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variant tsc 1 tsc 1 variants tsc 2 variants substitution wild-type wild-type tsc 1 signal change analysis tsc 2 mutation wild-type tsc 1–tsc acid substitutions figure t 389/s ratio sclerosis tuberou protein effect l 117p variants tsc 1 function nellist tuberous sclerosis 1–tsc function l 50p assessment ratio region missense tsc 2 lovd genetic 389/ phosphorylation study assay van den ouweland activity genet page number table prediction level citation purposes l 50p variant individual t 389/s ratios n-terminal result nellist m presence expression database acid changes protein function -132 n-terminal region tsc 1-tsc chromosome mg -132 treatment localisation tsc 2 gene halley wild-type control control tsc 1–tsc ouweland hydrophobicity transfection department 1-tsc number cytoplasmic localisation purpose citation value 6k signals tsc 2 signal t 389-phosphorylated
2 Most Recent Publications
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
(Article)
Mozaffari, E. Hoogeveen-Westerveld, M. Kwiatkowski, D. Sampson, J. Ekong, R. Povey, S. Dunnen, J.T. den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M.D. |
2009-09-11
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