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Page 1
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der flier m, van der burg m. Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 24027040 Free PMC article.
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ. Noordzij JG, et al. Among authors: van dongen jj, van gent dc, van veelen lr, van der burg m. Blood. 2003 Feb 15;101(4):1446-52. doi: 10.1182/blood-2002-01-0187. Epub 2002 Oct 24. Blood. 2003. PMID: 12406895 Free article.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc, van veelen lr. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.
Non-homologous end-joining, a sticky affair.
van Gent DC, van der Burg M. van Gent DC, et al. Among authors: van der burg m. Oncogene. 2007 Dec 10;26(56):7731-40. doi: 10.1038/sj.onc.1210871. Oncogene. 2007. PMID: 18066085 Review.
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. J Clin Invest. 2009 Jan;119(1):91-8. doi: 10.1172/JCI37141. Epub 2008 Dec 15. J Clin Invest. 2009. PMID: 19075392 Free PMC article.
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Curr Opin Allergy Clin Immunol. 2009. PMID: 19823081 Review.
113 results