Journal Article10.1007/S004390000348
Molecular genetic advances in tuberous sclerosis
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TL;DR: This is the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.
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Abstract: Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.
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Citations
Neuro‐epileptic determinants of autism spectrum disorders in tuberous sclerosis complex
TL;DR: It is indicated that individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early-onset, persistent spasm-like seizures.
A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice
Toshiyuki Kobayashi,Osamu Minowa,Yoshinobu Sugitani,Setsuo Takai,Hiroaki Mitani,Etsuko Kobayashi,Tetsuo Noda,Okio Hino +7 more
TL;DR: The Tsc1 knockout mouse described here will be a useful model to elucidate the function of TSC1 and Tsc2 products as well as pathogenesis of TS.
273
Tuberous sclerosis complex and epilepsy : Recent developments and future challenges
TL;DR: Tuberous sclerosis complex is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2.
268
Spectrum of Phosphatidylinositol 3-Kinase Pathway Gene Alterations in Bladder Cancer
Fiona M. Platt,Carolyn D. Hurst,Claire Taylor,Walter M Gregory,Patricia Harnden,Margaret A. Knowles +5 more
TL;DR: The lack of redundancy of alterations suggests that single-agent PI3K-targeted therapy may not be successful in these cancers, and a well-characterized series of cell lines are provided for use in preclinical studies of targeted agents.
261
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
TL;DR: It is demonstrated that GAP activity is essential for the cellular function of TSC2 to inhibit S6 kinase (S6K) phosphorylation.
244
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