Dr. Arjan F. Theil received his PhD in 2014 from the Erasmus University Medical Centre in Rotterdam, The Netherlands, where he studied mammalian nucleotide excision repair (NER) and biological function of a several key NER proteins.
Currently, he works as a staff scientist in the group of Prof.Dr. Wim Vermeulen at the Department of Molecular Genetics & Oncode Institute, Erasmus University Medical Centre, Rotterdam, The Netherlands. His work is focused on dissecting the molecular mechanism and regulation of DNA repair pathway nucleotide excision repair (NER). In addition, he studies the biological consequences of pathogenic mutations in NER and NER-related genes and their impact on health and disease by cell biological analysis of patient-derived cell lines.
Dr. Arjan F. Theil is also consultant scientist for the multi-disciplinary clinic for DNA repair syndromes at the Erasmus Medical Centre, Rotterdam, The Netherlands. Our service includes next to certified diagnostic tests (Dept. of Clinical Genetics) also research-based genetic analysis and functional studies for syndromes with inherited defects in DNA repair processes, offered to clinicians and researchers around the world. For more information, see this page.
Recent publications:
Ribeiro-Silva C, Sabatella M, Helfricht A, Marteijn JA, Theil AF, Vermeulen W, Lans H (2020) Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair. Nat Commun 11:4868 PDF
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D (2019) Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am J Hum Genet. 105:434-440 PDF
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS (2019) Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Am J Hum Genet. 104:520-529 PDF
Sabatella M, Theil AF, Ribeiro-Silva C, Slyskova J, Thijssen K, Voskamp C, Lans H, Vermeulen W (2018) Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. Nucleic Acids Res 46:9563-9577 PDF
Menoni H, Wienholz F, Theil AF, Janssens RC, Lans H, Campalans A, Radicella JP, Marteijn JA, Vermeulen W (2018) The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage. Nucleic Acids Res. 46:7747-7756 PDF
Popp I, Punekar M, Telford N, Stivaros S, Chandler K, Minnis M, Castleton A, Higham C, Hopewell L, Gareth Evans D, Raams A, Theil AF, Meyer S, Schindler D.(2018) Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF BMC Med Genet. 11:7 PDF
Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wüst T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W (2017) Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue Hum Mol Genet. 26:4689-4698.. PDF