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Showing 1 to 20 of 70 for “"TSC"”.
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Identification of natural TSC-Associated Neuropsychiatric Disorders (TAND) clusters
Tuberous Sclerosis Complex (TSC) is associated with many learning, behavioural, neurodevelopmental and psychiatric difficulties. Over 90% of individuals with TSC will have some of these concerns yet no more than 20% receive support and treatment, even though these issues may cause the greatest …
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Characterization and Treatment of A Novel Mouse Model of Tsc-Associated Autism
<p>Tuberous sclerosis complex (TSC) is a dominant tumor suppressor disorder caused by mutations in either <em>TSC1 </em>or <em>TSC2.</em> The proteins of these genes form a complex to inhibit the mammalian target of rapamycin complex 1 (mTORC1), which controls protein translation and cell growth. …
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Sleep Disturbances in Adults with TSC: Influences of Treatment and Clinical Features
<p>Tuberous sclerosis complex (TSC) is a rare genetic condition caused by pathogenic variants in the <em>TSC1</em> or <em>TSC2</em> genes. TSC is characterized by a multisystem, neurocutaneous phenotype including skin lesions, hamartomas, and epilepsy. Additionally, TSC can present with an array of …
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The PI3-Kinase/TSC Pathway: A Role in Neural and Renal Development and Pathology
… downstream pathways. One AKT substrate is the TSC1/2 protein complex, which controls protein synthesis and cell growth through regulating mTOR activity. AKT inhibits TSC1/2 complex by directly phosphorylating TSC2, and in turn releases the inhibition of TSC1/2 complex on mTOR. Thus, loss of …
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Developing a labview based thermally stimulated current (tsc) controller to measure residual charge in electrospinning
Electrospinning is an electrohydrodynamic process for the fabrication of nanofibers which are widely used in therapeutical tissue engineering approaches. It utilizes the potential difference of an electrostatic field to overcome the surface tension of the polymer solution to extrude a fine jet of …
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Prevalence of Premature Ovarian Failure In Women With Tuberous Sclerosis
<p> Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor disorder characterized by hamartomas, or benign growths, in various organ systems. Inactivating mutations in either the <em>TSC1</em> or the <em>TSC2</em> gene cause most cases of TSC. Recently, the use of ovarian …
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Parental Stress In Tuberous Sclerosis Complex
<p>Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disorder with great clinical variability. As the needs of one child with TSC may vastly differ from another, parenting demands may similarly differ. Characterizing parental stress, or emotional maladaptation arising from parenting …
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Cell lineage choice during differentiation of trophoblast stem cells (tsc) is dependent on oxygen levels, and mediated by stress enzyme pathways and mitochondrial function
… or cellular response. Trophoblast tem cell (TSC) is one of the earliest differentiated stem cell within blastocyst, which is the stage of preimplantation embryo developed from fertilized egg. Different from another pluripotent embryonic stem cell, which is derived from inner cell mass in …
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Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic Partners
<p>Tuberous sclerosis complex (TSC) is a highly variable genetic condition characterized by multi-organ tumor predisposition. Due to the heritability, variability, and severity of this condition, individuals with TSC may face unique psychosocial challenges in dating and romantic relationships, …
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Characteristics of tuberous sclerosis complex in a South African cohort : description and parental understanding
Tuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive tumours or hamartomas in multiple organ systems. The condition is of autosomal dominant inheritance with an estimated incidence of 1 in 6000 live births. Population based studies estimate …
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Psychiatric Impact of Tuberous Sclerosis Complex and Utilization of Mental Health Treatment
<p>Tuberous sclerosis complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND). While 90% of individuals with TSC have some TAND features, only 20% receive treatment, leading to a 70% treatment gap. This study …
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Topics in Totally Self-Checking Circuits and Testable Cmos Circuits
A Totally Self-Checking (TSC) circuit belongs to a class of circuits used for Concurrent Error Detection (CED) purposes. It consists of a functional circuit that has encoded inputs and outputs and a checker that monitors these outputs and gives an error indication. It is known that the traditional …
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The Design of Programmable Logic Arrays With Concurrent Error Detection
… designed to achieve the totally self-checking (TSC) goal of producing a noncode word as the first erroneous output due to a fault. Since a strongly fault secure (SFS) circuits have been shown to be the largest class of circuits that achieve the TSC goal, we concentrate on the design of SFS PLAs …
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Self-Consistent Study of Topological Superconductivity in Two-Dimensional Quasicrystals
… superconductors. Topological superconductivity (TSC) results in a novel superconducting state characterized by a nonzero topological invariant in the bulk. There is a relation between the bulk and edges or surfaces, which is called the bulk-edge correspondence. The bulk-edge correspondence …
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Characterizing and Treating The Neuropathology of Tuberous Sclerosis Complex In The Mouse
Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder affecting approximately 1 in 6000 births. Developmental brain abnormalities cause substantial morbidity and mortality and often lead to neurological disease including epilepsy, cognitive disabilities, and autism. TSC is …
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Cholesterol reduction in men: an experimental investigation of intensive treatment with frequent feedback versus a simple educational treatment
… years) with elevated total serum cholesterol (TSC) levels (x = 233 mg/dl). Multiple measures of TSC were taken. After an extended baseline phase, participants were randomly assigned to treatment conditions. One group ("Simple") received a cholesterol reduction class only (designed to stress the …
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Analysis of nerve terminal dysfunction in autoimmune neuropathy
… as producing selective terminal Schwann cell (TSC) injury whilst sparing neuronal membranes at NMJs in BALB/c and C57BL/6 mouse strains in a dose dependent manner. These changes occur in the absence of observable acute physiological or morphological changes to the nerve terminal, suggesting …
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Molecular genetic investigation of the variability of the GTPase activating protein- (GAP-) related domain of the tuberous sclerosis-2 (TSC2) gene in TSC patients and healthy subjects
… their products have been identified as causing TSC when they are defective: TSC1 on chromosome 9q34.3 codes for the protein hamartin and TSC2 on chromosome 16p13.3 codes for tuberin. Tuberin shows homology to GTPase activating proteins (GAPs) and hamartin and tuberin may interact with one …
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Identifying Psychosocial Variables Related to Child and Adolescent Adjustment Following a Residential Fire: The Role of Appraisal, Coping, and Family Environment
… adapted the Transactional Stress and Coping (TSC) model for this purpose. This was an extension of the TSC model from the child chronic health to the trauma literature. The TSC model proposes that child and adolescent adjustment (i.e., in the present study, symptoms levels of PTSD, depression, …
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A Theory of Scientific Change
… general descriptive theory of scientific change (TSC). In the first part of the dissertation, I clarify the scope of TSC by defining it as a descriptive theory that reveals the actual mechanism of transitions in the mosaic, regardless of its scale, time period or field of inquiry. Then, I …
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