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Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic gli…

Parry(L),Maynard(J H),Patel(A),Hodges(A K),v… Hum Genet 2001-01-04

Reduced expression of the TSC2 tumour suppressor gene product, tuberin, has been reported in sporadic astrocytomas, sugg...

Cloning and characterization of the breakpoint regions of a chromosome 11;18 tr…

Kutsche(K),Glauner(E),Knauf(S),Pomarino(A),S… Cytogenet Cell Genet 2001-03-29

...TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor r...

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple con…

Brown(J),Horsley(S W),Jung(C),Saracoglu(K),J… Eur J Hum Genet 2001-02-22

...TSC2. This and further FISH deletion mapping studies revealed a submicroscopic deletion encompassing the entire TSC2 gen...

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth an…

Benvenuto(G),Li(S),Brown(S J),Braverman(R),V… Oncogene 2001-03-22

...TSC2) gene, tuberin. As overexpression of tuberin inhibits cell growth, and hamartin is known to bind tuberin, these res...

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive…

Roberts(P S),Jozwiak(S),Kwiatkowski(D J),Dab… J Biochem Biophys Methods 2001-05-21

...TSC2) and together account for all cases [1,2]. Here we report our methods for DHPLC analysis of the TSC1 gene and demon...

LD-PCR coupled to long-read direct sequencing: an approach for mutation detecti…

Fleming(N),Maynard(J),Tzitzis(L),Sampson(J R… J Biochem Biophys Methods 2001-05-21

...TSC2 gene. In a blind analysis, 15/15 previously characterised mutations were successfully identified using seven overla...

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...

The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and…

Strizheva(G D),Carsillo(T),Kruger(W D),Sulli… Am J Respir Crit Care Med 2001-05-31

...TSC2 gene mutation and the risk of developing LAM. We examined all 41 exons of the TSC2 gene and 21 coding exons of the ...

Current advances in molecular genetics of autosomal-dominant polycystic kidney …

Wu(G) Curr Opin Nephrol Hypertens 2001-03-08

...TSC2 syndrome phenotypes and the data from Krd mice imply that TSC2 and PAX2 may also serve as potential modifiers for t...

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