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Items: 1 to 20 of 71

1.

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members.

Henry KW, Yuan X, Koszewski NJ, Onda H, Kwiatkowski DJ, Noonan DJ.

J Biol Chem. 1998 Aug 7;273(32):20535-9.

3.
4.

Ets protein Elf-1 bidirectionally suppresses transcriptional activities of the tumor suppressor Tsc2 gene and the repair-related Nth1 gene.

Honda S, Kobayashi T, Kajino K, Urakami S, Igawa M, Hino O.

Mol Carcinog. 2003 Jul;37(3):122-9.

PMID:
12884363
5.

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.

6.

The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner.

Lou D, Griffith N, Noonan DJ.

Mol Cell Biol Res Commun. 2001 Nov;4(6):374-80.

PMID:
11703097
7.

TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.

Sampson JR.

Biochem Soc Trans. 2003 Jun;31(Pt 3):592-6.

PMID:
12773162
8.

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.

9.

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S, Kumar A.

Acta Neurol Scand. 2005 Jan;111(1):54-63.

PMID:
15595939
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.

Tuberous sclerosis genes regulate cellular 14-3-3 protein levels.

Hengstschläger M, Rosner M, Fountoulakis M, Lubec G.

Biochem Biophys Res Commun. 2003 Dec 19;312(3):676-83.

PMID:
14680818
12.

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.

Kobayashi T, Urakami S, Cheadle JP, Aspinwall R, Harris P, Sampson JR, Hino O.

Mamm Genome. 1997 Aug;8(8):554-8.

PMID:
9250859
13.

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.

14.

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V.

Am J Hum Genet. 2001 Sep;69(3):493-503.

15.

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

Au KS, Williams AT, Gambello MJ, Northrup H.

J Child Neurol. 2004 Sep;19(9):699-709. Review.

PMID:
15563017
16.

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
17.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.

Am J Hum Genet. 2001 Jan;68(1):64-80.

18.

Use of Saccharomyces cerevisiae in the identification of novel transcription factor DNA binding specificities.

Henry KW 2nd, Carey B, Howard WR, Hoefner D, Noonan DJ.

Yeast. 2001 Mar 30;18(5):445-54.

19.

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

Plank TL, Logginidou H, Klein-Szanto A, Henske EP.

Mod Pathol. 1999 May;12(5):539-45.

PMID:
10349994
20.
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