Nicolaas G J Jaspers

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc 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
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 80:457-66. 2007
  2. ncbi request reprint A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
    Laura J Niedernhofer
    Center for Biomedical Genetics Medical Genetic Center Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nature 444:1038-43. 2006
  3. ncbi request reprint Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 27:1133-7. 2007
  4. ncbi request reprint A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
    Giuseppina Giglia-Mari
    Department of Genetics, Medical Genetic Cluster, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Genet 36:714-9. 2004
  5. ncbi request reprint Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 26:980-4. 2006
  6. pmc Dynamics of relative chromosome position during the cell cycle
    Jeroen Essers
    Department of Cell Biology and Genetics, Erasmus Medical Center, 3000 DR Rotterdam, The Netherlands
    Mol Biol Cell 16:769-75. 2005
  7. ncbi request reprint Inhibition of DNA synthesis by ionizing radiation: a marker for an S-phase checkpoint
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Methods Mol Biol 314:51-9. 2006
  8. doi request reprint Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    DNA Repair (Amst) 7:744-50. 2008
  9. ncbi request reprint Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
    Nicolaas G J Jaspers
    Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    DNA Repair (Amst) 1:1027-38. 2002
  10. ncbi request reprint An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
    Jaan Olle Andressoo
    Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Cancer Cell 10:121-32. 2006

