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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 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: pasch a. 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.
Serum Calcification Propensity and Clinical Events in CKD.
Bundy JD, Cai X, Mehta RC, Scialla JJ, de Boer IH, Hsu CY, Go AS, Dobre MA, Chen J, Rao PS, Leonard MB, Lash JP, Block GA, Townsend RR, Feldman HI, Smith ER, Pasch A, Isakova T; CRIC Study Investigators. Bundy JD, et al. Among authors: pasch a. Clin J Am Soc Nephrol. 2019 Nov 7;14(11):1562-1571. doi: 10.2215/CJN.04710419. Epub 2019 Oct 28. Clin J Am Soc Nephrol. 2019. PMID: 31658949 Free PMC article.
The case | hypercalcemia in a 60-year-old male.
Helmuth A, Konrad M, Schlingmann KP, Pasch A. Helmuth A, et al. Among authors: pasch a. Kidney Int. 2014 Jan;85(1):219-21. doi: 10.1038/ki.2013.184. Kidney Int. 2014. PMID: 24380919 Free article. No abstract available.
Metabolic syndrome and the risk of calcium stones.
Sakhaee K, Capolongo G, Maalouf NM, Pasch A, Moe OW, Poindexter J, Adams-Huet B. Sakhaee K, et al. Among authors: pasch a. Nephrol Dial Transplant. 2012 Aug;27(8):3201-9. doi: 10.1093/ndt/gfr703. Epub 2012 Jan 13. Nephrol Dial Transplant. 2012. PMID: 22247230 Free PMC article.
148 results