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Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
Helfricht A, Thijssen PE, Rother MB, Shah RG, Du L, Takada S, Rogier M, Moritz J, IJspeert H, Stoepker C, van Ostaijen-Ten Dam MM, Heyer V, Luijsterburg MS, de Groot A, Jak R, Grootaers G, Wang J, Rao P, Vertegaal ACO, van Tol MJD, Pan-Hammarström Q, Reina-San-Martin B, Shah GM, van der Burg M, van der Maarel SM, van Attikum H. Helfricht A, et al. Among authors: wang j. J Exp Med. 2020 Nov 2;217(11):e20191688. doi: 10.1084/jem.20191688. J Exp Med. 2020. PMID: 32865561 Free PMC article.
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: wang j. 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.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: wang j. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: wang j. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Nat Commun. 2015. PMID: 26216346 Free PMC article.
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: wang j. Nat Commun. 2016 Jun 22;7:12003. doi: 10.1038/ncomms12003. Nat Commun. 2016. PMID: 27328760 Free PMC article. No abstract available.
Dysferlin regulates cell adhesion in human monocytes.
de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM. de Morrée A, et al. Among authors: wang j. J Biol Chem. 2013 May 17;288(20):14147-14157. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4. J Biol Chem. 2013. PMID: 23558685 Free PMC article.
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