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Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: van der burg m. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC 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.
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EA, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M. van Zelm MC, et al. Among authors: van dongen jj, van der burg m. Am J Hum Genet. 2008 Feb;82(2):320-32. doi: 10.1016/j.ajhg.2007.10.011. Am J Hum Genet. 2008. PMID: 18252213 Free PMC article.
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.
A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.
Wiegant WW, Meyers M, Verkaik NS, van der Burg M, Darroudi F, Romeijn R, Bernatowska E, Wolska-Kusnierz B, Mikoluc B, Jaspers NG, Vreeken C, Ijspeert H, Esveldt-van Lange RE, Friedl AA, de Villartay JP, Mullenders LH, van Dongen JJ, van Gent DC, Pastink A, Zdzienicka MZ. Wiegant WW, et al. Among authors: van dongen jj, van gent dc, van der burg m. DNA Repair (Amst). 2010 Apr 4;9(4):365-73. doi: 10.1016/j.dnarep.2009.12.004. Epub 2010 Jan 15. DNA Repair (Amst). 2010. PMID: 20079696
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. Among authors: van dongen jj, van der flier m, van der burg m, van zelm mc, van deuren m. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
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.
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418478 Free PMC article.
443 results