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A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
Published in:
2009
By:
- van der Burg, Mirjam;
- IJspeert, Hanna;
- Verkaik, Nicole S.;
- Turul, Tuba;
- Wiegant, Wouter W.;
- Morotomi-Yano, Keiko;
- Mari, Pierre-Olivier;
- Tezcan, Ilhan;
- Chen, David J.;
- Zdzienicka, Malgorzata Z.;
- van Dongen, Jacques J. M.;
- van Gent, Dik C.
Publication type:
journal article
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
Published in:
2006
By:
- van der Burg, Mirjam;
- van Veelen, Lieneke R.;
- Verkaik, Nicole S.;
- Wiegant, Wouter W.;
- Hartwig, Nico G.;
- Barendregt, Barbara H.;
- Brugmans, Linda;
- Raams, Anja;
- Jaspers, Nicolaas G. J.;
- Zdzienicka, Malgorzata Z.;
- M .van Dongen, Jacques J;
- van Gent, Dik C.;
- van Dongen, Jacques J M
Publication type:
journal article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Published in:
2005
By:
- Levitus, Marieke;
- Waisfisz, Quinten;
- Godthelp, Barbara C.;
- Vries, Yne de;
- Hussain, Shobbir;
- Wiegant, Wouter W.;
- Elghalbzouri-Maghrani, Elhaam;
- Steltenpool, Jûrgen;
- Rooimans, Martin A.;
- Pals, Gerard;
- Arwert, Fré;
- Mathew, Christopher G.;
- Zdzienicka, Małgorzata Z.;
- Hiom, Kevin;
- de Winter, Johan P.;
- Joenje, Hans
Publication type:
Letter
FANCD1/BRCA2 Plays Predominant Role in the Repair of DNA Damage Induced by ACNU or TMZ.
Published in:
PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019659
By:
- Kondo, Natsuko;
- Takahashi, Akihisa;
- Mori, Eiichiro;
- Noda, Taichi;
- Zdzienicka, Malgorzata Z.;
- Thompson, Larry H.;
- Helleday, Thomas;
- Suzuki, Minoru;
- Kinashi, Yuko;
- Masunaga, Shinichiro;
- Ono, Koji;
- Hasegawa, Masatoshi;
- Ohnishi, Takeo
Publication type:
Article
Telomerase suppression by chromosome 6 in a human papillomavirus type 16-immortalized keratinocyte cell line and in a cervical cancer cell line.
Published in:
2001
By:
- Steenbergen, Renske D.M.;
- Kramer, Debbie;
- Meijer, Chris J.L.;
- Walboomers, Jan M.M.;
- Trott, Deborah A.;
- Cuthbert, Andrew P.;
- Newbold, Robert F.;
- Overkamp, Wilhelmina J.I.;
- Zdzienicka, Malgorzata Z.;
- Snijders, Peter J.F.;
- Steenbergen, R D;
- Kramer, D;
- Meijer, C J;
- Walboomers, J M;
- Trott, D A;
- Cuthbert, A P;
- Newbold, R F;
- Overkamp, W J;
- Zdzienicka, M Z;
- Snijders, P J
Publication type:
journal article
Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1.
Published in:
Oncogene, 2002, v. 21, n. 32, p. 5002, doi. 10.1038/sj.onc.1205656
By:
- Godthelp, Barbara C.;
- Artwert, Fre;
- Joenje, Hans;
- Zdzienicka, Malgorzata Z.
Publication type:
Article
Characterization of the mutational profile of (+)-7R,8S-dihydroxy-9S,10R-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene at the hypoxanthine (guanine) phosphoribosyltransferase gene in repair-deficient Chinese hamster V-H1 cells.
Published in:
Carcinogenesis, 1999, v. 20, n. 12, p. 2279, doi. 10.1093/carcin/20.12.2279
By:
- Schiltz, Maria;
- Cui, Xiao Xing;
- Lu, Yao-Ping;
- Yagi, Haruhiko;
- Jerina, Donald M.;
- Zdzienicka, Malgorzata Z.;
- Chang, Richard L.;
- Conney, Allan H.;
- Wei, S.-J.Caroline
Publication type:
Article
A single amino acid substitution in DNA‐PKcs explains the novel phenotype of the CHO mutant, XR‐C2.
Published in:
Nucleic Acids Research, 2002, v. 30, n. 23, p. 5120, doi. 10.1093/nar/gkf625
By:
- Woods, Timothy;
- Wang, Wei;
- Convery, Erin;
- Errami, Abdellatif;
- Zdzienicka, Malgorzata Z.;
- Meek, Katheryn
Publication type:
Article
XR‐C1, a new CHO cell mutant which is defective in DNA‐PKcs, is impaired in both V(D)J coding and signal joint formation.
