Works by Raams, Anja

Results: 28

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

Published in:

Journal of Dermatology (John Wiley & Sons, Inc.), 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

DNA damage‐induced replication stress results in PA200‐proteasome‐mediated degradation of acetylated histones.

Published in:

EMBO Reports, 2018, v. 19, n. 10, p. 1, doi. 10.15252/embr.201745566

By:

Mandemaker, Imke K.;
Geijer, Marit E.;
Kik, Iris;
Bezstarosti, Karel;
Rijkers, Erikjan;
Raams, Anja;
Janssens, Roel C.;
Lans, Hannes;
Hoeijmakers, Jan H. J.;
Demmers, Jeroen A. A.;
Vermeulen, Wim;
Marteijn, Jurgen A.

Publication type:

Article

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1711, doi. 10.1093/hmg/ddab123

By:

Botta, Elena;
Theil, Arjan F;
Raams, Anja;
Caligiuri, Giuseppina;
Giachetti, Sarah;
Bione, Silvia;
Accadia, Maria;
Lombardi, Anita;
Smith, Desiree E C;
Mendes, Marisa I;
Swagemakers, Sigrid M A;
Spek, Peter J van der;
Salomons, Gajja S;
Hoeijmakers, Jan H J;
Yesodharan, Dhanya;
Nampoothiri, Sheela;
Ogi, Tomoo;
Lehmann, Alan R;
Orioli, Donata;
Vermeulen, Wim

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

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Published in:

Nature Genetics, 2001, v. 27, n. 3, p. 299, doi. 10.1038/85864

By:

Vermeulen, Wim;
Rademakers, Suzanne;
Jaspers, Nicolaas G.J.;
Appeldoorn, Esther;
Raams, Anja;
Klein, Binie;
Kleijer, Wim J.;
Kjærsgård Hansen, Lars;
Hoeijmakers, Jan H.J.

Publication type:

Article

Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209101

By:

van den Tempel, Nathalie;
Naipal, Kishan A. T.;
Raams, Anja;
van Gent, Dik C.;
Franckena, Martine;
Boormans, Joost L.;
Kanaar, Roland

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

Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419

By:

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

Publication type:

Article

Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392

By:

Oh, Kyu-Seon;
Khan, Sikandar G.;
Jaspers, N.G.J.;
Raams, Anja;
Ueda, Takahiro;
Lehmann, Alan;
Friedmann, Peter S.;
Emmert, Steffen;
Gratchev, Alexi;
Lachlan, Katherine;
Lucassan, Anneke;
Baker, Carl C.;
Kraemer, Kenneth H.

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

Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies.

Published in:

International Journal of Hyperthermia, 2018, v. 34, n. 4, p. 407, doi. 10.1080/02656736.2017.1355487

By:

van den Tempel, Nathalie;
Odijk, Hanny;
van Holthe, Netteke;
Naipal, Kishan;
Raams, Anja;
Eppink, Berina;
van Gent, Dik C.;
Hardillo, Jose;
Verduijn, Gerda M.;
Drooger, Jan C.;
van Rhoon, Gerard C.;
Smedts, Dineke (H.) P.M.;
van Doorn, Helena C.;
Boormans, Joost L.;
Jager, Agnes;
Franckena, Martine;
Kanaar, Roland

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

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

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

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276

By:

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.

Publication type:

Article

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 11, p. 1, doi. 10.15252/emmm.202317973

By:

Theil, Arjan F;
Pines, Alex;
Kalayci, Tuğba;
Heredia‐Genestar, José M;
Raams, Anja;
Rietveld, Marion H;
Sridharan, Sriram;
Tanis, Sabine EJ;
Mulder, Klaas W;
Büyükbabani, Nesimi;
Karaman, Birsen;
Uyguner, Zehra O;
Kayserili, Hülya;
Hoeijmakers, Jan HJ;
Lans, Hannes;
Demmers, Jeroen AA;
Pothof, Joris;
Altunoglu, Umut;
El Ghalbzouri, Abdoelwaheb;
Vermeulen, Wim

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

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Published in:

BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0520-1

By:

Popp, Isabell;
Punekar, Maqsood;
Telford, Nick;
Stivaros, Stavros;
Chandler, Kate;
Minnis, Meenakshi;
Castleton, Anna;
Higham, Claire;
Hopewell, Louise;
Gareth Evans, D.;
Raams, Anja;
Theil, Arjan F.;
Meyer, Stefan;
Schindler, Detlev

Publication type:

Article

Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality.

