Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

. 2016 Jan 07 ; 11 (1) : 6-8. [epub] 20151218

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu úvodníky, Research Support, N.I.H., Extramural, komentáře

Perzistentní odkaz   https://www.medvik.cz/link/pmid26683889

Grantová podpora
R21 DK106584 NIDDK NIH HHS - United States
LH12015 PHS HHS - United States
R21 DK106584-01 NIDDK NIH HHS - United States

Komentář

PubMed

Komentář

PubMed

Zobrazit více v PubMed

Pruijm M, Pnte B, Ackermann D, Paccaud F, Guessous I, Ehret G, Pechère-Bertschi A, Vogt B, Mohaupt MG, Martin P-Y, Youhanna SC, Nägele N, Vollenweider P, Waeber G, Burnier M, Devuyst O, Bochud M: Associations of urinary uromodulin with clinical characteristics and markers of tubular function in the general population. Clin J Am Soc Nephrol 11: 70–80, 2016 PubMed PMC

Troyanov S, Delmas-Frenette C, Bollee G, Youhanna S, Bruat V, Awadalla P, Devuyst O, Madore F: Clinical, genetic, and urinary factors associated with uromodulin excretion. Clin J Am Soc Nephrol 11: 62–69, 2016 PubMed PMC

Hoyer JR, Sisson SP, Vernier RL: Tamm-Horsfall glycoprotein: Ultrastructural immunoperoxidase localization in rat kidney. Lab Invest 41: 168–173, 1979 PubMed

Vyletal P, Bleyer AJ, Kmoch S: Uromodulin biology and pathophysiology--an update. Kidney Blood Press Res 33: 456–475, 2010 PubMed

Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, Rampoldi L: Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. Biochem Biophys Res Commun 370: 410–413, 2008 PubMed

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882–892, 2002 PubMed PMC

Bleyer AJ, Woodard AS, Shihabi Z, Sandhu J, Zhu H, Satko SG, Weller N, Deterding E, McBride D, Gorry MC, Xu L, Ganier D, Hart TC: Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int 64: 36–42, 2003 PubMed

Vylet’al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S: Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 70: 1155–1169, 2006 PubMed

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: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12: 3369–3384, 2003 PubMed

Mutig K, Kahl T, Saritas T, Godes M, Persson P, Bates J, Raffi H, Rampoldi L, Uchida S, Hille C, Dosche C, Kumar S, Castañeda-Bueno M, Gamba G, Bachmann S: Activation of the bumetanide-sensitive Na+,K+,2Cl- cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner. J Biol Chem 286: 30200–30210, 2011 PubMed PMC

Köttgen A, Glazer NL, Dehghan A, Hwang SJ, Katz R, Li M, Yang Q, Gudnason V, Launer LJ, Harris TB, Smith AV, Arking DE, Astor BC, Boerwinkle E, Ehret GB, Ruczinski I, Scharpf RB, Chen YD, de Boer IH, Haritunians T, Lumley T, Sarnak M, Siscovick D, Benjamin EJ, Levy D, Upadhyay A, Aulchenko YS, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Chasman DI, Paré G, Ridker PM, Kao WH, Witteman JC, Coresh J, Shlipak MG, Fox CS: Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 41: 712–717, 2009 PubMed PMC

Reznichenko A, Böger CA, Snieder H, van den Born J, de Borst MH, Damman J, van Dijk MC, van Goor H, Hepkema BG, Hillebrands JL, Leuvenink HG, Niesing J, Bakker SJ, Seelen M, Navis G; REGaTTA (REnal GeneTics TrAnsplantation) Groningen group: UMOD as a susceptibility gene for end-stage renal disease. BMC Med Genet 13: 78, 2012 PubMed PMC

Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d’Ancona FC, den Heijer M, Wetzels JF, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K: Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS Genet 6: e1001039, 2010 PubMed PMC

Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, Citterio L, Demaretz S, Trevisani F, Ristagno G, Glaudemans B, Laghmani K, Dell’Antonio G, Loffing J, Rastaldi MP, Manunta P, Devuyst O, Rampoldi L; Swiss Kidney Project on Genes in Hypertension (SKIPOGH) team: Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med 19: 1655–1660, 2013 PubMed PMC

Möllsten A, Torffvit O: Tamm-Horsfall protein gene is associated with distal tubular dysfunction in patients with type 1 diabetes. Scand J Urol Nephrol 44: 438–444, 2010 PubMed

Robles NR, Villa J, Gallego RH: Non-proteinuric diabetic nephropathy. J Clin Med 4: 1761–1773, 2015 PubMed PMC

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...