Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
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Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionA novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyRenal effects of Tamm-Horsfall protein (uromodulin) deficiency in miceTamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its functionGlomerulocystic kidney diseaseHereditary interstitial kidney diseaseChildhood course of renal insufficiency in a family with a uromodulin gene mutation.Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failurePhenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutationsEpidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.Association between genotype and phenotype in uromodulin-associated kidney disease.Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumUromodulin: old friend with new roles in health and disease.An approach to cystic kidney diseases: the clinician's view.Ways of calcium reabsorption in the kidney.Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism.Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.Modulation of urinary peptidome in humans exposed to high altitude hypoxia
P2860
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P2860
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
description
2003 nî lūn-bûn
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2003年の論文
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name
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@en
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@nl
type
label
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@en
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@nl
prefLabel
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@en
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@nl
P2093
P50
P1433
P1476
Mutations of the Uromodulin ge ...... ncodes three EGF-like domains.
@en
P2093
Arno Fuchshuber
Birgit Bader
Conrad A Baldamus
Friedhelm Hildebrandt
Hartmut P H Neumann
Isabella Zalewski
Matthias T F Wolf
Stephanie M Karle
P304
P356
10.1046/J.1523-1755.2003.00269.X
P407
P577
2003-11-01T00:00:00Z
P5875
P6179
1017439397