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Page 1
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: sayer ja. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
Schäfer T, Pütz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Schäfer T, et al. Among authors: sayer ja. Hum Mol Genet. 2008 Dec 1;17(23):3655-62. doi: 10.1093/hmg/ddn260. Epub 2008 Aug 23. Hum Mol Genet. 2008. PMID: 18723859 Free PMC article.
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: sayer ja. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.
Genetic testing can resolve diagnostic confusion in Alport syndrome.
Adam J, Connor TM, Wood K, Lewis D, Naik R, Gale DP, Sayer JA. Adam J, et al. Among authors: sayer ja. Clin Kidney J. 2014 Apr;7(2):197-200. doi: 10.1093/ckj/sft144. Epub 2013 Dec 18. Clin Kidney J. 2014. PMID: 24944784 Free PMC article.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S, Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA. Hynes AM, et al. Among authors: sayer ja. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9893-8. doi: 10.1073/pnas.1322373111. Epub 2014 Jun 19. Proc Natl Acad Sci U S A. 2014. PMID: 24946806 Free PMC article.
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Halbritter J, et al. Among authors: sayer ja. J Am Soc Nephrol. 2015 Mar;26(3):543-51. doi: 10.1681/ASN.2014040388. Epub 2014 Oct 8. J Am Soc Nephrol. 2015. PMID: 25296721 Free PMC article.
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA. Edwards N, et al. Among authors: sayer ja. Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5. Clin Kidney J. 2015. PMID: 25713721 Free PMC article.
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ. Rhodes HL, et al. Among authors: sayer ja. Clin J Am Soc Nephrol. 2015 Jul 7;10(7):1235-45. doi: 10.2215/CJN.10981114. Epub 2015 May 11. Clin J Am Soc Nephrol. 2015. PMID: 25964309 Free PMC article.
233 results