N. Jaspers

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An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

C. D. De Zeeuw, J. Hoeijmakers, W. Vermeulen, 2006, Cancer cell.

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.

M. Oshimura, A. Kurimasa, M. Ichihashi, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Molecular mechanism of nucleotide excision repair.

W. de Laat, J. Hoeijmakers, N. Jaspers, 1999, Genes & development.

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.

J. Hoeijmakers, G. Giglia-Mari, W. Vermeulen, 2007, American journal of human genetics.

Syndrome Xeroderma Pigmentosum and Cockayne from Patients with Combined Features of Xeroderma Pigmentosum Group D Cells Transcription-Associated Breaks in

L. Mullenders, A. Lehmann, M. Volker, 2005 .

Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

L. Harries, L. Mullenders, A. Lehmann, 2005, Molecular and Cellular Biology.

Dynamics of relative chromosome position during the cell cycle.

W. V. van Cappellen, J. Hoeijmakers, R. Kanaar, 2004, Molecular biology of the cell.

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

R. Wood, A. Constantinou, W. Vermeulen, 2004, Molecular and Cellular Biology.

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

R. Aebersold, J. Ranish, J. Hoeijmakers, 2004, Nature Genetics.

The Structure-Specific Endonuclease Ercc1-Xpf Is Required To Resolve DNA Interstrand Cross-Link-Induced Double-Strand Breaks

J. Hoeijmakers, R. Kanaar, H. Beverloo, 2004, Molecular and Cellular Biology.

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

M. Kelner, J. Hoeijmakers, Y. Yamashita, 2002, DNA repair.

When machines get stuck--obstructed RNA polymerase II: displacement, degradation or suicide.

W. Vermeulen, N. Jaspers, V. van den Boom, 2002, BioEssays : news and reviews in molecular, cellular and developmental biology.

Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F.

A. Yasui, J. Hoeijmakers, D. Bootsma, 1993, The EMBO journal.

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

M. Lovett, F. Collins, S. Weissman, 1995, Science.

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

Sikandar G. Khan, K. Lachlan, A. Lehmann, 2006, Human mutation.

MicroRNA‐mediated gene silencing modulates the UV‐induced DNA‐damage response

W. V. van IJcken, E. Wiemer, J. Hoeijmakers, 2009, The EMBO journal.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

A. Lehmann, C. Arlett, A. Sarasin, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.

P. V. van Buul, H. Joenje, F. Arwert, 2006, Mutation research.

Brca2 (XRCC11) Deficiency Results in Radioresistant DNA Synthesis and a Higher Frequency of Spontaneous Deletions

R. Kanaar, P. V. van Buul, J. Essers, 2002, Molecular and Cellular Biology.

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

D. Schindler, J. Rouse, Y. Hilhorst‐Hofstee, 2011, Nature Genetics.

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

J. R. MacDonald, S. Scherer, J. Beckmann, 2005, American journal of human genetics.

Recombining DNA Damage Repair, Basal Transcription, and Human Syndromes

J. Hoeijmakers, W. D. Laat, W. Vermeulen, 1997 .

Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).

S. Humbert, J. Hoeijmakers, W. Vermeulen, 1994, The EMBO journal.

Predominance of null mutations in ataxia-telangiectasia.

Y. Shiloh, S. Gilad, O. Sanal, 1996, Human molecular genetics.

Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.

M. Oshimura, G. Verhaegh, E. Stanbridge, 1995, American journal of human genetics.

A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q.

M. Oshimura, G. Verhaegh, A. Natarajan, 1995, American journal of human genetics.

Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients.

R. Gatti, C. Baan, D. Bootsma, 1988, Cytogenetics and cell genetics.

The Molecular Biology of Carcinogenesis

N. Jaspers, A. V. D. Kamp, 1984 .

Pollitt syndrome patients carry mutation in TTDN1

S. Lincoln, R. Tearle, A. Kremer, 2014, Meta gene.

Meta Gene Pollitt syndrome patients carrymutation in TTDN 1

S. Lincoln, R. Tearle, A. Kremer, 2014 .

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

A. Lehmann, A. Gratchev, A. Sarasin, 2008, DNA repair.

Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome.

