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A Case Report of Tuberous Sclerosis in Two Generations.

Chandrakala,Patil(Sharanagouda),Guruprasad(K… J Assoc Physicians India 2015-09-08

...TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition wi...

Analysis of gene expression array in TSC2-deficient AML cells reveals IRF7 as a…

Makovski(V),Jacob-Hirsch(J),Gefen-Dor(C),Sha… Cell Death Dis 2015-07-02

...TSC2-deficient AML cells, derived from a LAM patient. FTS indeed inhibited Rheb in these cells and attenuated their prol...

Mutational analysis of paediatric patients with tuberous sclerosis complex in K…

Lee(Jin Sook),Lim(Byung Chan),Chae(Jong-Hee)… Epileptic Disord 2015-03-26

...TSC2 mutations. TSC1 mutations included 8 frameshift and 4 nonsense mutations. TSC2 mutations included 12 frameshift, 10...

[Efficacy and safety of rapamycin in treatment of children with epilepsy compli…

Zou(Liping),Liu(Yujie),Pang(Lingyu),Ju(Jun),… Zhonghua Er Ke Za Zhi 2015-05-16

...TSC2 mutation in 20. Before rapamycin therapy, 59.62%, (31/52) patients took more than 3 antiepileptic drugs, of whom 10...

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a…

Rijal(Jharendra P),Dhakal(Prajwal),Giri(Smit… BMJ Case Rep 2015-08-10

...TSC2 genes present on the chromosome 16p13.3. These patients develop end-stage renal disease at an earlier age and have ...

[Subependymal giant cell astrocytoma associated with tuberous sclerosis complex…

Zitterbart(K) Klin Onkol 2015-06-30

...TSC2 genes. The pathogenic activation of mTORC1 leads to the development of subependymal giant cell astrocytomas in pati...

Arachnoid cysts in tuberous sclerosis complex.

Boronat(Susana),Caruso(Paul),Auladell(Maria)… Brain Dev 2015-05-28

...TSC2-PKD1 genes. Three patients (25%) had two or more arachnoid cysts, of whom two also had ADPKD. One patient with an a...

Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and …

Goncharova(Elena A),James(Melane L),Kudryash… PLoS One 2015-06-25

...Tsc2(-/-) MEFs showed an increased migration compared to Tsc2(+/+) MEFs that were abrogated by TSC2 re-expression. Deple...

PIP4kγ is a substrate for mTORC1 that maintains basal mTORC1 signaling during s…

Mackey(Ashley M),Sarkes(Deborah A),Bettencou… Sci Signal 2015-07-20

...Tsc2 deficiency. In Tsc2 null cells, mTORC1 activation was partially independent of amino acids or glucose and glutamine...

Everolimus in immunosuppressive treatment after kidney transplantation in a pat…

Tarasewicz(A),Dębska-Ślizień(A),Bułanowski(M… Transplant Proc 2015-10-26

...TSC2 genes, resulting in constitutive activation of the mammalian target of rapamycin (mTOR) and impairment of the cell ...

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