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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study; Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM. Josifova DJ, et al. Among authors: de graaff e. Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27005418
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: de graaff e, de coo rf. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.
Kevenaar JT, Bianchi S, van Spronsen M, Olieric N, Lipka J, Frias CP, Mikhaylova M, Harterink M, Keijzer N, Wulf PS, Hilbert M, Kapitein LC, de Graaff E, Ahkmanova A, Steinmetz MO, Hoogenraad CC. Kevenaar JT, et al. Among authors: de graaff e. Curr Biol. 2016 Apr 4;26(7):849-61. doi: 10.1016/j.cub.2016.01.048. Epub 2016 Mar 3. Curr Biol. 2016. PMID: 26948876 Free article.
84 results