Mammalian target of rapamycin and tuberous sclerosis complex.
Ōsaka, Japan. In J Dermatol Sci, 31 Aug 2015
TSC is a multiple hamartomas syndrome with epilepsy, autism, mental retardation and hypopigmented macules that are caused by the constitutive activation of mTORC1 resulting from genetic mutation of TSC1 or TSC2.
Integrated genomic characterization of a pineal parenchymal tumor of intermediate differentiation.
Boston, United States. In World Neurosurg, 27 Aug 2015
Targeted exome sequencing showed mutations in TSC1(L388P) and IKZF3(F206C) while high-resolution array cytogenetics revealed losses in chromosomes 2, 3, 4, 8, 10, 11, 17, and 20, leading to single copy loss of PTEN and TP53.
Tuberous sclerosis complex.
Hartford, United States. In Pediatr Clin North Am, Jun 2015
The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13.
Coordinated regulation of protein synthesis and degradation by mTORC1.
Boston, United States. In Nature, Oct 2014
Genetic activation of mTORC1 through loss of the tuberous sclerosis complex tumour suppressors, TSC1 or TSC2, or physiological activation of mTORC1 in response to growth factors or feeding resulted in increased NRF1 expression in cells and tissues.
Molecular genetics of clear-cell renal cell carcinoma.
Dallas, United States. In J Clin Oncol, Jul 2014
Several additional tumor suppressor genes have been identified near the VHL gene, within a region that is frequently deleted in ccRCC on chromosome 3p: SETD2, BAP1, and PBRM1.