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Page 1
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: dorresteijn em. 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 Free PMC article.
Modeling complement activation on human glomerular microvascular endothelial cells.
Stevens KH, Baas LM, van der Velden TJAM, Bouwmeester RN, van Dillen N, Dorresteijn EM, van Zuilen AD, Wetzels JFM, Michels MAHM, van de Kar NCAJ, van den Heuvel LP. Stevens KH, et al. Among authors: dorresteijn em. Front Immunol. 2023 Oct 25;14:1206409. doi: 10.3389/fimmu.2023.1206409. eCollection 2023. Front Immunol. 2023. PMID: 37954621 Free PMC article.
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
Michels MAHM, Wijnsma KL, Kurvers RAJ, Westra D, Schreuder MF, van Wijk JAE, Bouts AHM, Gracchi V, Engels FAPT, Keijzer-Veen MG, Dorresteijn EM, Volokhina EB, van den Heuvel LPWJ, van de Kar NCAJ. Michels MAHM, et al. Among authors: dorresteijn em. Pediatr Nephrol. 2022 Mar;37(3):601-612. doi: 10.1007/s00467-021-05221-6. Epub 2021 Sep 2. Pediatr Nephrol. 2022. PMID: 34476601 Free PMC article.
Different Aspects of Classical Pathway Overactivation in Patients With C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.
Michels MAHM, van de Kar NCAJ, van Kraaij SAW, Sarlea SA, Gracchi V, Engels FAPT, Dorresteijn EM, van der Deure J, Duineveld C, Wetzels JFM, van den Heuvel LPWJ, Volokhina EB. Michels MAHM, et al. Among authors: dorresteijn em. Front Immunol. 2021 Aug 11;12:715704. doi: 10.3389/fimmu.2021.715704. eCollection 2021. Front Immunol. 2021. PMID: 34456924 Free PMC article.
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV. de Baaij JH, et al. Among authors: dorresteijn em. Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11. Nephrol Dial Transplant. 2015. PMID: 25765846 Free article.
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