variability in fragile X syndrome (FXS), a neurodevelopmental disorder, cell-type identities, and neuronal plasticity. In FXS, using imaging and genome-wide H3K9me3 profiling in patient-derived neural progenitor cells, I find that the mutation-length CGG expansion on the X chromosome …
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Effects of Sertraline Treatment for Young Children with Fragile X Syndrome: Family Perspectives via Case Studies
… research on children with Fragile X Syndrome (FXS) lacks inclusion of qualitative outcomes on the child’s daily occupational performance. Standardized measurements are frequently utilized and provide useful information, however, can be less sensitive to change (Berry Kravis et al., 2013) and …
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Exploring Neural Activities in the Prefrontal Cortex of Fragile X Syndrome Mouse Models Using Electroencephalography
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a leading monogenic contributor to autism spectrum disorder. Human EEG studies have identified alterations in gamma power, alpha slowing, cross-frequency coupling, and reduced signal complexity, suggesting …
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An Examination of the Mechanisms of Neocortical Network Excitability in a Mouse Model of Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common heritable form of mental retardation. FXS is caused by loss of function mutations in the product of the Fmr1 gene, the Fragile X Mental Retardation Protein (FMRP). Many FXS patients display symptoms that are indicative of hyperexcitable circuitry, …
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Fragile X Mental Retardation Protein Induces Synapse Loss Through Acute Postsynaptic Translational Regulation
Fragile X Syndrome (FXS) is the most common form of inherited mental retardation. The root cause of FXS is loss of the function of a single protein: the Fragile X Mental Retardation Protein (FMRP). FMRP is an RNA-binding protein that plays a complex role in translational regulation. FMRP may be an …
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Spontaneous activity in the mouse visual cortical slice: biophysical characterization and pathophysiology
… treatment for Fragile X Syndrome (FXS), the leading inherited cause of intellectual disability, the search continues for novel ways to address the core pathophysiology of this neurodevelopmental disorder. FXS is caused by silencing of the FMR1 gene, which results in the loss of …
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Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
<p>Fragile X syndrome (FXS) is the most common form of inherited mental retardation. It is caused by a mutation in the fragile X mental retardation (FMR1) gene on the X chromosome. Many children with FXS exhibit autistic behaviors and deficits in motor coordination including speech articulation …
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Identification And Rescue Of Misregulated Insulin Signaling In A Drosophila Model Of Fragile X Syndrome
Fragile X syndrome (FXS) is an undertreated neurodevelopmental disorder characterized by low IQ and a range of symptoms including disordered sleep and autism. Although FXS is the most prevalent inherited cause of intellectual disability, its mechanistic underpinnings are not well understood. Using …
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Modelling fragile X syndrome in rats: new directions in translational research
Fragile X syndrome (FXS) is the leading single gene cause of intellectual disability and Autism Spectrum Disorder (ASD). It is caused by epigenetic silencing of the fragile X mental retardation gene (FMR1), causing a loss of Fragile-X Mental Retardation Protein (FMRP). Over the last 2 decades, much …
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Multiple Gq-Coupled Receptors Converge on a Common Protein Synthesis-Dependent Long Term Depression That Is Affected in Fragile X Syndrome
… model of fragile X syndrome mental retardation (FXS, Fmr1 KO mice). In fact, group I mGluR antagonism ameliorates some symptoms of FXS in model organisms. However, disagreement exists in the literature as to the specific roles of mGluR1 and mGluR5 in LTD. Using pharmacological and genetic …
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Neuronal FMRP: facilitating learning in a critical brain network for zebra finch song acquisition and regulating synaptic miRNAs spatio-temporally
Fragile X syndrome (FXS) is a genetic disease caused by absent expression of the normal fragile X protein FMRP, presenting with a constellation of features including intellectual disability, connective tissue abnormalities, and impaired vocalization (speech and language). FMRP is an RNA-binding …
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