W. Vermeulen, A. Lehmann, J. Egly, 1994, Cold Spring Harbor symposia on quantitative biology.

Mutational analysis of the human nucleotide excision repair gene ERCC1.

P. J. van der Spek, J. Hoeijmakers, D. Bootsma, 1996, Nucleic acids research.

Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities.

J. Hoeijmakers, J. Egly, A. Eker, 1995, Mutation research.

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.

J. Hoeijmakers, W. Vermeulen, J. Jaeken, 1993, American journal of human genetics.

Cellular and molecular characteristics of an immortalized ataxia-telangiectasia (group AB) cell line.

L. Trakhtenbrot, Y. Ziv, T. Danieli, 1989, Cancer research.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

A. Lehmann, P. Giunti, H. Fassihi, 2016, Proceedings of the National Academy of Sciences.

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

D. Pehlivan, N. Jaspers, A. Raams, 2012, Journal of dermatology (Print).

XerodermaPigmentosum Complementation GroupG Associated withCockayne Syndrome

W. Vermeulen, H. J. Hoeijmakers, J. Jaeken, 1993 .

A seventh complementation group in excision-deficient xeroderma pigmentosum.

P. J. Abrahams, D. Bootsma, C. Arlett, 1979, Mutation research.

Isolation and Characterization of Genes Involved in Mammalian Excision Repair

A. Yasui, J. Hoeijmakers, D. Bootsma, 1989 .

Complementation of transformed fibroblasts from patients with combined xeroderma pigmentosum-Cockayne syndrome.

S. Clarkson, A. Ellison, D. Gruenert, 1998, Experimental cell research.

Cellular and molecular characteristics of an immortalized ataxia-telangiectasia (group AB) cell line.

Y. Shiloh, L. Trakhtenbrot, Y. Ziv, 1989, Cancer research.

Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells.

Y. Shiloh, Y. Ziv, N. Jaspers, 1989, Mutation research.

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

A. Sarasin, A. Lehmann, J. Offman, 2007, Human mutation.

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

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2009, Human molecular genetics.

AT-like Radiosensitive Rodent Cell Mutants: An Alternative Approach to the Isolation of the A-T Gene(s)

M. James, M. Oshimura, G. Verhaegh, 1993 .

Complementation analysis of xeroderma pigmentosum variants

D. Bootsma, N. Jaspers, Gerard van de Kuilen, 1981 .

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions

A. Lehmann, H. Fassihi, R. Sarkany, 2013, The British journal of dermatology.

Xeroderma pigmentosum group A correcting protein from calf thymus.

K. Tanaka, J. Hoeijmakers, W. Vermeulen, 1992, Mutation research.

Complementation of the Cellular A-T Phenotype by Gene Transfer.

R. Eddy, T. Shows, Y. Shiloh, 1993 .

Effects of microinjected photoreactivating enzyme on thymine dimer removal and DNA repair synthesis in normal human and xeroderma pigmentosum fibroblasts.

J. Hoeijmakers, W. Vermeulen, L. Roza, 1990, Cancer research.

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

R. Weksberg, M. Shago, C. Boerkoel, 2012, American journal of medical genetics. Part A.

Sister chromatid exchanges, hyperdiploidy and chromosomal rearrangements studied in cells from melanoma-prone individuals belonging to families with the dysplastic nevus syndrome.

N. Jaspers, P. Rümke, J. Van Hemel, 1987, Cancer genetics and cytogenetics.

Complementation analysis of ataxia-telangiectasia.

M. Paterson, T. Inoue, N. Jaspers, 1985, Kroc Foundation series.

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

C. Baan, N. Jaspers, R. Taalman, 1988, American journal of human genetics.

Inhibition of DNA synthesis by ionizing radiation: a marker for an S-phase checkpoint.

N. Jaspers, M. Zdzienicka, 2006, Methods in molecular biology.

1 Mutations of the DNA repair endonuclease ERCC 4 / XPF cause Fanconi anemia

J. Benítez, Detlev, J. Surrallés, 2015 .

Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.

G. Verhaegh, A. Friedl, N. Jaspers, 1999, Mutation research.

Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome.

J. de Wit, N. Jaspers, R. Taalman, 1983, Mutation research.

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

L. Ousager, N. Jaspers, A. Raams, 2013, Rare diseases.

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion.

