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Urokinase-type plasminogen activator (uPA) is critical for progression of tuber…

Stepanova(V),Dergilev(KV),Holman(KR),Parfyon… J Biol Chem 2017-00-15

...TSC2-null tumor cells and immortalized TSC2-null angiomyolipoma cells, but not in cells with intact TSC. Induction of gl...

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells …

Julian(LM),Delaney(SP),Wang(Y),Goldberg(AA),… Cancer Res 2017-00-15

...TSC2 tumor suppressor genes. Cell or animal models that accurately reflect the pathology of LAM have been challenging to...

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler(KM),da Silva(C),Alexander(JJ),Hegde(M… Pediatr Neurol 2017-12-00

...TSC2. Sixteen additional genes had variants identified in single individuals. We identified 87 variants in 30 different ...

Beyond polycystic kidney disease.

Santos(SF),Francisco(T),Cordeiro(AI),Lopes(M… BMJ Case Rep 2017-10-04

...TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant po...

Papillary thyroid carcinoma in a boy with familial tuberous sclerosis complex a…

Flader(M),Kurzawa(P),Maldyk(J),Sygut(J),Hara… Curr Oncol 2017-10-00

...TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and ...

Epilepsy may be the major risk factor of mental retardation in children with tu…

Wang(YY),Pang(LY),Ma(SF),Zhang(MN),Liu(LY),Z… Epilepsy Behav 2017-00-00

...TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791)...

Hyperactivated mTORC1 downregulation of FOXO3a/PDGFRα/AKT cascade restrains tub…

Wang(L),Ni(Z),Liu(Y),Ji(S),Jin(F),Jiang(K),M… Oncotarget 2017-08-15

...TSC2 gene, leads to the development of tuberous sclerosis complex (TSC), a benign tumor syndrome with multiple affected ...

Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype stud…

Boronat(S),Barber(I),Thiele(EA) Am J Med Genet A 2017-07-00

Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the...

Genomic and transcriptomic heterogeneity in metaplastic carcinomas of the breas…

Piscuoglio(S),Ng(CKY),Geyer(FC),Burke(KA),Co… NPJ Breast Cancer 2017-00-00

...TSC2 observed in 8/17 MBCs support the contention that PI3K pathway activation plays a role in the development of MBCs. ...

Ragulator and GATOR1 complexes promote fission yeast growth by attenuating TOR …

Chia(KH),Fukuda(T),Sofyantoro(F),Matsuda(T),… Elife 2017-00-04

...Tsc2 complex, a known negative regulator of TORC1 signaling. The GATOR1 complex, which functions as Gtr1 GAP, is essenti...

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