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Molecular genetic advances in tuberous sclerosis.

Cheadle(J P),Reeve(M P),Sampson(J R),Kwiatko… Hum Genet 2000-10-27

...TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products h...

Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres: a n…

Folpe(A L),Goodman(Z D),Ishak(K G),Paulino(A… Am J Surg Pathol 2000-09-14

...TSC2 gene product, tuberin, was seen in three cases. One case studied cytogenetically disclosed a t(3;10). Follow-up dat...

Mapping and determination of the cDNA sequence of the Erc gene preferentially e…

Yamashita(Y),Yokoyama(M),Kobayashi(E),Takai(… Biochem Biophys Res Commun 2000-09-21

The Eker rat develops hereditary renal carcinomas (RCs) due to two hit mutations of the tumor suppressor gene, Tsc2. We ...

Promotion by sodium barbital induces early development but does not increase th…

Wolf(D C),Goldsworthy(T L),Janszen(D B),Hard… Carcinogenesis 2000-08-23

Induced cell proliferation is important in the mode of action of many non-genotoxic renal carcinogens. Since Tsc2 mutant...

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytoso…

Nellist(M),van Slegtenhorst(M A),Goedbloed(M… J Biol Chem 2000-01-13

...TSC2 gene are responsible for the disease. The TSC1 gene encodes hamartin, a 130-kDa protein without significant homolog...

[Current aspects of lymphangioleiomyomatosis].

Lacronique(J),Urban(T) Rev Pneumol Clin 2000-01-27

...TSC2 (16p 13.3). The TSC2 locus could be implicated in the pathogenesis of pulmonary LAM. LAM and BTS have similar clini...

Loss of heterozygosity is detected at chromosomes 1p35-36 (NB), 3p25 (VHL), 16p…

Lininger(R A),Zhuang(Z),Man(Y),Park(W S),Emm… Mod Pathol 2000-01-10

...TSC2/PKD1 gene region), 17p13 (TP53), 17q13 (NM23), and 22q12 (D22S683).,Among informative in situ and invasive apocrine...

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese…

Yamashita(Y),Ono(J),Okada(S),Wataya-Kaneda(M… Am J Med Genet 2000-03-15

...TSC2 genes, using single-strand conformational polymorphism analysis and direct sequencing. Four possible pathogenic mut...

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmon…

Astrinidis(A),Khare(L),Carsillo(T),Smolarek(… J Med Genet 2000-02-18

...TSC2. Twelve of the patients had known renal angiomyolipomas. No TSC2 mutations were detected. We did find three silent ...

Similarities and differences in the subcellular localization of hamartin and tu…

Murthy(V),Haddad(L A),Smith(N),Pinney(D),Tys… Am J Physiol Renal Physiol 2000-06-12

...TSC2 genes, coding hamartin and tuberin, respectively. Immunofluorescence analysis of tuberin and hamartin performed her...

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