Published in:

PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003431

By:

Theil, Arjan F.;
Nonnekens, Julie;
Steurer, Barbara;
Mari, Pierre-Olivier;
de Wit, Jan;
Lemaitre, Charlène;
Marteijn, Jurgen A.;
Raams, Anja;
Maas, Alex;
Vermeij, Marcel;
Essers, Jeroen;
Hoeijmakers, Jan H. J.;
Giglia-Mari, Giuseppina;
Vermeulen, Wim

Publication type:

Article

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Published in:

Neurogenetics, 2022, v. 23, n. 4, p. 271, doi. 10.1007/s10048-022-00697-2

By:

Mirchi, Amytice;
Derksen, Alexa;
Tran, Luan T.;
De Bie, Isabelle;
Nadeau, Amélie;
Lovett, Audrey;
Raams, Anja;
Vermeulen, Wim;
Theil, Arjan F.;
Bernard, Geneviève

Publication type:

Article

Different SWI/SNF complexes coordinately promote R-loop- and RAD52-dependent transcription-coupled homologous recombination.

Published in:

Nucleic Acids Research, 2023, v. 51, n. 17, p. 9055, doi. 10.1093/nar/gkad609

By:

Davó-Martínez, Carlota;
Helfricht, Angela;
Ribeiro-Silva, Cristina;
Raams, Anja;
Tresini, Maria;
Uruci, Sidrit;
van Cappellen, Wiggert A;
Taneja, Nitika;
Demmers, Jeroen A A;
Pines, Alex;
Theil, Arjan F;
Vermeulen, Wim;
Lans, Hannes

Publication type:

Article

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709

By:

Shehata, Laila;
Simeonov, Dimitre R.;
Raams, Anja;
Wolfe, Lynne;
Vanderver, Adeline;
Li, Xueli;
Huang, Yan;
Garner, Shannon;
Boerkoel, Cornelius F.;
Thurm, Audrey;
Herman, Gail E.;
Tifft, Cynthia J.;
He, Miao;
Jaspers, Nicolaas G.J.;
Gahl, William A.

Publication type:

Article

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532

By:

Baradaran-Heravi, Alireza;
Raams, Anja;
Lubieniecka, Joanna;
Cho, Kyoung Sang;
DeHaai, Kristi A.;
Basiratnia, Mitra;
Mari, Pierre-Olivier;
Xue, Yutong;
Rauth, Michael;
Olney, Ann Haskins;
Shago, Mary;
Choi, Kunho;
Weksberg, Rosanna A.;
Nowaczyk, Malgorzata J.M.;
Wang, Weidong;
Jaspers, Nicolaas G.J.;
Boerkoel, Cornelius F.

Publication type:

Article

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230

By:

Schwertman, Petra;
Lagarou, Anna;
Dekkers, Dick H W;
Raams, Anja;
van der Hoek, Adriana C;
Laffeber, Charlie;
Hoeijmakers, Jan H J;
Demmers, Jeroen A A;
Fousteri, Maria;
Vermeulen, Wim;
Marteijn, Jurgen A

Publication type:

Article

Definition of a Short Region of XPG Necessary for TFIIH Interaction and Stable Recruitment to Sites of UV Damage.

Published in:

Molecular & Cellular Biology, 2004, v. 24, n. 24, p. 10670, doi. 10.1128/MCB.24.24.10670-10680.2004

By:

Thorel, Fabrizio;
Constantinou, Angelos;
Dunand-Sauthier, Isabelle;
Nouspikel, Thierry;
Lalle, Philippe;
Raams, Anja;
Jaspers, Nicolaas G. J.;
Vermeulen, Wim;
Shivji, Mahmud K. K.;
Wood, Richard D.;
Clarkson, Stuart G.

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

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