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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: duran k. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study; Scott RH, van Gassen KLI, Bakkers J, van Haaften G. Tessadori F, et al. Among authors: duran k. Nat Genet. 2017 Nov;49(11):1642-1646. doi: 10.1038/ng.3956. Epub 2017 Sep 18. Nat Genet. 2017. PMID: 28920961
Further confirmation of the MED13L haploinsufficiency syndrome.
van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. van Haelst MM, et al. Among authors: duran k. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781760 Free PMC article.
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: duran kj, duran m. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
van Eerde AM, Duran K, van Riel E, de Kovel CG, Koeleman BP, Knoers NV, Renkema KY, van der Horst HJ, Bökenkamp A, van Hagen JM, van den Berg LH, Wolffenbuttel KP, van den Hoek J, Feitz WF, de Jong TP, Giltay JC, Wijmenga C. van Eerde AM, et al. Among authors: duran k. PLoS One. 2012;7(4):e31327. doi: 10.1371/journal.pone.0031327. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558067 Free PMC article.
70 results