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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: demoulin n. 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
Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.
Rowczenio D, Stensland M, de Souza GA, Strøm EH, Gilbertson JA, Taylor G, Rendell N, Minogue S, Efebera YA, Lachmann HJ, Wechalekar AD, Hawkins PN, Heimdal KR, Selvig K, Lægreid IK, Demoulin N, Aydin S, Gillmore JD, Wien TN. Rowczenio D, et al. Among authors: demoulin n. Kidney Int Rep. 2016 Nov 19;2(3):461-469. doi: 10.1016/j.ekir.2016.11.005. eCollection 2017 May. Kidney Int Rep. 2016. PMID: 29142973 Free PMC article.
The Case | Acute renal failure and a "rejuvenating powder".
Borceux P, Aydin S, Demoulin N, Devresse A. Borceux P, et al. Among authors: demoulin n. Kidney Int. 2020 Jan;97(1):219-220. doi: 10.1016/j.kint.2019.06.008. Kidney Int. 2020. PMID: 31901348 Free article. No abstract available.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Olinger E, et al. Among authors: demoulin n. Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450155 Free article.
Etiologies, Clinical Features, and Outcome of Oxalate Nephropathy.
Buysschaert B, Aydin S, Morelle J, Gillion V, Jadoul M, Demoulin N. Buysschaert B, et al. Among authors: demoulin n. Kidney Int Rep. 2020 Jul 2;5(9):1503-1509. doi: 10.1016/j.ekir.2020.06.021. eCollection 2020 Sep. Kidney Int Rep. 2020. PMID: 32954074 Free PMC article.
Granulomatous vasculitis after the AstraZeneca anti-SARS-CoV-2 vaccine.
Gillion V, Jadoul M, Demoulin N, Aydin S, Devresse A. Gillion V, et al. Among authors: demoulin n. Kidney Int. 2021 Sep;100(3):706-707. doi: 10.1016/j.kint.2021.06.033. Epub 2021 Jul 5. Kidney Int. 2021. PMID: 34237323 Free PMC article. No abstract available.
64 results