A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
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CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemiaUromodulin 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 miceCommon noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expressionA novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.Uromodulin levels associate with a common UMOD variant and risk for incident CKD.Uric acid as one of the important factors in multifactorial disorders--facts and controversies.A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.Common variants in UMOD associate with urinary uromodulin levels: a meta-analysisThick ascending limb of the loop of Henle.Childhood course of renal insufficiency in a family with a uromodulin gene mutation.New and improved strategies for the treatment of goutMutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)Mild chronic renal failure with a family history of kidney disease.Recent developments in our understanding of the renal basis of hyperuricemia and the development of novel antihyperuricemic therapeuticsCharacterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failureMolecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones.Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutationsEpidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.Urinary uromodulin, kidney function, and cardiovascular disease in elderly adults.Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.Clinical, Genetic, and Urinary Factors Associated with Uromodulin ExcretionUromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.Association between genotype and phenotype in uromodulin-associated kidney disease.First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD.Plasma Uromodulin Correlates With Kidney Function and Identifies Early Stages in Chronic Kidney Disease Patients.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.Uromodulin: from monogenic to multifactorial diseases.An approach to cystic kidney diseases: the clinician's view.Antihyperuricemic and nephroprotective effects of resveratrol and its analogues in hyperuricemic mice.Uromodulin: from physiology to rare and complex kidney disorders.Activation of the bumetanide-sensitive Na+,K+,2Cl- cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive mannerFrom juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.Ways of calcium reabsorption in the kidney.The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.
P2860
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P2860
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A cluster of mutations in the ...... rmal expression of uromodulin.
@en
A cluster of mutations in the ...... rmal expression of uromodulin.
@nl
type
label
A cluster of mutations in the ...... rmal expression of uromodulin.
@en
A cluster of mutations in the ...... rmal expression of uromodulin.
@nl
prefLabel
A cluster of mutations in the ...... rmal expression of uromodulin.
@en
A cluster of mutations in the ...... rmal expression of uromodulin.
@nl
P2093
P50
P1476
A cluster of mutations in the ...... rmal expression of uromodulin.
@en
P2093
Béatrice Mougenot
Béatrice Viron
Christian Jacquot
Dominique Chauveau
Jean-Michel Poux
Jean-Pierre Cosyns
Karin Dahan
Marie-France Gagnadoux
Mark H Rider
P304
P356
10.1097/01.ASN.0000092147.83480.B5
P577
2003-11-01T00:00:00Z