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Items: 1 to 20 of 182

1.

Generation of a conditional disruption of the Tsc2 gene.

Hernandez O, Way S, McKenna J 3rd, Gambello MJ.

Genesis. 2007 Feb;45(2):101-6.

PMID:
17245776
2.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group.

Hum Mutat. 2005 Oct;26(4):374-83.

PMID:
16114042
3.

Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

Uhlmann EJ, Apicelli AJ, Baldwin RL, Burke SP, Bajenaru ML, Onda H, Kwiatkowski D, Gutmann DH.

Oncogene. 2002 Jun 6;21(25):4050-9.

4.

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.

Wilson C, Idziaszczyk S, Parry L, Guy C, Griffiths DF, Lazda E, Bayne RA, Smith AJ, Sampson JR, Cheadle JP.

Hum Mol Genet. 2005 Jul 1;14(13):1839-50. Epub 2005 May 11.

PMID:
15888477
5.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed M, Adriaans A, Wessels M, Maat-Kievit A, Baars M, Dommering C, van den Ouweland A, Halley D.

BMC Med Genet. 2008 Feb 26;9:10. doi: 10.1186/1471-2350-9-10.

6.

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice.

Kobayashi T, Minowa O, Sugitani Y, Takai S, Mitani H, Kobayashi E, Noda T, Hino O.

Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8762-7. Epub 2001 Jul 3.

7.

A defect in protein farnesylation suppresses a loss of Schizosaccharomyces pombe tsc2+, a homolog of the human gene predisposing to tuberous sclerosis complex.

Nakase Y, Fukuda K, Chikashige Y, Tsutsumi C, Morita D, Kawamoto S, Ohnuki M, Hiraoka Y, Matsumoto T.

Genetics. 2006 Jun;173(2):569-78. Epub 2006 Apr 19. Erratum in: Genetics. 2006 Aug;173(4):2419.

8.

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Rok P, Kasprzyk-Obara J, Domańska-Pakieła D, Jóźwiak S.

Med Sci Monit. 2005 May;11(5):CR230-234. Epub 2005 Apr 28.

PMID:
15874888
9.

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A.

Eur J Hum Genet. 2005 Jun;13(6):731-41.

10.

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Choi JE, Chae JH, Hwang YS, Kim KJ.

Brain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.

PMID:
16554133
11.

Tuberous sclerosis complex: molecular pathogenesis and animal models.

Piedimonte LR, Wailes IK, Weiner HL.

Neurosurg Focus. 2006 Jan 15;20(1):E4. Review. Retraction in: Jane JA Sr. Neurosurg Focus. 2006;21(1):e17.

PMID:
16459994
12.

The tuberous sclerosis genes, TSC1 and TSC2, trigger different gene expression responses.

Rosner M, Freilinger A, Lubec G, Hengstschläger M.

Int J Oncol. 2005 Nov;27(5):1411-24.

PMID:
16211238
13.

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
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. Epub 2001 Jul 20.

15.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.

BMC Med Genet. 2006 Sep 18;7:72.

16.

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ.

Hum Genet. 2007 May;121(3-4):389-400. Epub 2007 Feb 8.

PMID:
17287951
17.

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.

Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL.

Nat Neurosci. 2005 Dec;8(12):1727-34. Epub 2005 Nov 6.

PMID:
16286931
18.

Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain.

Govindarajan B, Brat DJ, Csete M, Martin WD, Murad E, Litani K, Cohen C, Cerimele F, Nunnelley M, Lefkove B, Yamamoto T, Lee C, Arbiser JL.

J Biol Chem. 2005 Feb 18;280(7):5870-4. Epub 2004 Dec 2.

20.

[From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex].

Verhoef S, Lindhout D, Halley DJ, van den Ouweland AM.

Ned Tijdschr Geneeskd. 2001 Oct 6;145(40):1928-30. Review. Dutch.

PMID:
11675974

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