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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
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
Published in:
Nature Genetics, 2011, v. 43, n. 2, p. 138, doi. 10.1038/ng.751
By:
- Stoepker, Chantal;
- Hain, Karolina;
- Schuster, Beatrice;
- Hilhorst-Hofstee, Yvonne;
- Rooimans, Martin A.;
- Steltenpool, Jurgen;
- Oostra, Anneke B.;
- Eirich, Katharina;
- Korthof, Elisabeth T.;
- Nieuwint, Aggie W. M.;
- Jaspers, Nicolaas G. J.;
- Bettecken, Thomas;
- Joenje, Hans;
- Schindler, Detlev;
- Rouse, John;
- de Winter, Johan P.
Publication type:
Article
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Published in:
Nature Genetics, 2004, v. 36, n. 7, p. 714, doi. 10.1038/ng1387
By:
- Giglia-Mari, Giuseppina;
- Coin, Frederic;
- Ranish, Jeffrey A.;
- Hoogstraten, Deborah;
- Theil, Arjan;
- Wijgers, Nils;
- Jaspers, Nicolaas G. J.;
- Raams, Anja;
- Argentini, Manuela;
- van der Spek, P. J.;
- Botta, Elena;
- Stefanini, Miria;
- Egly, Jean-Marc;
- Aebersold, Ruedi;
- Hoeijmakers, Jan H. J.;
- Vermeulen, Wim
Publication type:
Article
First-trimester prenatal diagnosis of the nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant dna synthesis.
Published in:
Prenatal Diagnosis, 1990, v. 10, n. 10, p. 667, doi. 10.1002/pd.1970101006
By:
- Jaspers, Nicolaas G. J.;
- van der Kraan, Magna;
- Linssen, Peter C. M. L.;
- Maçek, Milan;
- Seemanová, Eva;
- Kleijer, Wim J.
Publication type:
Article
Attenuated XPC Expression Is Not Associated with Impaired DNA Repair in Bladder Cancer.
Published in:
PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0126029
By:
- Naipal, Kishan A. T.;
- Raams, Anja;
- Bruens, Serena T.;
- Brandsma, Inger;
- Verkaik, Nicole S.;
- Jaspers, Nicolaas G. J.;
- Hoeijmakers, Jan H. J.;
- van Leenders, Geert J. L. H.;
- Pothof, Joris;
- Kanaar, Roland;
- Boormans, Joost;
- van Gent, Dik C.
Publication type:
Article
The HhH domain of the human DNA repair protein XPF forms stable homodimers.
Published in:
Proteins, 2008, v. 70, n. 4, p. 1551, doi. 10.1002/prot.21635
By:
- Das, Devashish;
- Tripsianes, Konstantinos;
- Jaspers, Nicolaas G. J.;
- Hoeijmakers, Jan H. J.;
- Kaptein, Robert;
- Boelens, Rolf;
- Folkers, Gert E.
Publication type:
Article
MicroRNA-mediated gene silencing modulates the UV-induced DNA-damage response.
Published in:
EMBO Journal, 2009, v. 28, n. 14, p. 2090, doi. 10.1038/emboj.2009.156
By:
- Pothof, Joris;
- Verkaik, Nicole S.;
- van IJcken, Wilfred;
- Wiemer, Erik A. C.;
- Ta, Van T. B.;
- van der Horst, Gijsbertus T. J.;
- Jaspers, Nicolaas G. J.;
- van Gent, Dik C.;
- Hoeijmakers, Jan H. J.;
- Persengiev, Stephan P.
Publication type:
Article
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Published in:
Nature, 2006, v. 444, n. 7122, p. 1038, doi. 10.1038/nature05456
By:
- Niedernhofer, Laura J.;
- Garinis, George A.;
- Raams, Anja;
- Lalai, Astrid S.;
- Robinson, Andria Rasile;
- Appeldoorn, Esther;
- Odijk, Hanny;
- Oostendorp, Roos;
- Ahmad, Anwaar;
- van Leeuwen, Wibeke;
- Theil, Arjan F.;
- Vermeulen, Wim;
- van der Horst, Gijsbertus T. J.;
- Meinecke, Peter;
- Kleijer, Wim J.;
- Vijg, Jan;
- Jaspers, Nicolaas G. J.;
- Hoeijmakers, Jan H. J.
Publication type:
Article
Mapping of interaction domains between human repair proteins ERCC1 and XPF.
Published in:
Nucleic Acids Research, 1998, v. 26, n. 18, p. 4146, doi. 10.1093/nar/26.18.4146
By:
- de Laat, Wouter L.;
- Sijbers, Anneke M.;
- Odijk, Hanny;
- Jaspers, Nicolaas G. J.;
- Hoeijmakers, Jan H. J.
Publication type:
Article
Mutational Analysis of the Human Nucleotide Excision Repair Gene ERCC1.
