Publications | PubMed=3803387; DOI=10.1111/j.1432-1033.1987.tb10598.x Martin Poot, Anton Verkerk, Johan F. Koster, Hermann Esterbauer, Johan F. Jongkind; Influence of cumene hydroperoxide and 4-hydroxynonenal on the glutathione metabolism during in vitro ageing of human skin fibroblasts. Eur. J. Biochem. 162:287-291(1987) PubMed=3337113; PMCID=PMC1715319 Nicolaas G.J. Jaspers, Rob Desire F.M. Taalman, Carla C. Baan; Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am. J. Hum. Genet. 42:66-73(1988) DOI=10.1007/978-1-4757-5016-4_9 Nicolaas G.J. Jaspers, Len Roza, Wim Vermeulen, Andre P.M. Eker, Rob Desire F.M. Taalman, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma; In vitro correction of cells from patients with mutagen hypersensitivity. (In book chapter) DNA damage and repair; Castellani, Amleto (eds.); pp.73-82; Springer; Boston; USA (1989) PubMed=8317483; PMCID=PMC1682247 Wim Vermeulen, Jaak Jaeken, Nicolaas G.J. Jaspers, Dirk Bootsma, Jan Hendrik Jozef Hoeijmakers; Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am. J. Hum. Genet. 53:185-192(1993) PubMed=7671243 Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res. 55:4325-4332(1995) PubMed=8823375; DOI=10.1111/1523-1747.ep12584287 Shin-ichi Moriwaki, Miria Stefanini, Alan R. Lehmann, Jan Hendrik Jozef Hoeijmakers, Jay H. Robbins, Isabelle Rapin, Elena Botta, Bianca Tanganelli, Wim Vermeulen, Bernard C. Broughton, Kenneth H. Kraemer; DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells. J. Invest. Dermatol. 107:647-653(1996) PubMed=9012405; PMCID=PMC1712398 Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin; A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet. 60:320-329(1997) PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x Anneke M. Sijbers, Pieter C. van Voorst Vader, Jos W. Snoek, Anja Raams, Nicolaas G.J. Jaspers, Wim J. Kleijer; Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J. Invest. Dermatol. 110:832-836(1998) PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x Steffen Emmert, Hanoch Slor, David B. Busch, Sima Batko, Roberta B. Albert, Donna M. Coleman, Sikandar G. Khan, Bassam Abu-Libdeh, John Joseph DiGiovanna, Bari Bickel Cunningham, Myung-Moo Lee ...Show all 19 authors... , Jill Crollick, Hiroki Inui, Takahiro Ueda, Mohammad Hedayati, Lawrence Grossman, Tala Shahlavi, James Edward Cleaver, Kenneth H. Kraemer; Show fewer authors Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J. Invest. Dermatol. 118:972-982(2002) PubMed=14688028; DOI=10.1093/carcin/bgh046 Stephane Arbault, Neso Sojic, Delphine Bruce, Christian Amatore, Alain Sarasin, Monique Vuillaume; Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes. Carcinogenesis 25:509-515(2004) PubMed=15220921; DOI=10.1038/ng1387 Giuseppina Giglia-Mari, Frederic Coin, Jeffrey A. Ranish, Deborah Hoogstraten, Arjan F. Theil, Nils Wijgers, Nicolaas G.J. Jaspers, Anja Raams, Manuela Argentini, Peter J. van der Spek, Elena Botta ...Show all 16 authors... , Miria Stefanini, Jean-Marc Egly, Rudolf Aebersold, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen; Show fewer authors A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat. Genet. 36:714-719(2004) PubMed=17273966; DOI=10.1086/512486; PMCID=PMC1821117 Nicolaas G.J. Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen; 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. Am. J. Hum. Genet. 80:457-466(2007) PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669 Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer; Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. PLoS Genet. 6:e1000871.1-e1000871.11(2010) PubMed=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936 Arjan F. Theil, Elena Botta, Anja Raams, Desiree E.C. Smith, Marisa I. Mendes, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Roberta Carriero, Giordano Liberi, Luca Zardoni ...Show all 20 authors... , Sigrid M.A. Swagemakers, Gajja S. Salomons, Alain Sarasin, Alan R. Lehmann, Peter J. van der Spek, Tomoo Ogi, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Donata Orioli; Show fewer authors Bi-allelic TARS mutations are associated with brittle hair phenotype. Am. J. Hum. Genet. 105:434-440(2019) |