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.
Results
Showing 1 to 20 of 32 for “"Tuberous sclerosis"”.
-
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 …
-
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 …
-
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 …
-
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, …
-
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 …
-
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 …
-
Pilot validation of the Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) checklist as a screening tool for neuropsychiatric manifestations
Includes abstract. Includes bibliographical references.
-
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 …
-
Corpus callosum morphology in children on mid-sagittal MR imaging
… to insert normally (p<0.01). Children with tuberous sclerosis had significantly thinner splenia (p=0.02). Conclusion: There is a distinct pathological appearance of the CC. The immature appearance of the corpus callosum can mirror this but is distinguished by normal insertion of the fornix …
-
Automated, highly scalable RNA-seq analysis
… changes in the cortex of a mouse model of tuberous sclerosis with a neuron-specific knockout of Tsc1. We show that upregulation of the serotonin receptor Htr2c causes aberrant calcium spiking in the Tsc1 knockout mouse, and implicate it as a novel therapeutic target for tuberous sclerosis. …
-
Esclerose tuberosa: buscando a melhoria de vida para o indivíduo e sua família
The purpose of this article is to discuss a tuberous or Bourneville syndrome sclerosis, to the increase of knowledge on this syndrome, how is the process of learning, with the aim of a possible psicopedagogica intervention and therefore a better life for the person who has the syndrome and his …
-
Developing Fluorescent Tools to Dissect the Role of Tuberin at Mitotic Onset
Tuberous Sclerosis is a genetic disorder that causes benign tumours to form in the kidneys, brain, skin, and other organs. This disease is caused by inactivating mutations in either the TSC1 or TSC2 gene encoding for Hamartin and Tuberin, respectively. Mechanistically, Hamartin and Tuberin form a …
-
Methods to measure and relate the viscoelastic properties of brain tissue
… loss moduli of brain tissue in (1) healthy and tuberous sclerosis mouse brain and (2) healthy porcine brain. Next, cavitation rheology - a technique used to measure the elastic modulus of compliant polymers and tissues - is implemented for the first time in porcine brain tissue. Finally, a new …
-
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.
-
Ankyrin-B and Mtor Complex 1 In The Regulation of Electrical Activities In The Heart
… interacts with hamartin to form a heterodimer Tuberous Sclerosis Complex (TSC) that regulates mTORC1. When <em>TSC2 </em>is disrupted, mTORC1 activity becomes dysregulated resulting in abnormal electrical activities in the brain manifesting in the form of epileptic seizures. In the heart, …
-
AMP-activated protein kinase-mTOR signaling pathway and hepatitis B virus replication
… regulatory-associated protein of mTOR(Raptor)와 tuberous sclerosis 2(TSC2)의 인산화는 증가하였다. HepG2.2.15세포에서 Akt 발현과 인산화가 증가하였다. Protein phosphatase 2A(PP2A), S6 kinase 1(S6K1)와 eukaryotic translation initiation factor 4E-binding protein 1(4E-BP1)의 발현과 인산화는 HepG2.2.15세포에서 증가하였다. Huh7 HBV WT stable …
-
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. …
-
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 …
-
Contributions of metabotropic glutamate receptors to the pathophysiology of autism
… in the mouse models of fragile X (FX) and tuberous sclerosis (TSC), the two leading inherited causes of ASD. Specifically, we determined if altered synaptic protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) is a shared disruption in these disorders, and therefore …
-
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 …
Page 1 of 2