A. Raams

发表

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.

Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients

W. Vermeulen, L. Niedernhofer, Arjan F Theil, 2010, PLoS genetics.

Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC

A. Houtsmuller, J. Hoeijmakers, W. Vermeulen, 2008, Journal of Cell Science.

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.

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.

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.

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.

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.

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.

J. Snoek, A. Sijbers, A. Raams, 1998, The Journal of investigative dermatology.

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 .

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

J. Hoeijmakers, G. Giglia-Mari, W. Vermeulen, 2013, PLoS genetics.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

J. Graham, A. Raams, W. Kleijer, 2001, American journal of human genetics.

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

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

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

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

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.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

R. Casadio, P. Striano, E. Aronica, 2021, Brain : a journal of neurology.

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.

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

W. Vermeulen, Isabelle De Bie, G. Bernard, 2022, neurogenetics.

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

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

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

D. Schindler, S. Meyer, A. Raams, 2018, BMC Medical Genetics.

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

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

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

R. Kanaar, D. V. van Gent, J. Boormans, 2018, PloS one.

The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

T. Stankovic, G. Stewart, P. Byrd, 1999, Cell.

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.

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.

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

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

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

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

Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability

John J. Wyrick, J. Wyrick, R. Bernards, 2021, Nature Cell Biology.

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

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

Active DNA damage eviction by HLTF stimulates nucleotide excision repair.

G. Giglia-Mari, W. Vermeulen, M. Tresini, 2022, Molecular cell.

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.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

W. Gahl, G. Mancini, W. Vermeulen, 2019, American journal of human genetics.

ERCC6 founder mutation identified in Finnish patients with COFS syndrome

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

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

Jeroen A. A. Demmers, J. Hoeijmakers, W. Vermeulen, 2012, Nature Genetics.

Neurological symptoms and natural course of xeroderma pigmentosum.

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

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

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

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2021, Human molecular genetics.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

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

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

J. Hoeijmakers, W. Vermeulen, E. Rijkers, 2018, EMBO reports.

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

A. Jager, G. V. van Rhoon, H. V. van Doorn, 2018, International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2019, American journal of human genetics.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

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

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

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

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

W. V. van Cappellen, W. Vermeulen, M. Tresini, 2023, Nucleic acids research.

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

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

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

H. Kayserili, J. Pothof, A. Raams, 2023, EMBO molecular medicine.

The role of the Fanconi anemia pathway in sporadic head and neck cancer

J. Surrallés, D. Schindler, M. Bogliolo, 2022 .