Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
Bogliolo, Massimo, Schuster, Beatrice, Stoepker, Chantal, Derkunt, Burak, Su, Yan, Raams, Anja, Trujillo, Juan P., Minguillón, Jordi, Ramírez, María J., Pujol, Roser, Casado, José A., Baños, Rocío, Rio, Paula, Knies, Kerstin, Zúñiga, Sheila, Benítez, Javier, Bueren, Juan A., Jaspers, Nicolaas G.J., Schärer, Orlando D., de Winter, Johan P., Schindler, Detlev, Surrallés, Jordi
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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The Structure of the XPF-ssDNA Complex Underscores the Distinct Roles of the XPF and ERCC1 Helix- Hairpin-Helix Domains in ss/ds DNA Recognition
Das, Devashish, Folkers, Gert E., van Dijk, Marc, Jaspers, Nicolaas G.J., Hoeijmakers, Jan H.J., Kaptein, Robert, Boelens, Rolf
Published in Structure (London) (04.04.2012)
Published in Structure (London) (04.04.2012)
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SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Schindler, Detlev, Rouse, John, de Winter, Johan P, 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
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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A temperature-sensitive disorder in basal transcription and DNA repair in humans
Hoeijmakers, Jan H.J, Vermeulen, Wim, Rademakers, Suzanne, Jaspers, Nicolaas G.J, Appeldoorn, Esther, Raams, Anja, Klein, Binie, Kleijer, Wim J, Kjærsgård Hansen, Lars
Published in Nature genetics (01.03.2001)
Published in Nature genetics (01.03.2001)
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Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency
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
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Kleijer, Wim J., Laugel, Vincent, Berneburg, Mark, Nardo, Tiziana, Fawcett, Heather, Gratchev, Alexei, Jaspers, Nicolaas G.J., Sarasin, Alain, Stefanini, Miria, Lehmann, Alan R.
Published in DNA repair (03.05.2008)
Published in DNA repair (03.05.2008)
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The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex
Faridounnia, Maryam, Wienk, Hans, Kovačič, Lidija, Folkers, Gert E., Jaspers, Nicolaas G.J., Kaptein, Robert, Hoeijmakers, Jan H.J., Boelens, Rolf
Published in The Journal of biological chemistry (14.08.2015)
Published in The Journal of biological chemistry (14.08.2015)
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Journal Article
The Structure of the Human ERCC1/XPF Interaction Domains Reveals a Complementary Role for the Two Proteins in Nucleotide Excision Repair
Tripsianes, Konstantinos, Folkers, Gert, AB, Eiso, Das, Devashish, Odijk, Hanny, Jaspers, Nicolaas G.J., Hoeijmakers, Jan H.J., Kaptein, Robert, Boelens, Rolf
Published in Structure (London) (01.12.2005)
Published in Structure (London) (01.12.2005)
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Journal Article
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients
Ahmad, Anwaar, Enzlin, Jacqueline H, Bhagwat, Nikhil R, Wijgers, Nils, Raams, Anja, Appledoorn, Esther, Theil, Arjan F, J Hoeijmakers, Jan H, Vermeulen, Wim, J Jaspers, Nicolaas G, Schärer, Orlando D, Niedernhofer, Laura J
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair
de Laat, W L, Appeldoorn, E, Sugasawa, K, Weterings, E, Jaspers, N G, Hoeijmakers, J H
Published in Genes & development (15.08.1998)
Published in Genes & development (15.08.1998)
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An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
Andressoo, Jaan-Olle, Mitchell, James R., de Wit, Jan, Hoogstraten, Deborah, Volker, Marcel, Toussaint, Wendy, Speksnijder, Ewoud, Beems, Rudolph B., van Steeg, Harry, Jans, Judith, de Zeeuw, Chris I., Jaspers, Nicolaas G.J., Raams, Anja, Lehmann, Alan R., Vermeulen, Wim, Hoeijmakers, Jan H.J., van der Horst, Gijsbertus T.J.
Published in Cancer cell (01.08.2006)
Published in Cancer cell (01.08.2006)
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Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
Janssen, Rolf J.R.J., Distelmaier, Felix, Smeets, Roel, Wijnhoven, Tessa, Østergaard, Elsebet, Jaspers, Nicolaas G.J., Raams, Anja, Kemp, Stephan, Rodenburg, Richard J.T., Willems, Peter H.M.G., van den Heuvel, Lambert P.W.J., Smeitink, Jan A.M., Nijtmans, Leo G.J.
Published in Human molecular genetics (15.09.2009)
Published in Human molecular genetics (15.09.2009)
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Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
Jaspers, Nicolaas G.J, Raams, Anja, Kelner, Michael J, Ng, Jessica M.Y, Yamashita, Yukiko M, Takeda, Shiunichi, McMorris, Trevor C, Hoeijmakers, Jan H.J
Published in DNA repair (05.12.2002)
Published in DNA repair (05.12.2002)
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Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease
Sijbers, Anneke M, de Laat, Wouter L, Ariza, Rafael R, Biggerstaff, Maureen, Wei, Ying-Fei, Moggs, Jonathan G, Carter, Kenneth C, Shell, Brenda K, Evans, Elizabeth, de Jong, Mariska C, Rademakers, Suzanne, de Rooij, Johan, Jaspers, Nicolaas G.J, Hoeijmakers, Jan H.J, Wood, Richard D
Published in Cell (06.09.1996)
Published in Cell (06.09.1996)
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Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy
Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, MacDonald, Jeffrey R., Puffenberger, Erik G., Christiano, Angela M., Martinez-Mir, Amalia, Salas-Alanis, Julio C., Rizzo, Renata, Vamos, Esther, Raams, Anja, Les, Clifford, Seboun, Eric, Jaspers, Nicolaas G.J., Beckmann, Jacques S., Jackson, Charles E., Scherer, Stephen W.
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
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A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship
Pehlivan, Davut, Cefle, Kivanc, Raams, Anja, Ozturk, Sukru, Baykal, Can, Kleijer, Wim J., Palanduz, Sukru, Jaspers, Nicolaas G. J.
Published in Journal of dermatology (01.12.2012)
Published in Journal of dermatology (01.12.2012)
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Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2
Godthelp, Barbara C, van Buul, Paul P W, Jaspers, Nicolaas G J, Elghalbzouri-Maghrani, Elhaam, van Duijn-Goedhart, Annemarie, Arwert, Fré, Joenje, Hans, Zdzienicka, Małgorzata Z
Published in Mutation research (10.10.2006)
Published in Mutation research (10.10.2006)
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Dynamics of relative chromosome position during the cell cycle
Essers, Jeroen, van Cappellen, Wiggert A, Theil, Arjan F, van Drunen, Ellen, Jaspers, Nicolaas G J, Hoeijmakers, Jan H J, Wyman, Claire, Vermeulen, Wim, Kanaar, Roland
Published in Molecular biology of the cell (01.02.2005)
Published in Molecular biology of the cell (01.02.2005)
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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
Botta, Elena, Offman, Judith, Nardo, Tiziana, Ricotti, Roberta, Zambruno, Giovanna, Sansone, Daniela, Balestri, Paolo, Raams, Anja, Kleijer, Wim J., Jaspers, Nicolaas G.J., Sarasin, Alain, Lehmann, Alan R., Stefanini, Miria
Published in Human mutation (01.01.2007)
Published in Human mutation (01.01.2007)
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