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4. Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease. Smith LA; Bukanov NO; Husson H; Russo RJ; Barry TC; Taylor AL; Beier DR; Ibraghimov-Beskrovnaya O J Am Soc Nephrol; 2006 Oct; 17(10):2821-31. PubMed ID: 16928806 [TBL] [Abstract][Full Text] [Related]
5. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. Otto EA; Trapp ML; Schultheiss UT; Helou J; Quarmby LM; Hildebrandt F J Am Soc Nephrol; 2008 Mar; 19(3):587-92. PubMed ID: 18199800 [TBL] [Abstract][Full Text] [Related]
6. 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; ; 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 Kidney Int; 2023 Nov; 104(5):995-1007. PubMed ID: 37598857 [TBL] [Abstract][Full Text] [Related]
7. Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. Manning DK; Sergeev M; van Heesbeen RG; Wong MD; Oh JH; Liu Y; Henkelman RM; Drummond I; Shah JV; Beier DR J Am Soc Nephrol; 2013 Jan; 24(1):100-12. PubMed ID: 23274954 [TBL] [Abstract][Full Text] [Related]
8. Nek8 regulates the expression and localization of polycystin-1 and polycystin-2. Sohara E; Luo Y; Zhang J; Manning DK; Beier DR; Zhou J J Am Soc Nephrol; 2008 Mar; 19(3):469-76. PubMed ID: 18235101 [TBL] [Abstract][Full Text] [Related]
9. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. Bondeson ML; Ericson K; Gudmundsson S; Ameur A; Pontén F; Wesström J; Frykholm C; Wilbe M Clin Genet; 2017 Nov; 92(5):510-516. PubMed ID: 28295209 [TBL] [Abstract][Full Text] [Related]
10. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Rajagopalan R; Grochowski CM; Gilbert MA; Falsey AM; Coleman K; Romero R; Loomes KM; Piccoli DA; Devoto M; Spinner NB Am J Med Genet A; 2016 Mar; 170(3):750-3. PubMed ID: 26697755 [TBL] [Abstract][Full Text] [Related]
11. Defects in ciliary localization of Nek8 is associated with cystogenesis. Trapp ML; Galtseva A; Manning DK; Beier DR; Rosenblum ND; Quarmby LM Pediatr Nephrol; 2008 Mar; 23(3):377-87. PubMed ID: 18189147 [TBL] [Abstract][Full Text] [Related]
12. The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. Habbig S; Bartram MP; Sägmüller JG; Griessmann A; Franke M; Müller RU; Schwarz R; Hoehne M; Bergmann C; Tessmer C; Reinhardt HC; Burst V; Benzing T; Schermer B Hum Mol Genet; 2012 Dec; 21(26):5528-38. PubMed ID: 23026745 [TBL] [Abstract][Full Text] [Related]
13. NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. Choi HJ; Lin JR; Vannier JB; Slaats GG; Kile AC; Paulsen RD; Manning DK; Beier DR; Giles RH; Boulton SJ; Cimprich KA Mol Cell; 2013 Aug; 51(4):423-39. PubMed ID: 23973373 [TBL] [Abstract][Full Text] [Related]
14. A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. McCooke JK; Appels R; Barrero RA; Ding A; Ozimek-Kulik JE; Bellgard MI; Morahan G; Phillips JK BMC Genomics; 2012 Aug; 13():393. PubMed ID: 22899815 [TBL] [Abstract][Full Text] [Related]
15. The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. Fukui H; Shiba D; Asakawa K; Kawakami K; Yokoyama T FEBS Lett; 2012 Jul; 586(16):2273-9. PubMed ID: 22687244 [TBL] [Abstract][Full Text] [Related]
16. An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Stayner C; Poole CA; McGlashan SR; Pilanthananond M; Brauning R; Markie D; Lett B; Slobbe L; Chae A; Johnstone AC; Jensen CG; McEwan JC; Dittmer K; Parker K; Wiles A; Blackburne W; Leichter A; Leask M; Pinnapureddy A; Jennings M; Horsfield JA; Walker RJ; Eccles MR Sci Rep; 2017 May; 7(1):1601. PubMed ID: 28487520 [TBL] [Abstract][Full Text] [Related]
17. The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. Zalli D; Bayliss R; Fry AM Hum Mol Genet; 2012 Mar; 21(5):1155-71. PubMed ID: 22106379 [TBL] [Abstract][Full Text] [Related]
18. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Hoff S; Halbritter J; Epting D; Frank V; Nguyen TM; van Reeuwijk J; Boehlke C; Schell C; Yasunaga T; Helmstädter M; Mergen M; Filhol E; Boldt K; Horn N; Ueffing M; Otto EA; Eisenberger T; Elting MW; van Wijk JA; Bockenhauer D; Sebire NJ; Rittig S; Vyberg M; Ring T; Pohl M; Pape L; Neuhaus TJ; Elshakhs NA; Koon SJ; Harris PC; Grahammer F; Huber TB; Kuehn EW; Kramer-Zucker A; Bolz HJ; Roepman R; Saunier S; Walz G; Hildebrandt F; Bergmann C; Lienkamp SS Nat Genet; 2013 Aug; 45(8):951-6. PubMed ID: 23793029 [TBL] [Abstract][Full Text] [Related]
19. Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Shiba D; Manning DK; Koga H; Beier DR; Yokoyama T Cytoskeleton (Hoboken); 2010 Feb; 67(2):112-9. PubMed ID: 20169535 [TBL] [Abstract][Full Text] [Related]
20. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Barrie ES; Overwater E; van Haelst MM; Motazacker MM; Truxal KV; Crist E; Mostafavi R; Pivnick EK; Choudhri AF; Narumanchi T; Castelluccio V; Walsh LE; Garganta C; Gastier-Foster JM Am J Med Genet A; 2020 May; 182(5):1201-1208. PubMed ID: 32100459 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]