D. Bootsma, N. Jaspers, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Abnormal Regulation of DMA Replication and Increased Lethality in Ataxia Telangiectasia Cells Exposed to Carcinogenic Agents 1

M. Regulski, D. Bootsma, N. Jaspers, 2006 .

Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents.

M. Regulski, D. Bootsma, J. de Wit, 1982, Cancer research.

Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair

D. Bootsma, N. Jaspers, J. Boué, 1979, Clinical genetics.

The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation.

D. Bootsma, J. de Wit, N. Jaspers, 1981, Mutation research.

A new chromosomal instability disorder confirmed by complementation studies.

F. Hanefeld, R. Wegner, K. Sperling, 1988, Clinical genetics.

Ataxia-telangiectasia-like Chinese hamster V79 cell mutants with radioresistant DNA synthesis, chromosomal instability, and normal DNA strand break repair.

A. Natarajan, N. Jaspers, G. P. van der Schans, 1989, Cancer research.

Workshop on Ataxia Telangiectasia

R. Gatti, A. Lehmann, N. Jaspers, 1987 .

Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

Y. Shiloh, M. Lathrop, C. Julier, 1992, Human Genetics.

DNA synthesis in ataxia telangiectasia

N. Jaspers, 1985 .

Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies.

N. Jaspers, 1996, Cytokines and molecular therapy.

Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk

N. Jaspers, A. Raams, W. Kleijer, 2007, Prenatal diagnosis.

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

N. Jaspers, A. Raams, W. Kleijer, 2006, Prenatal diagnosis.

DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair.

W. de Laat, J. Hoeijmakers, W. D. Laat, 1998, Genes & development.

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

A. Sarasin, F. Hanaoka, A. Lehmann, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Fifth International Workshop on Ataxia-Telangiectasia.

A. Taylor, R. Gatti, N. Jaspers, 1993, Cancer research.

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

R. Siebert, M. Poot, T. Haaf, 2012, European journal of medical genetics.

Does human retardation occur at the molecular level

N. Jaspers, J. Verhulst, 1997 .

Functional cloning of drug resistance genes from retroviral cDNA libraries.

N. Jaspers, G. Stoter, K. Nooter, 2003, Biochemical and biophysical research communications.

Functional Complementation Studies with X-ray-sensitive Mutants of Chinese Hamster Cells Closely Resembling Ataxia-telangiectasia Cells.

M. Oshimura, G. Verhaegh, B. Morolli, 1994, International journal of radiation biology.

Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency

J. Hoeijmakers, M. Tresini, D. Jaarsma, 2014, PLoS genetics.

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

J. Hoeijmakers, W. Vermeulen, S. Rademakers, 2001, Nature Genetics.

Inhibition of DNA synthesis by ionizing radiation.

N. Jaspers, M. Zdzienicka, 1999, Methods in molecular biology.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Chantal Stoepker, Javier Benítez, Jordi Surrallés, 2013, American journal of human genetics.

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

J. Hoeijmakers, G. Garinis, W. Vermeulen, 2006, Nature.

The defect in the AT-like hamster cell mutants is complemented by mouse chromosome 9 but not by any of the human chromosomes.

M. Oshimura, Y. Shiloh, G. Verhaegh, 1996, Mutation research.

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

M. van der Burg, J. V. van Dongen, N. Verkaik, 2005, The Journal of clinical investigation.

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.

M. van der Burg, J. V. van Dongen, Rebecca Esveldt-van Lange, 2010, DNA repair.

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

R. Gatti, C. Curry, N. Jaspers, 1989, American journal of human genetics.

Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease

R. Wood, J. Hoeijmakers, W. D. Laat, 1996, Cell.

Mapping of interaction domains between human repair proteins ERCC1 and XPF.

W. de Laat, J. Hoeijmakers, W. D. Laat, 1998, Nucleic acids research.

Impaired DNA repair capacity in skin fibroblasts from various hereditary cancer-prone syndromes.

L. Mullenders, P. J. Abrahams, A. Houweling, 1998, Mutation research.

Complementation of chromosomal aberrations in AT/NBS hybrids: inadequacy of RDS as an endpoint in complementation studies with immortal NBS cells.

