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Page 1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R, Arican S, Hoogeveen-Westerveld M, Simons E, van den Ouweland A, Halley D, Nellist M. Coevoets R, et al. Eur J Hum Genet. 2009 Mar;17(3):301-10. doi: 10.1038/ejhg.2008.184. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854862 Free PMC article.
Rheb is essential for murine development.
Goorden SM, Hoogeveen-Westerveld M, Cheng C, van Woerden GM, Mozaffari M, Post L, Duckers HJ, Nellist M, Elgersma Y. Goorden SM, et al. Mol Cell Biol. 2011 Apr;31(8):1672-8. doi: 10.1128/MCB.00985-10. Epub 2011 Feb 14. Mol Cell Biol. 2011. PMID: 21321084 Free PMC article.
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Wentink M, Nellist M, Hoogeveen-Westerveld M, Zonnenberg B, van der Kolk D, van Essen T, Park SM, Woods G, Cohn-Hokke P, Brussel W, Smeets E, Brooks A, Halley D, van den Ouweland A, Maat-Kievit A. Wentink M, et al. Clin Genet. 2012 May;81(5):453-61. doi: 10.1111/j.1399-0004.2011.01648.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332470
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17. Hum Mutat. 2012. PMID: 22161988
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.
Hoogeveen-Westerveld M, van Unen L, van den Ouweland A, Halley D, Hoogeveen A, Nellist M. Hoogeveen-Westerveld M, et al. BMC Biochem. 2012 Sep 24;13:18. doi: 10.1186/1471-2091-13-18. BMC Biochem. 2012. PMID: 23006675 Free PMC article.
60 results