Global ETD Search
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Showing 1 to 20 of 92 for “"Fragile X"”.
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Microrna-mediated regulation and the fragile X family of proteins
… work is to understand how two members of the fragile X family of RNA binding proteins, fragile X mental retardation protein (FMRP) and FXR1P, are regulated by post-translational modifications and microRNAs (miRNAs), respectively. Both proteins play key roles in normal development and function. …
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Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome
… ASD and investigate their therapeutic potential. Fragile X syndrome is a trinucleotide repeat disorder where repeat expansion in the FMR1 5’ untranslated region triggers its methylation and represses its transcription. Yet we were unable to reproduce this methylation when we aggressively expanded …
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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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The Role of G-Quadruplex RNA Motif in Fragile X Syndrome
Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is caused by the loss of expression of the fragile X mental retardation protein (FMRP). As an RNA binding protein, FMRP has been proposed to regulate the transport and translation of specific message RNA (mRNA). It has …
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The Expressed Emotion of Mothers of Children with Fragile X Syndrome
… revealed that 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 …
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Synaptic Plasticity in the Cerebral Cortex of Fragile X Knockout Mice
In the next experiments, the ultrastructure of the visual cortex was examined in young Fmr1 knockout and wildtype mice. The rate of developmental synaptogenesis between the two genotypes was similar, but Fmr1 knockout mice exhibited levels of synaptic protein synthesis lower than those of wildtype …
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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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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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Developmental Trajectories of Effortful Control In Young Boys With Fragile X Syndrome
… (Derryberry & Rothbart, 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 …
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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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Developmentally Related Increased Seizure Susceptibility to Pentylenetetrazole in Fragile X Knockout Mice
These experiments have demonstrated that fragile X knockout mice are more susceptible than control animals to the chemoconvulsant PTZ as adults, but not as juveniles. Furthermore, the temporal progression suggests that there is a developmental involvement in this seizure susceptibility. The …
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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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Physiological Correlates of Maternal Responsivity In Mothers of Preschools With Fragile X Syndrome
… examined this relationship in populations with Fragile X syndrome (FXS). Fragile X syndrome is the leading known inherited cause of intellectual disability. The current study explored potential physiological correlates of maternal responsivity and negative parenting behaviors, consisting of …
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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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Postnatal development of the somatosensory cortex in a rat model of Fragile X Syndrome
Fragile X Syndrome (FXS) is a common single-gene cause of autism and intellectual disability. Prevalent symptoms such as seizures and sensory hypersensitivity arise from cortical dysfunction, which could be underpinned by cortical hyperexcitability. Despite extensive research, currently there are …
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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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Living with Fragile X Syndrome: Occupations as an Outcome Measure in a Clinical Trial
… measure in a clinical trial for children with fragile X syndrome (FXS). A qualitative approach was used to analyze twenty-five parent interviews with children with FXS who participated in a double-blind medication trial. Each participant received either sertraline or a placebo. The aim of this …
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