Results 31 to 40 of about 18,157 (223)
Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study
Translational Neuroscience, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman +7 more
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Cell Reports, 2022 Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon +3 more
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Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3.
Hoogeveen - Westerveld, Marianne +5 more
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Structure of the TBC1D7–TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region [PDF]
Journal of Molecular Cell Biology, 2016 TSC1 and TSC2 mutations account for the majority of tuberous sclerosis complex cases. The TSC1 and TSC2 proteins assemble into a complex that is stabilized by TBC1D7 through its direct interaction with the TSC1 coiled coil (CC) region. Loss of TBC1D7 is associated with intellectual disability and megalencephaly. Here, we determine the crystal structure
Gai, Z C +7 more
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Scientific Reports, 2017 The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In
Hong-Mei Zhang +3 more
doaj +1 more source
PLoS ONE, 2013 The tumor-suppressor genes TSC1 and TSC2 are mutated in tuberous sclerosis, an autosomal dominant multisystem disorder. The gene products of TSC1 and TSC2 form a protein complex that inhibits the signaling of the mammalian target of rapamycin complex1 ...
Maki Ohsawa +5 more
doaj +1 more source
Cell Reports, 2021 Summary: Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder that often presents with psychiatric conditions, including autism spectrum disorder (ASD).
Katelyn N. Benthall +5 more
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TSC1 controls macrophage polarization to prevent inflammatory disease [PDF]
Nature Communications, 2014 Macrophages acquire distinct phenotypes during tissue stress and inflammatory responses, but the mechanisms that regulate the macrophage polarization are poorly defined. Here we show that tuberous sclerosis complex 1 (TSC1) is a critical regulator of M1 and M2 phenotypes of macrophages.
Linnan, Zhu +14 more
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Akt phosphorylates both Tsc1 and Tsc2 in Drosophila, but neither phosphorylation is required for normal animal growth. [PDF]
PLoS ONE, 2009 Akt, an essential component of the insulin pathway, is a potent inducer of tissue growth. One of Akt's phosphorylation targets is Tsc2, an inhibitor of the anabolic kinase TOR. This could account for part of Akt's growth promoting activity.
Sibylle Schleich, Aurelio A Teleman
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Molecular Genetics & Genomic Medicine, 2020 Background Tuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes.
Cong Qiu +8 more
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