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Page 1
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W. Botta E, et al. Among authors: raams a. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123. Hum Mol Genet. 2021. PMID: 33909043 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: raams a. 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.
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT. Andressoo JO, et al. Among authors: raams a. Cancer Cell. 2006 Aug;10(2):121-32. doi: 10.1016/j.ccr.2006.05.027. Cancer Cell. 2006. PMID: 16904611 Free 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. Among authors: raams a. 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: raams a. 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.
51 results