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Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes.

Vinters(H V),Park(S H),Johnson(M W),Mischel(… Dev Neurosci 2000-02-10

...TSC2, which encode (respectively) the proteins hamartin and tuberin. There is circumstantial evidence that both proteins...

Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase a…

Gable(K),Slife(H),Bacikova(D),Monaghan(E),Du… J Biol Chem 2000-04-12

...TSC2 and LCB2/TSC1 genes encode homologous proteins of the alpha-oxoamine synthase family required for serine palmitoylt...

Parallels between tuberous sclerosis complex and neurofibromatosis 1: common th…

Gutmann(D H) Semin Pediatr Neurol 1999-03-18

...TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecu...

Generation of metastatic variants of Eker renal carcinoma cell lines for experi…

Fukuda(T),Hirayama(Y),Mitani(H),Maeda(H),Tsu… Jpn J Cancer Res 1999-02-05

...Tsc2 is the rate-limiting step for renal carcinogenesis in the Eker rat model. Although inactivation of Tsc2 results in ...

Cloning and characterization of a mouse homologue (mNthl1) of Escherichia coli …

Sarker(A H),Ikeda(S),Nakano(H),Terato(H),Ide… J Mol Biol 1999-07-12

...Tsc2) gene in a 5'-to-5' orientation by sequence analysis and was assigned to chromosome 17A3 by in situ hybridization.

Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in e…

Rennebeck(G),Kleymenova(E V),Anderson(R),Yeu… Proc Natl Acad Sci U S A 1999-01-28

...Tsc2 locus has been described in an animal model, the Eker rat. We report that the homozygous state of this mutation (Ts...

Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tube…

Soucek(T),Yeung(R S),Hengstschläger(M) Proc Natl Acad Sci U S A 1999-01-28

...TSC2 in TSC2-negative cells. High ectopic levels of p27 have cell cycle inhibitory effects in TSC2-positive cells but no...

Mutations in the TSC1 gene account for a minority of patients with tuberous scl…

Ali(J B),Sepp(T),Ward(S),Green(A J),Yates(J … J Med Genet 1999-03-22

...TSC2). The recently cloned TSC1 gene has 23 exons spanning some 40 kb of genomic DNA with an 8.6 kb transcript. We now r...

Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia…

Imai(K),Sarker(A H),Akiyama(K),Ikeda(S),Yao(… Gene 1999-01-21

...TSC2) gene on chromosome 16p13.3 in a 5'-to-5' orientation. Transcription initiation sites of both NTHL1 and TSC2 genes ...

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated pa…

Beauchamp(R L),Banwell(A),McNamara(P),Jacobs… Hum Mutat 1999-06-04

...TSC2 is yet to be determined. We have examined the entire coding sequence of the TSC2 gene in 20 familial and 20 sporadi...

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