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[The results of recent research in neurocutaneous syndromes].

Ohno(K) No To Hattatsu 1998-04-27

Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests t...

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p1…

Smolarek(T A),Wessner(L L),McCormack(F X),My… Am J Hum Genet 1998-06-10

...TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. We also found TSC2 LOH in fo...

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patient…

Au(K S),Rodriguez(J A),Finch(J L),Volcik(K A… Am J Hum Genet 1998-04-06

...TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we identified...

Tuberin immunohistochemistry in brain, kidneys and heart with or without tubero…

Mizuguchi(M),Kato(M),Yamanouchi(H),Ikeda(K),… Acta Neuropathol 1998-02-20

...TSC2 gene, in cerebral, renal and cardiac tissues obtained from patients with tuberous sclerosis and from control patien...

Polymorphism in the 5' flanking region of the human somatostatin receptor subty…

Sasi(R),Puebla(L),Khare(S),Patel(Y C) Gene 1998-08-31

...TSC2). Analysis of the 5' flanking region of the hSSTR5 gene has revealed consensus sequences for a number of transcript...

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid h…

Henry(K W),Yuan(X),Koszewski(N J),Onda(H),Kw… J Biol Chem 1998-09-10

...TSC2) for both loci have recently been cloned, their function remains an enigma. Data presented here demonstrates that T...

Redistribution and enhanced protein kinase C-mediated phosphorylation of alpha-…

Fowler(L),Everitt(J),Stevens(J L),Jaken(S) Cell Growth Differ 1998-08-05

...TSC2 gene that predisposes them to renal carcinoma, whereas additional factors influence tumor promotion/progression in ...

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and p…

Torra(R),Badenas(C),Darnell(A),Camacho(J A),… Am J Kidney Dis 1998-07-02

...TSC2. We suggest that an additive or synergistic effect between PKD1 and TSC2 may cause this renal phenotype. A contiguo...

Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence…

Martignoni(G),Pea(M),Bonetti(F),Zamboni(G),C… Am J Surg Pathol 1998-06-30

...TSC2-containing region on 16p in one case, and on 3p in two cases, showing that multiple genetic alterations are taking ...

Biallelic mutations of the Tsc2 gene in chemically induced rat renal cell carci…

Satake(N),Urakami(S),Hirayama(Y),Izumi(K),Hi… Int J Cancer 1998-09-14

...TSC2) predisposing gene in the Eker rat model. In this study, we searched for mutations of the Tsc2 gene in chemically i...

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