Published in:
Nucleic Acids Research, 1996, v. 24, n. 17, p. 3370, doi. 10.1093/nar/24.17.3370
By:
- Sijbers, Anneke M.;
- van der Spek, Peter J.;
- Odijk, Hanny;
- van den Berg, Joke;
- van Duin, Marcel;
- Westerveld, Andries;
- Jaspers, Nicolaas G. J.;
- Bootsma, Dirk;
- Hoeijmakers, Jan H. J.
Publication type:
Article
Neurological symptoms and natural course of xeroderma pigmentosum.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 8, p. 1979, doi. 10.1093/brain/awn126
By:
- Anu Anttinen;
- Leena Koulu;
- Eeva Nikoskelainen;
- Raija Portin;
- Timo Kurki;
- Matti Erkinjuntti;
- Nicolaas G. J. Jaspers;
- Anja Raams;
- Michael H. L. Green;
- Alan R. Lehmann;
- Jonathan F. Wing;
- Colin F. Arlett;
- Reijo J. Marttila
Publication type:
Article
Ultraviolet-B-Induced Apoptosis and Cytokine Release in Xeroderma Pigmentosum Keratinocytes.
Published in:
Journal of Investigative Dermatology, 2000, v. 115, n. 4, p. 687, doi. 10.1046/j.1523-1747.2000.00093.x
By:
- Petit-Frère, Corinne;
- Capulas, Emily;
- Lowe, Jillian E.;
- Koulu, Leena;
- Marttila, Reijo J.;
- Jaspers, Nicolaas G. J.;
- Clingen, Peter H.;
- Green, Michael H. L.;
- Arlett, Colin F.
Publication type:
Article
Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late...
Published in:
Journal of Investigative Dermatology, 1998, v. 110, n. 5, p. 832, doi. 10.1046/j.1523-1747.1998.00171.x
By:
- Sijbers, Anneke M.;
- va, Pieter C.;
- Vader, n Voorst;
- Snoek, Jos W.;
- Raams, Anja;
- Jaspers, Nicolaas G. J.;
- Kleijer, Wim J.
Publication type:
Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351
By:
- Theil, Arjan F.;
- Mandemaker, Imke K.;
- van den Akker, Emile;
- Swagemakers, Sigrid M. A.;
- Raams, Anja;
- Wüst, Tatjana;
- Marteijn, Jurgen A.;
- Giltay, Jacques C.;
- Colombijn, Richard M.;
- Moog, Ute;
- Kotzaeridou, Urania;
- Ghazvini, Mehrnaz;
- von Lindern, Marieke;
- Hoeijmakers, Jan H. J.;
- Jaspers, Nicolaas G. J.;
- van der Spek, Peter J.;
- Vermeulen, Wim
Publication type:
Article
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
Published in:
Journal of Dermatology, 2012, v. 39, n. 12, p. 1016, doi. 10.1111/j.1346-8138.2012.01662.x
By:
- Pehlivan, Davut;
- Cefle, Kivanc;
- Raams, Anja;
- Ozturk, Sukru;
- Baykal, Can;
- Kleijer, Wim J.;
- Palanduz, Sukru;
- Jaspers, Nicolaas G. J.
Publication type:
Article
Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency.
Published in:
PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004686
By:
- Barnhoorn, Sander;
- Uittenboogaard, Lieneke M.;
- Jaarsma, Dick;
- Vermeij, Wilbert P.;
- Tresini, Maria;
- Weymaere, Michael;
- Menoni, Hervé;
- Brandt, Renata M. C.;
- de Waard, Monique C.;
- Botter, Sander M.;
- Sarker, Altaf H.;
- Jaspers, Nicolaas G. J.;
- van der Horst, Gijsbertus T. J.;
- Cooper, Priscilla K.;
- Hoeijmakers, Jan H. J.;
- van der Pluijm, Ingrid
Publication type:
Article
Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients.
Published in:
PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000871
By:
- Ahmad, Anwaar;
- Enzlin, Jacqueline H.;
- Bhagwat, Nikhil R.;
- Wijgers, Nils;
- Raams, Anja;
- Appledoorn, Esther;
- Theil, Arjan F.;
- Hoeijmakers, Jan H. J.;
- Vermeulen, Wim;
- Jaspers, Nicolaas G. J.;
- Schärer, Orlando D.;
- Niedernhofer, Laura J.
Publication type:
Article
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1133, doi. 10.1002/pd.1849
By:
- Kleijer, Wim J.;
- van der Sterre, Marianne L. T.;
- Garritsen, Victor H.;
- Raams, Anja;
- Jaspers, Nicolaas G. J.
Publication type:
Article
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.
Published in:
Prenatal Diagnosis, 2006, v. 26, n. 10, p. 980, doi. 10.1002/pd.1541
By:
- Kleijer, Wim J.;
- van der Sterre, Marianne L. T.;
- Garritsen, Victor H.;
- Raams, Anja;
- Jaspers, Nicolaas G. J.
Publication type:
Article

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