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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: peters e. 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
Nutritional aspects in ultra-endurance exercise.
Peters EM. Peters EM. Curr Opin Clin Nutr Metab Care. 2003 Jul;6(4):427-34. doi: 10.1097/01.mco.0000078986.18774.90. Curr Opin Clin Nutr Metab Care. 2003. PMID: 12806217 Review.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM. Snoek R, et al. Among authors: peters edj. J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. doi: 10.1681/ASN.2017111200. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654215 Free PMC article.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Snoek R, et al. Among authors: peters edj. Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363. Nephrol Dial Transplant. 2022. PMID: 33306124
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.
Groeneweg JW, Roze JF, Peters EDJ, Sereno F, Brink AGJ, Paijens ST, Nijman HW, van Meurs HS, van Lonkhuijzen LRCW, Piek JMJ, Lok CAR, Monroe GR, van Haaften GW, Zweemer RP. Groeneweg JW, et al. Among authors: peters edj. Gynecol Oncol. 2021 Aug;162(2):413-420. doi: 10.1016/j.ygyno.2021.05.027. Epub 2021 Jun 1. Gynecol Oncol. 2021. PMID: 34083028 Free article.
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