Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene
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Molecular physiology of urate transportUromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionChronic urate nephropathy with a disproportionated elevation in serum uric acid.Hereditary interstitial kidney diseaseChildhood course of renal insufficiency in a family with a uromodulin gene mutation.Mild chronic renal failure with a family history of kidney disease.Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutationsCystic kidney diseases: many ways to form a cyst.Hints to the diagnosis of uromodulin kidney disease.Autosomal Dominant Tubulointerstitial Kidney Disease.Role of renal transporters and novel regulatory interactions in the TAL that control blood pressure.No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease.Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism.Production and characterization of transgenic mice harboring mutant human UMOD gene.Nonmuscle myosin 2 proteins encoded by Myh9, Myh10, and Myh14 are uniquely distributed in the tubular segments of murine kidney.Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
P2860
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P2860
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@ast
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@en
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@nl
type
label
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@ast
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@en
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@nl
prefLabel
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@ast
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@en
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@nl
P2093
P1433
P1476
Clinical characterization of a ...... mm-Horsfall glycoprotein) gene
@en
P2093
Anthony J Bleyer
Arch S Woodard
Deann Ganier
Debra McBride
Elizabeth Deterding
Honping Zhu
Jaspreet Sandhu
Michael C Gorry
Nelson Weller
P356
10.1046/J.1523-1755.2003.00081.X
P407
P577
2003-07-01T00:00:00Z
P5875
P6179
1003038319