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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.
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Among authors: niedernhofer lj. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH. Niedernhofer LJ, et al. Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456. Nature. 2006. PMID: 17183314
Fanconi anemia (cross)linked to DNA repair.
Niedernhofer LJ, Lalai AS, Hoeijmakers JH. Niedernhofer LJ, et al. Cell. 2005 Dec 29;123(7):1191-8. doi: 10.1016/j.cell.2005.12.009. Cell. 2005. PMID: 16377561 Free article. Review.
ERCC1-XPF endonuclease facilitates DNA double-strand break repair.
Ahmad A, Robinson AR, Duensing A, van Drunen E, Beverloo HB, Weisberg DB, Hasty P, Hoeijmakers JH, Niedernhofer LJ. Ahmad A, et al. Among authors: niedernhofer lj. Mol Cell Biol. 2008 Aug;28(16):5082-92. doi: 10.1128/MCB.00293-08. Epub 2008 Jun 9. Mol Cell Biol. 2008. PMID: 18541667 Free PMC article.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
Ahmad A, Enzlin JH, Bhagwat NR, Wijgers N, Raams A, Appledoorn E, Theil AF, J Hoeijmakers JH, Vermeulen W, J Jaspers NG, Schärer OD, Niedernhofer LJ. Ahmad A, et al. Among authors: niedernhofer lj. PLoS Genet. 2010 Mar 5;6(3):e1000871. doi: 10.1371/journal.pgen.1000871. PLoS Genet. 2010. PMID: 20221251 Free PMC article.
198 results