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repair patient mutation protein level syndrome tfiih dna repair analysis nucleotide defect nucleotide excision repair excision transcription broblast ercc 1 group pigmentosum xeroderma activity fi broblasts illudin control fibroblast lesion xpc-gfp genetic figure xeroderma pigmentosum genet factor disease xpf-ercc subunit ndufaf synthesis deletion antibody ttd 1ro damage xpf-ercc 1 diagnosis cockayne control fi broblasts xpfr 153p nucleus mitochondrial trichothiodystrophy hoeijmaker 165 tor cells index patient culture jasper panel c 7orf result wild-type volume cancer sensitivity vermeulen ficiency feature tfb 5 cockayne syndrome ttd-a ficient individual mobility c 5ro complementation university tc-ner journal binding mechanism american journal number assembly symptom
10 Most Recent Publications
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Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
(Article)
Bogliolo, M. Schuster, B. Casado, J.A. Baños, R. Rio, P. Knies, K. Zúñiga, S. Benítez, J. Bueren, J. Jaspers, N.G.J. Schärer, O.D. Winter, J.P. de Stoepker, C. Schindler, D. Surrallés, J. Derkunt, B. Su, Y. Raams, A. Trujillo, J.P. Minguillón, J. Ramírez, M.J. Pujol, R. |
2013-05-02
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ERCC6 founder mutation identified in Finnish patients with COFS syndrome
(Article)
Jaakkola, E. Mustonen, A. Olsen, P. Miettinen, S. Savuoja, T. Raams, A. Jaspers, N.G.J. Shao, H. Wu, B.L. Ignatius, J. |
2010-12-01
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Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients
(Article)
Ahmad, R.A. Enzlin, J.H. Schärer, O.D. Niedernhofer, L.J. Bhagwat, N. Wijgers, N. Raams, A. Appledoorn, E. Theil, A.F. Hoeijmakers, J.H.J. Vermeulen, W. Jaspers, N.G.J. |
2010-03-01
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Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
(Article)
Janssen, R.J.R.J. Distelmaier, F. Heuvel, L.P.W.J. van den Smeitink, J.A.M. Nijtmans, L.G.J. Smeets, R. Wijnhoven, T. Østergaard, E. Jaspers, N.G.J. Raams, A. Kemp, S. Rodenburg, R.J.T. Willems, P.H.M.G. |
2009-09-04
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Erratum: Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC (Journal of Cell Science (2008) vol. 121 (2850-2859))
(Article)
Hoogstraten, D. Bergink, S. Houtsmuller, A.B. Ng, J.M.Y. Verbiest, V. Luijsterburg, M.S. Geverts, B. Raams, A. Dinant, C. Hoeijmakers, J.H.J. Vermeulen, W. |
2008-12-01
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Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC
(Article)
Hoogstraten, D. Bergink, S. Verbiest, V. Luijsterburg, M.S. Geverts, B. Raams, A. Dinant, C. Hoeijmakers, J.H.J. Vermeulen, W. Houtsmuller, A.B. |
2008-09-01
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Erratum: Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC (Journal of Cell Science vol. 121 (2850-2859))
(Article)
Hoogstraten, D. Bergink, S. Verbiest, V. Luijsterburg, M.S. Geverts, B. Raams, A. Dinant, C. Hoeijmakers, J.H.J. Vermeulen, W. Houtsmuller, A.B. |
2008-09-01
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Prenatal diagnosis of Xeroderma pigmentosum and Trichothiodystrophy in 76 pregnancies at risk
(Article)
Kleijer, W.J. Sterre, M.L.T. van der Garritsen, V.H. Raams, A. Jaspers, N.G.J. |
2007-12-01
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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio- skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
(Article)
Jaspers, N.G.J. Raams, A. Vermeulen, W. Silengo, M.C. Wijgers, N. Niedernhofer, L.J. Robinson, A.R. Giglia-Mari, G. Hoogstraten, D. Kleijer, W.J. Hoeijmakers, J.H.J. |
2007-03-01
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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: No obvious genotype-phenotype relationships
(Article)
Botta, E. Offman, J. Sarasin, A. Lehmann, A.R. Stefanini, M. Nardo, T. Ricotti, R. Zambruno, G. Sansone, D. Balestri, P. Raams, A. Kleijer, W.J. Jaspers, N.G.J. |
2007-01-01
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