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Items: 1 to 20 of 376

1.

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR.

Hum Mol Genet. 1997 Oct;6(11):1991-6.

PMID:
9302281
2.

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.

Xiao GH, Shoarinejad F, Jin F, Golemis EA, Yeung RS.

J Biol Chem. 1997 Mar 7;272(10):6097-100.

3.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.

Am J Hum Genet. 1999 May;64(5):1305-15. Review.

4.

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

Maheshwar MM, Sandford R, Nellist M, Cheadle JP, Sgotto B, Vaudin M, Sampson JR.

Hum Mol Genet. 1996 Jan;5(1):131-7. Erratum in: Hum Mol Genet. 1996 Apr;5(4):562.

PMID:
8789450
5.

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L.

Hum Mutat. 1999;14(5):412-22.

PMID:
10533067
6.

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.

Wienecke R, König A, DeClue JE.

J Biol Chem. 1995 Jul 7;270(27):16409-14.

7.

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.

Hum Mol Genet. 1997 Nov;6(12):2155-61.

PMID:
9328481
8.

Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase.

Soucek T, Pusch O, Wienecke R, DeClue JE, Hengstschläger M.

J Biol Chem. 1997 Nov 14;272(46):29301-8.

9.

The molecular genetics of tuberous sclerosis.

Sampson JR, Harris PC.

Hum Mol Genet. 1994;3 Spec No:1477-80.

PMID:
7849741
10.

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V.

Hum Mutat. 1998;12(6):408-16.

PMID:
9829910
11.

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins.

Zhang Y, Gao X, Saucedo LJ, Ru B, Edgar BA, Pan D.

Nat Cell Biol. 2003 Jun;5(6):578-81.

PMID:
12771962
12.

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL.

Hum Mol Genet. 1996 Feb;5(2):249-56.

PMID:
8824881
13.

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

Yamashita Y, Ono J, Okada S, Wataya-Kaneda M, Yoshikawa K, Nishizawa M, Hirayama Y, Kobayashi E, Seyama K, Hino O.

Am J Med Genet. 2000 Jan 17;90(2):123-6.

PMID:
10607950
14.

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K.

Hum Mutat. 2004 Apr;23(4):397.

PMID:
15024740
16.

Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region.

Jin F, Wienecke R, Xiao GH, Maize JC Jr, DeClue JE, Yeung RS.

Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9154-9.

17.

Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis.

Aicher LD, Campbell JS, Yeung RS.

J Biol Chem. 2001 Jun 15;276(24):21017-21. Epub 2001 Apr 4.

18.

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.

Goedbloed MA, Nellist M, Verhaaf B, Reuser AJ, Lindhout D, Sunde L, Verhoef S, Halley DJ, van den Ouweland AM.

Eur J Hum Genet. 2001 Nov;9(11):823-8.

19.

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.

Mayer K, Goedbloed M, van Zijl K, Nellist M, Rott HD.

J Med Genet. 2004 May;41(5):e64. No abstract available.

20.

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE, Sampson JR.

Hum Mol Genet. 2001 Dec 1;10(25):2899-905.

PMID:
11741833

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