Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
- PMID: 15121792
- PMCID: PMC1735780
- DOI: 10.1136/jmg.2003.010835
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
Similar articles
-
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.Hum Mol Genet. 1997 Oct;6(11):1991-6. doi: 10.1093/hmg/6.11.1991. Hum Mol Genet. 1997. PMID: 9302281
-
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.Hum Mutat. 1998;Suppl 1:S85-7. doi: 10.1002/humu.1380110129. Hum Mutat. 1998. PMID: 9452050 No abstract available.
-
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.J Med Genet. 2001 May;38(5):347-9. doi: 10.1136/jmg.38.5.347. J Med Genet. 2001. PMID: 11403047 Free PMC article. No abstract available.
-
Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins.Biochem Soc Trans. 2003 Jun;31(Pt 3):587-91. doi: 10.1042/bst0310587. Biochem Soc Trans. 2003. PMID: 12773161 Review.
-
The genetic basis of tuberous sclerosis.Mol Med Today. 1998 Jul;4(7):313-9. doi: 10.1016/s1357-4310(98)01245-3. Mol Med Today. 1998. PMID: 9743993 Review.
Cited by
-
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Eur J Hum Genet. 2012 May;20(5):510-5. doi: 10.1038/ejhg.2011.241. Epub 2011 Dec 21. Eur J Hum Genet. 2012. PMID: 22189265 Free PMC article.
-
Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway.Neuromolecular Med. 2005;7(4):287-96. doi: 10.1385/NMM:7:4:287. Neuromolecular Med. 2005. PMID: 16391386 Review.
-
Molecular mechanism of regulation of OGG1: tuberin deficiency results in cytoplasmic redistribution of transcriptional factor NF-YA.J Mol Signal. 2009 Dec 29;4:8. doi: 10.1186/1750-2187-4-8. J Mol Signal. 2009. PMID: 20040097 Free PMC article.
-
Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges.Childs Nerv Syst. 2010 Nov;26(11):1495-504. doi: 10.1007/s00381-010-1128-8. Epub 2010 Apr 1. Childs Nerv Syst. 2010. PMID: 20358377 Review.
-
Evidence for population variation in TSC1 and TSC2 gene expression.BMC Med Genet. 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29. BMC Med Genet. 2011. PMID: 21345208 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous