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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: swagemakers sma. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B-cell precursor acute lymphoblastic leukaemia.
van der Velden VH, de Launaij D, de Vries JF, de Haas V, Sonneveld E, Voerman JS, de Bie M, Revesz T, Avigad S, Yeoh AE, Swagemakers SM, Eckert C, Pieters R, van Dongen JJ. van der Velden VH, et al. Br J Haematol. 2016 Mar;172(5):769-81. doi: 10.1111/bjh.13887. Epub 2015 Dec 21. Br J Haematol. 2016. PMID: 26898195 Free article.
The Rad51 paralog Rad51B promotes homologous recombinational repair.
Takata M, Sasaki MS, Sonoda E, Fukushima T, Morrison C, Albala JS, Swagemakers SM, Kanaar R, Thompson LH, Takeda S. Takata M, et al. Mol Cell Biol. 2000 Sep;20(17):6476-82. doi: 10.1128/MCB.20.17.6476-6482.2000. Mol Cell Biol. 2000. PMID: 10938124 Free PMC article.
76 results