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Differential cellular expression of neurotrophins in cortical tubers of the tub…

Kyin(R),Hua(Y),Baybis(M),Scheithauer(B),Kols… Am J Pathol 2001-12-04

...TSC2 locus mutations were confirmed and the mean tuberin mRNA expression levels was reduced across all nine cases. Consi...

Epilepsy and genetic malformations of the cerebral cortex.

Guerrini(R),Carrozzo(R) Am J Med Genet 2001-12-04

...TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 muta...

Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangiole…

Maruyama(H),Ohbayashi(C),Hino(O),Tsutsumi(M)… Pathol Int 2001-12-04

...TSC2 at 16p13.3. TSC genes are considered to be tumor suppressor genes, and mutations in them may lead to abnormal diffe...

Suppression of cytochrome P450 1A1 and 4A1 gene expression in renal carcinomas …

Okamoto(T),Momose(S),Hino(O) Int J Oncol 2001-02-15

...TSC2 gene mutant (Eker) rat RCs are an example of a Mendelian dominantly inherited predisposition to a specific cancer i...

Hamartin expression and interaction with tuberin in tumor cell lines and primar…

Catania(M G),Johnson(M W),Liau(L M),Kremen(T… J Neurosci Res 2001-04-26

...TSC2, that encodes tuberin. We have examined hamartin expression in a diverse range of human and rat cell lines and prim...

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the s…

Daniels(R J),Peden(J F),Lloyd(C),Horsley(S W… Hum Mol Genet 2001-06-07

...TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and...

Tuberin phosphorylation regulates its interaction with hamartin. Two proteins i…

Aicher(L D),Campbell(J S),Yeung(R S) J Biol Chem 2001-07-19

Hamartin and tuberin are products of the tumor suppressor genes, TSC1 and TSC2, respectively. When mutated, a characteri...

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagno…

Bénit(P),Bonnefont(J P),Kara Mostefa(A),Fran… Prenat Diagn 2001-07-05

...TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially ...

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequence…

Longa(L),Saluto(A),Brusco(A),Polidoro(S),Pad… Hum Genet 2001-04-12

...TSC2. The breakpoint sequence of seven internal deletions, three in TSC1 and four in TSC2, allowed us to speculate on th...

Hamartin and tuberin expression in human tissues.

Johnson(M W),Kerfoot(C),Bushnell(T),Li(M),Vi… Mod Pathol 2001-05-17

...TSC2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin...

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