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 39 for “"Rett Syndrome"”.
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Contextual Insights into the Rett Syndrome Transcriptome
Mutations in MECP2 are responsible for Rett syndrome (RTT), a severe X-linked neurological disorder characterized by loss of developmental milestones, intellectual disability and motor impairments. However, molecular insight into how these mutations affect the neuronal transcriptiome, disrupt …
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Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome
… 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 the repeat …
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An Analysis of Mitochondrial DNA in Rett Syndrome and Other Neurodegenerative Disorders
… is now focusing on neurodegenerative diseases. Rett Syndrome (RS), a progressive neurodegenerative disease with predominantly female cases, demonstrates morphologic mitochondrial changes, mitochondrial enzyme deficiencies and maternal inheritance (characteristic of mtDNA diseases). No …
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Studies on X chromosome inactivation and the X-linked disease Rett syndrome
(cont.) the RTT phenotype.
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Neocortical functional network development at the microscale: impairments and mechanisms in Rett Syndrome.
… rapid decline. The neurodevelopmental disorder, Rett Syndrome, characterised by Mecp2 deficiency, is a pertinent example of this. In the present thesis, I aimed to thoroughly characterise early neocortical functional network development at the microscale and how this is disrupted in a Rett …
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INVESTIGATING THE ROLE OF DEFECTIVE CELL TO CELL COMMUNICATION MECHANISMS IN RETT SYNDROME PATHOGENESIS
Rett syndrome (RTT) is a devastating neurodevelopmental disorder representing the main cause of severe intellectual disability in girls worldwide. Over 95% of individuals suffering from a classic form of RTT carry sporadic mutations in the X-linked MECP2 gene, encoding for the methyl-GpC-binding …
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Evidence-Based Instructional Practices for Teachers of Children With Rett Syndrome – A Case Study
… PRACTICES FOR TEACHERS</p> <p>OF CHILDREN WITH RETT SYDNROME</p> <p>by</p> <p>Todd L. Geren</p> <p>Kennesaw State University, 2020</p> <p>In this study, evidence-based practices (EBP) utilized for children with Rett syndrome (RTT) by a team of special educators in a rural elementary school was …
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Creation and establishment of transgenic mouse models for for Mecp2 gene, causing Rett syndrome
… modifiziert. Mecp2 ist für 95% aller Rett-Syndrom-Fälle verantwortlich. Trotz der ubiquitären Expression von MeCP2 wird angenommen, dass es einzigartige Funktionen in Neuronen hat. Aber bis heute ist wenig bekannt über die genaue Rolle von MeCP2 in neuronalen Zellen und über den …
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Cell-type specific contributions to Rett Syndrome : neuronal and astrocytic signaling and sensory processing
… for MeCP2 are the underlying genetic cause for Rett Syndrome (RTT), a devastating neurodevelopmental disorder that primarily affects girls. While the function of this transcriptional regulator remains elusive and complex, recent focus has turned to downstream signaling pathways as putative …
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Lung Defects Contribute to Respiratory Symptoms in a Mecp2-mutant Mouse Model of Rett Syndrome
Rett syndrome (RTT) is a progressive neuro-metabolic disorder caused by mutations in the X-linked gene, methyl-CpG-binding protein 2 (MECP2). After a period of seemingly normal post-natal development, RTT patients experience a developmental regression, consisting of loss of acquired verbal and …
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Developmental trajectory of functional neocortical networks in an in vitro mouse model of Rett syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder caused by loss-of-function MECP2 mutations, affecting ~1 in 10,000 female births. RTT causes progressive impairments in early life and has no cure. Despite known genetic origin in RTT, the mechanisms by which MECP2 mutations disrupt brain …
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Human induced pluripotent stem cell models of Rett Syndrome reveal deficits in early cortical development
Rett Syndrome (RTT) is a pervasive, X-linked neurodevelopmental disorder that predominantly affects girls. The clinical patient features of RTT are most commonly reported to emerge between the ages of 6-18 months and as such, RTT has largely been considered to be a postnatal disorder. The vast …
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NEURAL PRECURSOR/STEM CELL-BASED THERAPY: A NOVEL THERAPEUTIC APPROACH FOR THE TREATMENT OF RETT SYNDROME
Rett syndrome (RTT) is a postnatal progressive neurodevelopmental disorder with an incidence of 1:10,000 females born alive. It represents the most common genetic cause of severe intellectual disability in girls worldwide and it is caused by severe loss of function mutations in the MECP2 gene …
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Vitamin D Modulates Rett Syndrome Phenotypes and Underlying Cellular Pathways in an Mecp2-mutant Mouse Model
<p>Rett syndrome (RTT) is a progressive and severe X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MECP2. There is currently no effective treatment for RTT. Female RTT patients develop relatively normally during the first 6-18 months of life, after which …
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Decoding 5HMC as an Active Chromatin Mark in the Brain and its Link to Rett Syndrome
… inhibition of MeCP2 affinity to 5hmC by a Rett-syndrome-causing mutation, R133C. We then show that MeCP2 recognizes 5hmC and 5mC within CpA context. Modified CpAs were recently shown to exist in embryonic stem and neuronal cells, where it localizes to actively transcribed gene bodies. …
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THE INTERPLAY BETWEEN HPCAL4 AND MECP2: IDENTIFICATION AND CHARACTERIZATION OF A NOVEL PUTATIVE TARGET FOR RETT SYNDROME THERAPY
Rett Syndrome (RTT) is a severe neurodevelopmental disorder and the leading cause of intellectual disability in females with 1 in 10,000 births being affected. The symptoms start to manifest in between 6 and 18 months of age and these include intellectual disability, epilepsy and impairments of …
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Using machine learning for analysis of neuronal network activity
… dysfunctions underlying conditions such as Rett syndrome. Two-photon calcium imaging is used to capture neuronal network activity over time. This method produces large sets of images that are typically manually analyzed by skilled neuroscientists. Because this process is both time-consuming …
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Interaction of Quantal Inhibitory and Excitatory Neurotransmission in Regulation of Synaptic Homeostasis via Molecular Signaling
… of function mutations are the primary cause of Rett Syndrome. We characterized the effects of two candidate miRNAs on synapse function. One of these miRNAs, miR-101a, has opposing impacts on excitatory and inhibitory synapses, suggesting a role in regulating excitatory/inhibitory balance, a …
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Role of a PTP1B Pathway in the Neuropsychiatric Expression of a Mouse Maternal Immune Activation Model
… has been linked to mental disorders such as Rett Syndrome and anxiety. We asked if ablating neuronal PTP1B could protect from the expression of some neuropsychiatric phenotypes that appear in MIA models. In our MIA model induced with poly I:C injection at gestational day 9.5, we observed …
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