Tuberous Sclerosis Complex
Survivin Expression in Tuberous Sclerosis Complex Cells
... conclusion, Tuberous Sclerosis Complex (TSC) is a tumor suppressor gene disorder characterized by muta- tions in the TSC1 or TSC2 genes that lead to the development of benign tu- mors involving ...
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
... Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex in the European Union [NCT02098759]). To be most effective, treatment should be ...
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Possible Prevention of Tuberous Sclerosis Complex Lesions
... of Tuberous Sclerosis Complex Lesions abstract Tuberous sclerosis complex (TSC) is a genetic disorder characterized by mammalian target of rapamycin (mTOR) activation and growth ...
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Glucose deprivation in tuberous sclerosis complex-related tumors
... Abstract Background: Cancer cells possess unique metabolic phenotypes that are determined by their underlying oncogenic pathways. Activation of the PI3K/Akt/mTOR signaling cascade promotes glycolysis and leads to ...
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Current concepts on epilepsy management in Tuberous Sclerosis Complex
... Resection of ictal high frequency oscillations is associated with favorable surgical outcome in pediatric drug resistant epilepsy secondary to tuberous sclerosis complex.. Lacosamide us[r] ...
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Genetics of tuberous sclerosis complex: implications for clinical practice
... Abstract: Tuberous sclerosis complex (TSC) is a multisystem disorder that results from hetero- zygous mutations in either TSC1 or ...a complex to constitutively inhibit mechanistic target of ...
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ATTENTION DEFICIT HYPERACTIVITY DISORDER AND TUBEROUS SCLEROSIS COMPLEX
... Between 5% and 7% of school age children and 2-5% of adults meet criteria for ADHD and have symptoms that interfere with academic performance, work, and social activities. In tuberous sclerosis ...
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Tuberous sclerosis complex: everything old is new again
... Abstract Tuberous Sclerosis Complex (TSC) is a multi- organ genetic disease caused by loss of function of either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) ...
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Abdominal ultrasonographic manifestations in pediatric patients with tuberous sclerosis complex
... Background: Tuberous sclerosis complex (TSC) is a rare genetic disease which leads to formation of benign tumors in the brain and other organs of the ...
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Early manifestations of renal disease in patients with tuberous sclerosis complex
... Patients and methods We conducted a single-center, retrospective review of chil- dren and young adults (aged < 25 years of age) who were followed by the Tuberous Sclerosis Complex Center at NYU ...
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Clinical management of tuberous sclerosis complex over the lifetime of a patient
... Abstract: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by nonmalignant tumors (hamartomas) that can occur in various organ systems, including the brain, kidneys, lungs, skin, ...
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Kidney damage due to tuberous sclerosis complex: Management recommendations
... reserved. Tuberous sclerosis complex (TSC) is a autosomal dominant phakomatosis affecting approximately one in 6000 births, with a prevalence of one in 11,000 to 14,000 after the age of 10 years ...
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Changes in Language Pathways in Tuberous Sclerosis Complex Patients with Autism
... background Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease caused by loss of either the TSC1 (encoding hamartin) or TSC2 (encoding tuberin) ...(GAP) complex ...
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WHAT COLLEGE PROFESSORS NEED TO KNOW ABOUT TUBEROUS SCLEROSIS COMPLEX
... IS TUBEROUS SCLEROSIS COMPLEX? Tuberous sclerosis complex (TSC) is a genetic disorder that affects many organs and causes tumors to form onn the skin, kidneys, brain, heart, ...
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Tuberous-sclerosis complex-related cell signaling in the pathogenesis of lung cancer
... of tuberous sclerosis complex ...suppressor complex results in an upregulation of ...TSC complex are ...the Tuberous-sclerosis complex-related cell signaling in the ...
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Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex
... Jian-Ping Zhao 2,3 and Akira Yoshii 1,2,3* Abstract Tuberous sclerosis complex (TSC) is a neurogenetic disorder associated with epilepsy, intellectual disabilities, and autistic behaviors. These ...
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Proton MR Spectroscopy of Cortical Tubers in Adults with Tuberous Sclerosis Complex
... BACKGROUND AND PURPOSE: Significant advances have been made in understanding the origin of brain manifestations associated with tuberous sclerosis complex (TSC), most recently the idea that cortical ...
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Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation
... Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation Juxiang Cao, 1 Magdalena E. Tyburczy, 1 Joel Moss, 2 Thomas N. Darling, 3 Hans R. Widlund, 4 and David J. ...
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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
... Aglaia Vignoli 1* , Francesca La Briola 1 , Angela Peron 1 , Katherine Turner 1 , Chiara Vannicola 1 , Monica Saccani 2 , Elisabetta Magnaghi 2 , Giulia Federica Scornavacca 1 and Maria Paola Canevini 1 Abstract ...
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A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
... NULL HYPOTHESIS CLASS OF EVIDENCE A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex Iris E. Overwater, MD, PhD, Andr´ e B. Rietman, MSc, Sabine E. Mous, ...
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