Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions
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چکیده
منابع مشابه
Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.
In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulatio...
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Commentary In any form of epilepsy associated with distinct anatomical le-sions within the brain, questions arise as to whether the lesional tissue alone is epileptogenic, whether perilesional cortex is also epileptogenic, or whether even more remote cortical regions that appear structurally normal may serve as independent epileptic foci. In disorders associated with multiple distinct lesions, ...
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Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal. The TSC1/TSC2 protein complex regulates the state of activation of mTORC1. Tsc2(+/-) mice develop renal cystadenoma lesions which grow progressively. Both bortezomib and metformin have been proposed as p...
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PURPOSE Tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (AML) have a high lifetime risk of acute bleeding. MTOR-inhibitors are a promising novel treatment for TSC-AML, however adequate response to therapy can be difficult to assess. Early changes in MRI signal may serve as a novel early indicator for a satisfactory response to mTOR-inhibitor therapy of AML. MATERIALS AND METH...
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Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors that occur in multiple organ systems throughout the lifetime of the affected individuals. Renal angiomyolipomas occur in up to 80% of TSC patients, and chronic kidney disease from increasing tumor burden is the primary cause of TSC-related mortality. Our revi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/321972