| 1 | TRPV5, UMOD
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| Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.
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| Wolf MT, Wu XR, Huang CL.
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| Kidney Int 84(1):130-7. doi: 10.1038/ki.2013.63. Epub 2013 Mar 6.
2013
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| 2 | KCNJ1, UMOD
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| Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
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| Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S.
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| J Biol Chem 286(3):2224-35. Epub 2010 Nov 16.
2011
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| 3 | GCKD2, MCKD2, UMOD
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| Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
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| 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.
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| Hum Mol Genet 19(10):1985-97. Epub 2010 Feb 18. 2010
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| 4 | ALMS1, BCAS3, C17orf82, CEP89, DUSP11, FAAP24, GATM, MYH9, NAT8, SHROOM3, SLC22A2, SLC7A9, TBX2, TPRKB, UMOD
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| Genetic loci influencing kidney function and chronic kidney disease.
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| Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS.
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| Nat Genet 42(5):373-5. Epub 2010 Apr 11. 2010
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| 5 | UMOD
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| Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
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| Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d'Ancona FC, den Heijer M, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K.
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| PLoS Genet 6(7):e1001039.PMID: 20686651 2010
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| 6 | FJHN, UMOD
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| Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
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| Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV.
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| Hum Mol Genet 18(16):2963-74. Epub 2009 May 22.PMID: 19465746 2009
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| 7 | UMOD
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| Immature renal structures associated with a novel UMOD sequence variant.
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| Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L.
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| Am J Kidney Dis 53(2):327-31. Epub 2008 Oct 31.PMID: 18950917 2009
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| 8 | UMOD
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| Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage.
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| Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, Rampoldi L.
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| Biochem Biophys Res Commun 370(3):410-3. Epub 2008 Mar 28.PMID: 1837519 2008
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| 9 | UMOD
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| Tubular function in diabetic children assessed by Tamm-Horsfall protein and glutathione S-transferase.
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| Holmquist P, Torffvit O.
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| Pediatr Nephrol 23(7):1079-83. Epub 2008 Mar 20.PMID: 18351395 2008
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| 10 | UMOD
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| Intact protein core structure is essential for protein-binding, mononuclear cell proliferating, and neutrophil phagocytosis-enhancing activities of normal human urinary Tamm-Horsfall glycoprotein.
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| Wu TH, Hsieh SC, Yu CY, Lee YF, Tsai CY, Yu CL.
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| Int Immunopharmacol 8(1):90-9. Epub 2007 Nov 9.PMID: 18068104 2008
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| 11 | MSR1, SCARB1, SCARF1, UMOD
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| Identification of the scavenger receptors SREC-I, Cla-1 (SR-BI), and SR-AI as cellular receptors for Tamm-Horsfall protein.
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| Pfistershammer K, Klauser C, Leitner J, Stöckl J, Majdic O, Weichhart T, Sobanov Y, Bochkov V, Säemann M, Zlabinger G, Steinberger P.
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| J Leukoc Biol 83(1):131-8. Epub 2007 Oct 10.PMID: 17928461 2008
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| 12 | FJHN, MCKD2, UMOD
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| The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
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| Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F.
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| Kidney Int 71(6):574-81. Epub 2007 Jan 24.
2007
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| 13 | FJHN, UMOD
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| Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.
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| Puig JG, Prior C, Martínez-Ara J, Torres RJ.
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| Nucleosides Nucleotides Nucleic Acids 25(9-11):1295-300.
2006
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| 14 | MCKD2, UMOD, FJHN
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| Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.
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| Rezende-Lima W, Parreira KS, Garcia-Gonzalez M, Riveira E, Banet JF, Lens XM.
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| Kidney Int 66(2):558-63. 2004
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| 15 | OIT3, UMOD, FJHN, GP2
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| Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.
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| Yang H, Wu C, Zhao S, Guo J.
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| FEBS Lett 578(3):236-8. 2004
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| 16 | UMOD, MCKD2
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| Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
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| Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F.
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| Kidney Int 64(5):1580-7. 2003
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| 17 | GCKD2, MCKD2, UMOD
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| Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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| Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G.
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| Hum Mol Genet 12(24):3369-84. Epub 2003 Oct 21.PMID: 14570709 2003
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| 18 | FJHN, MCKD2, UMOD
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| Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
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| Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.
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| J Med Genet 39(12):882-92. 2002
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| 19 | UMOD
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| Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.
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| Jeanpierre C, et al.
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| Cytogenet Cell Genet 62 : 185-187. 1993
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| 20 | UMOD
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| Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
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| Pook MA, et al.
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| Ann Hum Genet 57 : 285-290. 1993
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| 21 | GP2, UMOD
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| GP-2/THP gene family encodes self-binding glycosylphosphatidylinositol-anchored proteins in apical secretory compartments of pancreas and kidney.
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| Fukuoka SI, et al.
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| Proc Natl Acad Sci U S A 89 : 1189-1193. 1992
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| 22 | UMOD
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| Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein.
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| Rindler MJ, Naik SS, Li N, Hoops TC, Peraldi MN.
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| J Biol Chem 265(34):20784-9.PMID: 2249987 1990
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