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patient artemi 4*02 mutation control number protein recombination dna-pkc m 3 cells figure expression ficiency b cells defect transcript activity b-cell analysis level bag 1 repair blood erythroblast csde 1 translation t-cell rps 19 fibroblast t cells immunol sequence kinase 6*02 3*02 coding 3-23*01 4-34*01 rag 1 erasmus mc differentiation patient 2 result v 3 cells immunode proliferation immunode ficiency junction table 3-22*01 assay memory subset erythroid wild-type rpl 11 precursor b cells patient 1 1-26*01 immunoglobulin immunodeficiency 6-13*01 volume end-joining 5*02 broblast wt artemis transcripts nucleotide precursor speci sensitivity scid h ijspeert 3-10*01 shrna 6-19*01 receptor 4-59*01 liver irradiation fi broblasts
6 Most Recent Publications
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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity
(Article)
Driessen, G.J.A. IJspeert, H. Zelm, M.C. van Dongen, J.J.M. van Deuren, M. van Burger, C.W. Weemaes, C.M.R. Haraldsson, A. Trip, M. Warris, A. Flier, M. van der Wulffraat, N.M. Verhagen, M.M.M. Taylor, M.A. |
2013-04-08
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Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts
(Article)
Horos, R. IJspeert, H. Pospisilova, D. Sendtner, R. Andrieu-Soler, C. Taskesen, E. Nieradka, A. Cmejla, R. Touw, I.P. Lindern, M.M. von |
2012-01-05
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Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide
(Article)
IJspeert, H. Lankester, A.C. Dongen, J.J.M. van Gent, D.C. van Burg, M. van der Berg, J.M. van den Wiegant, W.W. Zelm, M.C. van Weemaes, C.M.R. Warris, A. Pan-Hammarström, Q. Pastink, A. Tol, M.J.D. van |
2011-09-01
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Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations
(Article)
Kuijpers, T.W. IJspeert, H. Van Leeuwen, E.M.M. Jansen, M.H. Hazenberg, M.D. Weijer, K. Van Lier, R.A.W. Burg, M. van der |
2011-06-02
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A novel radiosensitive SCID patient with a pronounced G2/M sensitivity
(Article)
Wiegant, W.W. Meyers, M. Vreeken, C. IJspeert, H. Esveldt-van Lange, R.E.E. Friedl, A.A. Villartay, J.P. de Mullenders, L.H.F. Dongen, J.J.M. van Gent, D.C. van Pastink, A. Zdzienicka, M.Z. Verkaik, N.S. Burg, M. van der Darroudi, F. Romeijn, R. Bernatowska, E. Wolska-Kusnierz, B. Mikoluc, B. Jaspers, N.G.J. |
2010-04-04
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A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining
(Article)
Burg, M. van der IJspeert, H. Dongen, J.J.M. van Gent, D.C. van Verkaik, N.S. Turul, T. Wiegant, W.W. Morotomi-Yano, K. Mari, P.O. Tezcan, I. Chen, D.J. Zdzienicka, M.Z. |
2009-01-05
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