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scopus: 7004971797

Zdzienicka, M.Z.

(Malgorzata Zdzienicka)


artemi mutation patient recombination repair dna-pkc protein m 3 cells broblast analysis fi broblasts defect end-joining fibroblast coding assay ficient number microhomology activity irradiation sensitivity artemis-de ficient cells rag 1 microhomology use rs-scid radiation aberration artemis gene mutations kinase wild-type formation cell cycle result ligase ficiency figure cell lines v 3 cells level control artemis-de sequence cycle artemis gene chromosomal dsb repair dna ligase iv signal expression immunode ficiency table checkpoint experiment immunol product pathway research radiosensitive chromosome van gent coding joints chromosomal aberrations precursor frequency dna-pk damage double-strand patient id 177 x-rays junction volume rs-scid patients dna double-strand blood immunode fragment stage artemis protein substrate




6 Most Recent Publications

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
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
Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle (Article)
Darroudi, F. Wiegant, W.W. Meijers, M. Friedl, A.A. Burg, M. van der Fomina, J. Dongen, J.J.M. van Gent, D.C. van Zdzienicka, M.Z.
2007-02-03
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation (Article)
Burg, M. van der Zdzienicka, M.Z. Raams, A. Jaspers, N.G.J. Gent, D.C. van Dongen, J.J.M. van Veelen, L.R. van Verkaik, N.S. Wiegant, W.W. Hartwig, N.G. Barendregt, B.H. Brugmans, L.J.L.
2006-01-01
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow (Article)
Noordzij, J.G. Zdzienicka, M.Z. Weemaes, C.M. Groot, R. de Dongen, J.J.M. van Gent, D.C. van Verkaik, N.S. Burg, M. van der Veelen, L.R. van Bruin-Versteeg, S. de Wiegant, W. Vossen, J.M.J.J.
2003-01-01
Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells. (Article)
Verkaik, N.S. Esveldt-van Lange, R. Heemst, D. van Brüggenwirth, H.T. Hoeijmakers, J.H.J. Zdzienicka, M.Z. Gent, D.C. van
2002-01-01