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Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within…

Devlin(Lisa A),Shepherd(C H),Crawford(H),Mor… Dev Med Child Neurol 2006-07-06

...TSC2). TSC2 mutations were correlated with a more severe phenotype. The new mutation rate was calculated at 64%. We conc...

AKT activation in human glioblastomas enhances proliferation via TSC2 and S6 ki…

Riemenschneider(Markus J),Betensky(Rebecca A… Cancer Res 2006-07-27

...TSC2, p-mTOR, p-4E-BP1, p-S6K, p-S6, and p-STAT3 were found in regions defined by elevated AKT activation. However, only...

Clinical and molecular insights into lymphangioleiomyomatosis.

Steagall(Wendy K),Taveira-DaSilva(Angelo M),… Sarcoidosis Vasc Diffuse Lung… 2006-03-28

...TSC2 have been implicated in the etiology of LAM, as mutations and loss of heterozygosity (LOH) in TSC2 have been detect...

Mutations in the PI3K/PTEN/TSC2 pathway contribute to mammalian target of rapam…

Kaper(Fiona),Dornhoefer(Nadja),Giaccia(Amato… Cancer Res 2006-03-21

...TSC2 deficiency is rapamycin-resistant, suggesting that TSC2 affects an apoptotic pathway. Tumors derived from TSC2 wild...

Hypoxia-inducible factor-1alpha polymorphisms and TSC1/2 mutations are compleme…

Hebert(Carla),Norris(Kathleen),Parashar(Pall… Mol Cancer 2006-12-04

...TSC2 mutations. Wild-type TSC2 cells targeted with siRNA to TSC2 exhibited increased levels of HIF-1alpha. Transfection ...

Mechanism of Akt1 inhibition of breast cancer cell invasion reveals a protumori…

Liu(Hong),Radisky(Derek C),Nelson(Celeste M)… Proc Natl Acad Sci U S A 2006-04-25

...TSC2 rescues the migration phenotype of myr-Akt1-expressing tumor cells, and high levels of TSC2 in breast cancer patien...

The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhi…

Rosner(Margit),Freilinger(Angelika),Hengstsc… Mutat Res 2006-10-11

...TSC2 on chromosome 16p13.3 encoding tuberin. TSC patients carry a mutant TSC1 or TSC2 gene in each of their somatic cell...

The diverse clinical manifestations of tuberous sclerosis complex: a review.

Rosser(Tena),Panigrahy(Ashok),McClintock(Wil… Semin Pediatr Neurol 2006-09-05

...TSC2 genes are making genotype-phenotype correlations possible. While managing seizures, cognitive dysfunction, and beha...

The neurobiology of tuberous sclerosis complex.

Ess(Kevin C) Semin Pediatr Neurol 2006-09-05

...TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, d...

Regulation of microtubule-dependent protein transport by the TSC2/mammalian tar…

Jiang(Xiuyun),Yeung(Raymond S) Cancer Res 2006-07-18

...TSC2 possess high levels of Rheb-GTP resulting in constitutive mTOR activation. We have shown previously that the TSC1/T...

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