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2006 1
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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. 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
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H, Naim M, Senum SR, AlSahow A, Bahbahani Y, Abu-Farha M, Abubaker J, Mohammad A, Al-Hunayan A, Asbeutah AM, Zayed M, Devarajan S, Hussain N, John SE, Channanath A, Thanaraj TA, Al-Ali M, AlMousawi M, Al-Mulla F, Harris PC. Ali H, et al. Clin Kidney J. 2022 Oct 28;16(2):355-366. doi: 10.1093/ckj/sfac236. eCollection 2023 Feb. Clin Kidney J. 2022. PMID: 36755831 Free PMC article.
Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation.
Gregory AV, Chebib FT, Poudyal B, Holmes HL, Yu ASL, Landsittel DP, Bae KT, Chapman AB, Frederic RO, Mrug M, Bennett WM, Harris PC, Erickson BJ, Torres VE, Kline TL. Gregory AV, et al. Kidney Int. 2023 Aug;104(2):334-342. doi: 10.1016/j.kint.2023.01.010. Epub 2023 Feb 1. Kidney Int. 2023. PMID: 36736536 Free article.
81 results