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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. Among authors: kleijer wj. Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456. Nature. 2006. PMID: 17183314
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: kleijer wj. 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.
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Broughton BC, Cordonnier A, Kleijer WJ, Jaspers NG, Fawcett H, Raams A, Garritsen VH, Stary A, Avril MF, Boudsocq F, Masutani C, Hanaoka F, Fuchs RP, Sarasin A, Lehmann AR. Broughton BC, et al. Among authors: kleijer wj. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):815-20. doi: 10.1073/pnas.022473899. Epub 2002 Jan 2. Proc Natl Acad Sci U S A. 2002. PMID: 11773631 Free PMC article.
Molecular basis of androgen insensitivity.
Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO. Brüggenwirth HT, et al. Among authors: kleijer wj. J Steroid Biochem Mol Biol. 1996 Aug;58(5-6):569-75. doi: 10.1016/0960-0760(96)00095-7. J Steroid Biochem Mol Biol. 1996. PMID: 8918984
209 results