Collaborators

Detail Information

Publications25

  1. pmc 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
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 80:457-66. 2007
    ..This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1...
  2. ncbi request reprint A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
    Laura J Niedernhofer
    Center for Biomedical Genetics Medical Genetic Center Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nature 444:1038-43. 2006
    ....
  3. ncbi request reprint Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 27:1133-7. 2007
    ..Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977...
  4. ncbi request reprint A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
    Giuseppina Giglia-Mari
    Department of Genetics, Medical Genetic Cluster, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Genet 36:714-9. 2004
    ..The identification of a new evolutionarily conserved subunit of TFIIH implicated in TTD-A provides insight into TFIIH function in transcription, DNA repair and human disease...
  5. ncbi request reprint Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 26:980-4. 2006
    ..Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome...
  6. pmc Dynamics of relative chromosome position during the cell cycle
    Jeroen Essers
    Department of Cell Biology and Genetics, Erasmus Medical Center, 3000 DR Rotterdam, The Netherlands
    Mol Biol Cell 16:769-75. 2005
    ..However, the daughter cells eventually regain the general chromosomal organization pattern of their mothers, suggesting an active mechanism could be at play to reestablish chromosomal neighborhoods...
  7. ncbi request reprint Inhibition of DNA synthesis by ionizing radiation: a marker for an S-phase checkpoint
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Methods Mol Biol 314:51-9. 2006
    ..Here a simple, accurate and highly reproducible experimental protocol is presented for the generation of DNA synthesis inhibition curves from cells in culture...
  8. doi request reprint Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    DNA Repair (Amst) 7:744-50. 2008
    ..1 per million for TTD. Perhaps contrary to general conceptions, compared to XP the incidence of CS appears to be somewhat higher and the incidence of TTD to be quite similar in the native West-European population...
  9. ncbi request reprint Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
    Nicolaas G J Jaspers
    Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    DNA Repair (Amst) 1:1027-38. 2002
    ..We show that the semisynthetic illudin derivative hydroxymethylacylfulvene (HMAF, Irofulven), currently under clinical trial for anti-tumour therapy, acts via the same mechanism...
  10. ncbi request reprint An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
    Jaan Olle Andressoo
    Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Cancer Cell 10:121-32. 2006
    ..Like CS fibroblasts, XPCS and TTD fibroblasts from human and mouse showed evidence of defective repair of oxidative DNA lesions that may underlie these segmental progeroid symptoms...
  11. pmc A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
    Mirjam van der Burg
    Department of Immunology and Department of Cell Biology and Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Clin Invest 116:137-45. 2006
    ..In conclusion, different LIG4 mutations can result in either a developmental defect with minor immunological abnormalities or a SCID picture with normal development...
  12. ncbi request reprint The HhH domain of the human DNA repair protein XPF forms stable homodimers
    Devashish Das
    Bijvoet Center for Biomolecular Research, Utrecht University, 3584 CH Utrecht, The Netherlands
    Proteins 70:1551-63. 2008
    ..The XPF HhH homodimer has a larger interaction interface, aromatic stacking interactions, and additional hydrogen bond contacts as compared to the XPF/ERCC1 HhH complex, which accounts for its higher stability...
  13. pmc Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
    Maria Kraakman-van der Zwet
    Department of Radiation Genetics and Chemical Mutagenesis MGC, Leiden University Medical Center, The Netherlands
    Mol Cell Biol 22:669-79. 2002
    ....
  14. ncbi request reprint The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair
    Konstantinos Tripsianes
    Department of NMR Spectroscopy, Bijvoet Center for Biomolecular Research, Utrecht University, Padualaan 8, 3584 CH Utrecht, The Netherlands
    Structure 13:1849-58. 2005
    ..On the basis of these findings, we propose a model for the targeting of XPF nuclease via ERCC1-mediated interactions in the context of nucleotide excision repair...
  15. ncbi request reprint Functional cloning of drug resistance genes from retroviral cDNA libraries
    Peter T Bosma
    Department of Medical Oncology, Josephine Nefkens Institute, 3000 DR Rotterdam, The Netherlands
    Biochem Biophys Res Commun 309:605-11. 2003
    ....
  16. doi request reprint Neurological symptoms and natural course of xeroderma pigmentosum
    Anu Anttinen
    Department of Neurology, Turku University Central Hospital, PB 52, 20521 Turku, Finland
    Brain 131:1979-89. 2008
    ....
  17. pmc Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
    Fabrizio Thorel
    Department of Microbiology and Molecular Medicine, University Medical Centre, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mol Cell Biol 24:10670-80. 2004
    ..This observation has potential implications that extend beyond nucleotide excision repair...
  18. pmc Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome
    Therina Theron
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom
    Mol Cell Biol 25:8368-78. 2005
    ....
  19. ncbi request reprint Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
    Elena Botta
    Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche CNR, Pavia, Italy
    Hum Mutat 28:92-6. 2007
    ..Mutations in TTDN1 do not affect the response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD...
  20. pmc Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
    Kazuhiko Nakabayashi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Am J Hum Genet 76:510-6. 2005
    ..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair...
  21. ncbi request reprint Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2
    Barbara C Godthelp
    Department of Toxicogenetics, Leiden University Medical Center, Building 2, Postzone S 6 P, 2300 RC, Leiden, The Netherlands
    Mutat Res 601:191-201. 2006
    ....
  22. ncbi request reprint Regulation of UV-induced DNA damage response by ubiquitylation
    Steven Bergink
    MGC CBG Department of Cell Biology and Genetics, Erasmus MC, P O Box 2040, 3000CA Rotterdam, The Netherlands
    DNA Repair (Amst) 6:1231-42. 2007
    ..We discuss the implications of these modifications to allow swift adaptation and regulation of genome surveillance factors...
  23. ncbi request reprint When machines get stuck--obstructed RNA polymerase II: displacement, degradation or suicide
    Vincent van den Boom
    Department of Cell Biology and Genetics, Medical Genetic Center, Erasmus University Rotterdam, The Netherlands
    Bioessays 24:780-4. 2002
    ..The identification and characterisation of a novel protein co-purifying with the yeast homologue of CSB (Rad26) imposes reassessment of our current understanding of TCR in yeast. What about humans?..
  24. pmc Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients
    Bernard C Broughton
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RR, United Kingdom
    Proc Natl Acad Sci U S A 99:815-20. 2002
    ..There is a wide variability in clinical features among patients, which is not obviously related to the site or type of mutation...
  25. pmc Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
    Katsuyoshi Horibata
    Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 101:15410-5. 2004
    ..Possible explanations for the discrepancy in the genotype-phenotype relationship in UVs1KO are presented...