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Page 1
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.
Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Braun DA, et al. Among authors: sayer ja. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715. Epub 2016 Jan 19. Clin J Am Soc Nephrol. 2016. PMID: 26787776 Free PMC article.
The genetics of nephrolithiasis.
Sayer JA. Sayer JA. Nephron Exp Nephrol. 2008;110(2):e37-43. doi: 10.1159/000151730. Epub 2008 Sep 1. Nephron Exp Nephrol. 2008. PMID: 18758188 Review.
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.
Clinical and functional characterization of URAT1 variants.
Tasic V, Hynes AM, Kitamura K, Cheong HI, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA. Tasic V, et al. Among authors: sayer ja. PLoS One. 2011;6(12):e28641. doi: 10.1371/journal.pone.0028641. Epub 2011 Dec 16. PLoS One. 2011. PMID: 22194875 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.
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. Roberson EC, et al. Among authors: sayer ja. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087. J Cell Biol. 2015. PMID: 25869670 Free PMC article.
245 results