A. Natarajan, N. Jaspers, P. Lohman, 2001, Mutation research.

Regulation of UV-induced DNA damage response by ubiquitylation.

Wim Vermeulen, W. Vermeulen, N. Jaspers, 2007, DNA repair.

Neurological symptoms and natural course of xeroderma pigmentosum.

R. Portin, A. Lehmann, T. Kurki, 2008, Brain : a journal of neurology.

egulation of UV-induced DNA damage esponse by ubiquitylation

W. Vermeulen, N. Jaspers, teven Bergink, 2007 .

DNA Structural Elements Required for ERCC1-XPF Endonuclease Activity*

W. de Laat, J. Hoeijmakers, N. Jaspers, 1998, The Journal of Biological Chemistry.

The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex*

R. Kaptein, G. Folkers, R. Boelens, 2015, The Journal of Biological Chemistry.

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.

R. Kaptein, G. Folkers, R. Boelens, 2012, Structure.

Co-dominance of radioresistant DNA synthesis in a group of AT-like Chinese hamster cell mutants.

G. Verhaegh, N. Jaspers, P. Lohman, 1993, Cytogenetics and cell genetics.

Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.

Y. Miki, L. Mullenders, Siripan Limsirichaikul, 2010, Molecular cell.

The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair.

R. Kaptein, G. Folkers, R. Boelens, 2005, Structure.

Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy

D. Zafeiriou, S. Clarkson, N. Jaspers, 2001, Pediatric Research.

In Vitro Correction of Cells from Patients with Mutagen Hypersensitivity

J. Hoeijmakers, W. Vermeulen, L. Roza, 1989 .

A novel type of X-ray-sensitive Chinese hamster cell mutant with radioresistant DNA synthesis and hampered DNA double-strand break repair.

G. Verhaegh, B. Morolli, W. Jongmans, 1995, Mutation research.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

A. Vanderver, C. Boerkoel, C. Tifft, 2014, American journal of medical genetics. Part A.

Inhibition of DNA synthesis in ataxia telangiectasia fibroblasts after exposure to DNA-damaging agents

M. James, A. Lehmann, D. Bootsma, 1982 .

Abnormal levels of UV-induced unscheduled DNA synthesis in ataxia telangiectasia cells after exposure to ionizing radiation.

D. Bootsma, N. Jaspers, 1982, Mutation research.

Genetic complementation analysis of ataxia telangiectasia by somatic cell fusion.

D. Bootsma, N. Jaspers, 1982, IARC scientific publications.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

P. J. van der Spek, J. Hoeijmakers, W. Vermeulen, 2017, Human molecular genetics.

RAPID DIAGNOSTIC TEST FOR ATAXIA TELANGIECTASIA

D. Bootsma, N. Jaspers, J. Wit, 1981, The Lancet.

Attenuated XPC Expression Is Not Associated with Impaired DNA Repair in Bladder Cancer

J. Hoeijmakers, R. Kanaar, N. Verkaik, 2015, PloS one.

ERCC6 founder mutation identified in Finnish patients with COFS syndrome

N. Jaspers, A. Raams, E. Jaakkola, 2010, Clinical genetics.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

B. Hamel, B. Hamel, N. Jaspers, 1996 .

DNA repair genes, enzymes, patients, and mouse models.

N. Jaspers, 1997, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.

Ataxia-telangiectasia: linkage evidence for genetic heterogeneity.

E. Sobel, Y. Shiloh, A. Taylor, 1992, American journal of human genetics.

Retinoic acid and defective UV light induced DNA excision repair in xeroderma pigmentosum: Absence of ameliorating effect

N. Jaspers, P. C. Voorst Vader, A. V. D. Kamp, 2004, Archives of Dermatological Research.

The HhH domain of the human DNA repair protein XPF forms stable homodimers

R. Kaptein, G. Folkers, R. Boelens, 2007, Proteins.

A case of Rombo syndrome

P. Steijlen, N. Jaspers, M. V. van Steensel, 2001, The British journal of dermatology.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

J. Benítez, J. Surrallés, M. Ramírez, 2013, American journal of human genetics.

MicroRNA‐mediated gene silencing modulates the UV‐induced DNA‐damage response

E. Wiemer, J. Hoeijmakers, N. Verkaik, 2009, The EMBO journal.