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A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.

Roberts(Penelope S),Ramesh(Vijaya),Dabora(Sa… Ann Hum Genet 2004-08-10

...TSC2. We found this genetic variation in 4 of 800 TSC patients screened for mutations in TSC1 and TSC2. In every case, t...

Quantifying the intragenic distribution of human disease mutations.

Miller(M P),Parker(J D),Rissing(S W),Kumar(S) Ann Hum Genet 2004-08-10

...TSC2, G6PD, PAX6, RS1, and PAH) and (2) sets of polymorphic replacement and silent mutations found in two genes (CFTR an...

Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker ra…

Mizuguchi(Masashi),Mori(Masato),Nozaki(Yasuy… Acta Neuropathol 2004-05-03

The Eker rat is an animal model of tuberous sclerosis caused by a mutation in the Tsc2 gene encoding a tumor suppressor ...

Pam and its ortholog highwire interact with and may negatively regulate the TSC…

Murthy(Vanishree),Han(Sangyeul),Beauchamp(Ro… J Biol Chem 2004-02-10

...Tsc2 complex in Drosophila and could negatively regulate Tsc1.Tsc2 activity. Based on genetic studies, HIW has been impl...

Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous s…

Astrinidis(Aristotelis),Senapedis(William),C… J Biol Chem 2004-01-30

...TSC2 genes, respectively, form a complex and inhibit signaling by the mammalian target of rapamycin. Here, we demonstrat...

Hereditary renal carcinogenesis fitting Knudson's two-hit model: genotype, envi…

Hino(Okio) Genes Chromosomes Cancer 2004-01-05

...Tsc2 gene mutant) rat model of hereditary renal carcinoma (RC) is an example of Mendelian dominantly inherited predispos...

Multiple roles of the tuberous sclerosis complex genes.

Yeung(Raymond S) Genes Chromosomes Cancer 2004-01-05

...TSC2 tumor suppressor gene. Along with TSC1, these two genes behave as expected for tumor suppressor genes with evidence...

Metastasis of benign tumor cells in tuberous sclerosis complex.

Henske(Elizabeth Petri) Genes Chromosomes Cancer 2004-01-05

...TSC2 gene products, hamartin and tuberin, respectively, will also be considered. Hamartin and tuberin may play functiona...

Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tubero…

Kwiatkowski(David J) Cancer Biol Ther 2004-03-08

...TSC2 in the TSC1/TSC2 protein complex, inactivating it; while TSC1/TSC2 has GAP activity for the Rheb GTPase (a member o...

Rheb fills a GAP between TSC and TOR.

Manning(Brendan D),Cantley(Lewis C) Trends Biochem Sci 2004-01-29

...TSC2 that are mutated in the tuberous sclerosis complex disease. Recently, several laboratories have independently repor...

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