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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...

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...

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 ...

Developmental expression of the tuberous sclerosis proteins tuberin and hamarti…

Murthy(V),Stemmer-Rachamimov(A O),Haddad(L A… Acta Neuropathol 2001-08-30

...TSC2, encode hamartin and tuberin, respectively. Employing specific antibodies for hamartin and tuberin, we analyzed the...

Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and…

Catania(M G),Mischel(P S),Vinters(H V) J Neuropathol Exp Neurol 2001-07-19

...TSC2, which encode hamartin and tuberin, respectively. The functions of these proteins have yet to be determined. Recent...

Mutational analysis of TSC1 and TSC2 genes in gangliogliomas.

Becker(A J),Löbach(M),Klein(H),Normann(S),Nö… Neuropathol Appl Neurobiol 2001-08-16

...TSC2 was studied in 20 patients with gangliogliomas. Fifteen of these tumours (75%) carried polymorphisms in the TSC2 ge...

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that…

Kobayashi(T),Minowa(O),Sugitani(Y),Takai(S),… Proc Natl Acad Sci U S A 2001-08-30

...TSC2 tumor suppressor genes. From the symptomatic resemblance among TS patients, involvement of TSC1 and TSC2 products i...

The Drosophila tuberous sclerosis complex gene homologs restrict cell growth an…

Tapon(N),Ito(N),Dickson(B J),Treisman(J E),H… Cell 2001-05-31

...TSC2. We have characterized mutations in the Drosophila Tsc1 and Tsc2/gigas genes. Inactivating mutations in either gene...

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