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tuberin mutation hamartin y-str variant protein tsc 1 analysis number marker study phosphorylation change mutation rates expression population substitution wild-type mutation rate ancestry binding gst -14-3-3 beads interaction kidney model american locus sample figure family autosomal genetic chromosome tsc 2 european genet argentinean father function tsc 2 variants tuberou disease fraction sequence lysate wild-type tsc 1 sclerosis polycystic kidney disease effect result pattern activity beads patient chaperone function index case tuberin-hamartin antibody table individual tuberinhamartin r 905q variants wild-type tuberin motif y-str mutation rates tuberous sclerosis -14-3-3 university yfiler acid substitutions experiment chaperone presence tsc 2 gene tsc 1 variants v 769e variants arpkd 14-3-3 6 phosphorylation y-str loci
9 Most Recent Publications
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Mutability of Y-chromosomal microsatellites: Rates, characteristics, molecular bases, and rorensic implications
(Article)
Ballantyne, K. Goedbloed, M.A. Decorte, R. Poetsch, M. Wurmb-Schwark, N. von Knijff, P. de Labuda, D. Vézina, H. Knoblauch, H. Lessig, R. Roewer, L. Ploski, R. Fang, R.N. Dobosz, T. Henke, J. Furtado, M.R. Kayser, M. Schaap, O. Lao, O. Wollstein, A. Choi, Y. Duijn, K. van Vermeulen, M. Brauer, S. |
2010-09-10
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Inferring continental ancestry of argentineans from autosomal, Y-chromosomal and mitochondrial DNA
(Article)
Corach, D. Lao, O. Knijff, P. de Kayser, M. Bobillo, C. Gaag, K. van der Zuniga, S.B. Vermeulen, M. Duijn, K. van Goedbloed, M.A. Vallone, P.M. Parson, W. |
2010-01-01
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Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpF lSTR® Yfiler® PCR amplification kit
(Article)
Goedbloed, M.A. Vermeulen, M. Lessig, R. Ploski, R. Dobosz, T. Henke, J. Furtado, M.R. Kayser, M. Fang, R.N. Lembring, M. Wollstein, A. Ballantyne, K. Lao, O. Brauer, S. Krüger, C. Roewer, L. |
2009-11-01
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex
(Article)
Nellist, M. Heuvel, D. van den Bartalini, G. Vierimaa, O. Penttinen, M. Ende, J. van den Ouweland, A.M.W. van den Halley, D. Schluep, D. Exalto, C. Goedbloed, M.A. Maat-Kievit, A.A. Essen, T. van Spaendonck-Zwarts, K.Y. van Jansen, F. Helderman, P. |
2009-01-01
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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
(Article)
Nellist, M. Sancak, O. Goedbloed, M.A. Adriaans, A. Wessels, M.W. Maat-Kievit, A.A. Baars, M. Dommering, C.J. Ouweland, A.M.W. van den Halley, D. |
2008-04-16
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Identification and characterization of the interaction between tuberin and 14-3-3zeta.
(Article)
Nellist, M.D. Goedbloed, M.A. Winter, C. de Verhaaf, B. Jankie, A. Reuser, A.J.J. Ouweland, A.M.W. van den Sluijs, P. van der Halley, D.J.J. |
2002-10-18
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TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
(Article)
Nellist, M.D. Verhaaf, B. Goedbloed, M.A. Reuser, A.J.J. Ouweland, A.M.W. van den Halley, D.J.J. |
2001-01-01
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New rat model that phenotypically resembles autosomal recessive polycystic kidney disease
(Article)
Nauta, J. Goedbloed, M.A. Herck, H.V. Hesselink, D.A. Visser, P. Willemsen, R. Dokkum, R.P.E. van Wright, C.J. Guay-Woodford, L.M. |
2000-01-01
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Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin
(Article)
Nellist, M.D. Slegtenhorst, M.A. van Ouweland, A.M.W. van den Halley, D.J.J. Sluijs, P. van der Goedbloed, M.A. |
1999-01-01
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