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Pennica D, Kohr WJ, Glaister D, Aggarwal BB, Chen EY, Goeddle DV. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 236: 83-88, 1987.","DOI":"10.1126\/science.3453112"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Hart TC, Gorry MC, Hart PS, et al. Mutations of the <i>UMOD<\/i> gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricemic nephropathy. J Med Genet 39: 882-892, 2002.","DOI":"10.1136\/jmg.39.12.882"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Turner JJ, Stacey JM, Harding B, et al. UROMODULIN mutations cause familial juvenil hyperuricemic nephropathy. J Clin Endocrinol Metab 88: 1398-1401, 2003.","DOI":"10.1210\/jc.2002-021973"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Dahan K, Devuyst O, Smaers M, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14: 2883-2893, 2003.","DOI":"10.1097\/01.ASN.0000092147.83480.B5"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kottgen A, Glazer NL, Dehghan A, et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 41: 712-717, 2009.","DOI":"10.1038\/ng.377"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Scolari F, Puzzer D, Amoroso A, et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 64: 1655-1660, 1999.","DOI":"10.1086\/302414"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Christodoulou K, Tsingis M, Stravrou C, et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 7: 905-911, 1998.","DOI":"10.1093\/hmg\/7.5.905"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. 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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 80: 338-347, 2011.","DOI":"10.1038\/ki.2011.134"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Nasr SH, Lucia JP, Galgano SJ, Markowitz GS, D'Agati VD. Uromodulin strage disease. Kidney Int 73: 971-976, 2008.","DOI":"10.1038\/sj.ki.5002679"},{"key":"14","unstructured":"14. Vylet'al P, Kublov&aacute; M, Kalb&aacute;cov&aacute; M, et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN\/MCKD syndrome. Kidney Int 70: 1155-1169, 2006."},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis 42: 658-676, 2003.","DOI":"10.1016\/S0272-6386(03)00829-1"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ma L, Liu Y, Ei-Achkar TM, Wu XR. 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Iseki K, Ikemiya Y, Inoue T, Iseki C, Kinjo K, Takishita S. Significance of hyperuricemia as a risk factor for developing ESRD in a screened cohort. Am J Kidney Dis 44: 642-650, 2004.","DOI":"10.1016\/S0272-6386(04)00934-5"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Bollee G, Dahan K, Flamant M, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to <i>UMOD<\/i> mutations. Clin J Am Soc Nephrol 6: 2429-2438, 2011.","DOI":"10.2215\/CJN.01220211"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Williams SE, Reed AA, Galvanovskis J, et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 18: 2963-2974, 2009.","DOI":"10.1093\/hmg\/ddp235"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Benetti E, Caridi G, Vella MD, et al. Immature renal structures associated with a novel <i>UMOD<\/i> sequence variant. Am J Kidney Dis 53: 327-331, 2009.","DOI":"10.1053\/j.ajkd.2008.08.020"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Zaucke F, Boehnlein JM, Steffens S, et al. Uromodulin is expressed in renal primary cilia and <i>UMOD<\/i> mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 19: 1985-1997, 2010.","DOI":"10.1093\/hmg\/ddq077"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS. A novel <i>UMOD<\/i> mutation (c.187T&gt;C) in a Korean family with juvenile hyperuricemic nephropathy. Ann Lab Med 33: 293-296, 2013.","DOI":"10.3343\/alm.2013.33.4.293"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Rampoldi L, Caridi G, Santon D, et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12: 3369-3384, 2003.","DOI":"10.1093\/hmg\/ddg353"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Kudo E, Kamatani N, Tezuka O, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 65: 1589-1597, 2004.","DOI":"10.1111\/j.1523-1755.2004.00559.x"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Lhotta K, Gehringer A, Jennings P, et al. Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. Clin Nephrol 71: 80-83, 2009.","DOI":"10.5414\/CNP71080"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Bleyer AJ, Trachtman H, Sandhu J, Gorry MC, Hart TC. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. Am J Kidney Dis 42: E20-E26, 2003.","DOI":"10.1016\/S0272-6386(03)00670-X"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Wolf MT, Mucha BE, Attanasio M, et al. Mutations of the <i>Uromodulin<\/i> gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 64: 1580-1587, 2003.","DOI":"10.1046\/j.1523-1755.2003.00269.x"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Nakayama M, Mori Y, Ota N, et al. A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene. Case Rep Nephrol Urol 2: 15-19, 2012.","DOI":"10.1159\/000337343"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Schaffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. Pediatr Nephrol 25: 1355-1360, 2010.","DOI":"10.1007\/s00467-009-1436-y"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Bleyer AJ, Hart TC, Willingham MC, Iskandar SS, Gorry MC, Trachtman H. Clinico-pathologic findings in medullary cystic kidney disease type 2. Pediatr Nephrol 20: 824-827, 2005.","DOI":"10.1007\/s00467-004-1719-2"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. Calado J, Gaspar A, Clemente C, Rueff J. A <i>novel<\/i> heterozygous <i>missense<\/i> mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. BMC Med Genet 6: 5, 2005.","DOI":"10.1186\/1471-2350-6-5"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Lens XM, Banet JF, Outeda P, Barrio-Luc&iacute;a V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 46: 52-57, 2005.","DOI":"10.1053\/j.ajkd.2005.04.003"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Tinschert S, Ruf N, Bernascone I, et al. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricemic nephropathy. 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