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 23 for “"Tuberous sclerosis complex"”.
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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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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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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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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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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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Visual cortical plasticity : the role of parvalbumin expressing inhibitory neurons and abnormalities in models of neurodevelopmental disorders
… inhibitory imbalance: Rett syndrome (RTT) and tuberous sclerosis complex (TSC). Surprisingly, mouse models of RTT and TSC exhibit abnormal SRP phenotypes, but in opposite directions.
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Ankyrin-B and Mtor Complex 1 In The Regulation of Electrical Activities In The Heart
<p>The mammalian target of rapamycin complex 1 (mTORC1) activity is paramount in the regulation of electrical activities in the brain and the heart. In the brain, the tumor suppressor gene <em>TSC2</em> encodes the protein product tuberin that interacts with hamartin to form a heterodimer Tuberous …
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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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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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Biochemical and Biophysical Studies of Novel Features of Ras-related Protein Interactions
… target of rapamycin (mTOR) pathway. The Tuberous Sclerosis Complex 2 protein (TSC2) regulates Rheb by functioning as a GTPase activating protein (GAP). At present, very little is known about the molecular features of the Rheb-TSC2 protein interaction. We present biochemical and …
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Regulation of peripheral nerve regeneration by the mTOR pathway
… upregulation of mTOR activity by deletion of tuberous sclerosis complex 2: TSC2) in DRGs is sufficient to enhance axonal growth capacity in vitro and in vivo. We identified GAP-43 as a downstream target of this pathway, which may contribute to enhance regenerative ability. However, while …
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Developing Deep-Learning Methods for Diagnosis and Prognosis of Pediatric Progressive Diseases Using Modern Imaging Techniques
… to correlate the neurological disease state in tuberous sclerosis complex (TSC) neurological disease state with imaging findings is a standard part of patient care. However, such analysis of neuroimaging is time- and labor-intensive. Automated approaches to these tasks are needed to improve …
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THE ROLE OF TRANSLATION ELONGATION DEFICITS IN ALZHEIMER’S DISEASE PATHOGENESIS
… slices. Using mice lacking the gene for tuberous sclerosis complex 2 (TSC2+/-), an upstream negative regulator of eEF1A, we upregulated eEF1A expression and prevented Aβ-induced synaptic plasticity deficits. Unlike eEF1A, expression of eEF2 was not altered in hippocampal samples from …
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Mtorc1 Signaling In Memory Formation and Dysfunction
<p>The mechanistic Target of Rapamycin Complex 1 (mTORC1) pathway integrates cellular availability of growth factors, energy and amino acids to regulate protein synthesis and autophagy. The mTORC1 pathway has also been shown to be required for memory consolidation, and its dysregulation is …
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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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Therapeutic targeting of DGKA-mediated macropinocytosis in lymphangioleiomyomatosis
… of the lung. It occurs in 80% of people with Tuberous Sclerosis Complex disorder (TSC), a multisystem, autosomal dominant disorder caused by mutations in tumor suppressor genes TSC1 and TSC2. Spontaneous biallelic mutations in these genes can give rise to sporadic LAM. Mammalian target of …
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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
Tuberous sclerosis complex is an inherited disorder characterized by the development of benign tumors in various tissues. These tumors can affect the central nervous system, skin, kidney, heart and almost any organ. The frequency is currently estimated to be 1:6000 and the variation in severity of …
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Identification of determinants of sensitivity to duocarmycin analogues: A class of potent anti-cancer drugs
… mutations of mTORC1 regulatory proteins such as tuberous sclerosis complex (TSC1 and TSC2) and STK11 were identified as potential markers to duocarmycin analogues cytotoxicity.
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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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Investigation into the effects and mechanisms of rapamycin treatment in two mouse models of Complex I-deficient neurological pathology
… Huntington's disease, Fragile X syndrome, Tuberous Sclerosis Complex and Leigh syndrome. How regulation of mTOR activity and its downstream effectors interact with underlying neural mechanisms of disease has been a topic of considerable debate. The studies presented here investigate the …
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