Published in:
Nucleic Acids Research, 1998, v. 26, n. 13, p. 3146, doi. 10.1093/nar/26.13.3146
By:
- Errami, Abdellatif;
- He, Dong Ming;
- Friedl, Anna A.;
- Overkamp, Wilhelmina J. I.;
- Morolli, Bruno;
- Hendrickson, Eric A.;
- Eckardt‐Schupp, Friederike;
- Oshimura, Mitsuo;
- Lohman, Paul H. M.;
- Jackson, Stephen P.;
- Zdzienicka, Malgorzata Z.
Publication type:
Article
Mutations in hamster single‐strand break repair gene XRCC1 causing defective DNA repair.
Published in:
Nucleic Acids Research, 1998, v. 26, n. 4, p. 1032, doi. 10.1093/nar/26.4.1032
By:
- Shen, M. Richard;
- Zdzienicka, Malgorzata Z.;
- Mohrenweiser, Harvey;
- Thompson, Larry H.;
- Thelen, Michael P.
Publication type:
Article
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.
Published in:
BMC Genetics, 2006, v. 7, p. 1
By:
- S^van^der^Heijden, Michiel;
- Brody, Jonathan R;
- Elghalbzouri- Maghrani, Elhaam;
- Zdzienicka, Malgorzata Z;
- Kern, Scott E
Publication type:
Article
Rola białek szlaku niedokrwistości Fanconiego w naprawie DNA i utrzymaniu stabilności genomu.
Published in:
Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2014, v. 68, p. 459, doi. 10.5604/17322693.1101567
By:
- Koczorowska, Aleksandra M.;
- Białkowska, Aneta;
- Kluzek, Katarzyna;
- Zdzienicka, Małgorzata Z.
Publication type:
Article
Inhibitory polimerazy poli(ADP-rybozy) (PARP) w terapii nowotworów z mutacjami BRCA1/2.
Published in:
Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2012, v. 66, p. 372, doi. 10.5604/17322693.1000548
By:
- Kluzek, Katarzyna;
- Białkowska, Aneta;
- Koczorowska, Aleksandra;
- Zdzienicka, Małgorzata Z.
Publication type:
Article
Distinct cellular phenotype linked to defective DNA interstrand crosslink repair and homologous recombination.
Published in:
Molecular Medicine Reports, 2017, v. 16, n. 2, p. 1885, doi. 10.3892/mmr.2017.6781
By:
- GORNIEWSKA, ALEKSANDRA M.;
- KLUZEK, KATARZYNA;
- GACKOWSKA, LIDIA;
- KUBISZEWSKA, IZABELA;
- ZDZIENICKA, MALGORZATA Z.;
- BIALKOWSKA, ANETA
Publication type:
Article
Brca2 (XRCC11) deficiency results in enhanced mutagenesis.
Published in:
Mutagenesis, 2003, v. 18, n. 6, p. 521, doi. 10.1093/mutage/geg032
By:
- Maria Kraakman-van der Zwet;
- Wouter W. Wiegant;
- Małgorzata Z. Zdzienicka
Publication type:
Article
Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.
Published in:
Mutagenesis, 2000, v. 15, n. 3, p. 281, doi. 10.1093/mutage/15.3.281
By:
- Cerosaletti, Karen M.;
- Desai-Mehta, Ami;
- Tiong Chia Yeo;
- Kraakman-van der Zwet, Maria;
- Zdzienicka, Malgorzata Z.;
- Concannon, Patrick
Publication type:
Article
Synthetic lethal targeting of DNA double-strand break repair deficient cells by human apurinic/apyrimidinic endonuclease inhibitors.
Published in:
International Journal of Cancer, 2012, v. 131, n. 10, p. 2433, doi. 10.1002/ijc.27512
By:
- Sultana, Rebeka;
- McNeill, Daniel R.;
- Abbotts, Rachel;
- Mohammed, Mohammed Z.;
- Zdzienicka, Malgorzata Z.;
- Qutob, Haitham;
- Seedhouse, Claire;
- Laughton, Charles A.;
- Fischer, Peter M.;
- Patel, Poulam M.;
- Wilson, David M.;
- Madhusudan, Srinivasan
Publication type:
Article
Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells.
Published in:
European Journal of Immunology, 2002, v. 32, n. 3, p. 701, doi. 10.1002/1521-4141(200203)32:3<701::AID-IMMU701>3.0.CO;2-T
By:
- Verkaik, Nicole S.;
- Esveldt-van Lange, Rebecca E. E.;
- Heemst, Diana van;
- Brüggenwirth, Hennie T.;
- Hoeijmakers, Jan H. J.;
- Zdzienicka, Malgorzata Z.;
- Gent, Dik C. van
Publication type:
Article

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