Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
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Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic developmentUromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionThe genetics of hyperuricaemia and goutA novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyKidney disease: new technologies translate mechanisms to cureSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansProtein trafficking defects in inherited kidney diseasesUromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney diseaseRenal effects of Tamm-Horsfall protein (uromodulin) deficiency in micePopulation ancestry and genetic risk for diabetes and kidney, cardiovascular, and bone disease: modifiable environmental factors may produce the curesLoss of PKD1 and loss of Bcl-2 elicit polycystic kidney disease through distinct mechanismsMultiple loci associated with indices of renal function and chronic kidney diseaseAssociation of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseasesGenome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in PatientsCommon noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expressionUrinary uromodulin excretion predicts progression of chronic kidney disease resulting from IgA nephropathy.A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Uromodulin levels associate with a common UMOD variant and risk for incident CKD.Diagnosis and screening of autosomal dominant polycystic kidney disease.A comparative analysis of gene-expression data of multiple cancer types.Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its functionDevelopment of next generation sequencing panel for UMOD and association with kidney disease.A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.Exploration of the disease locus by a careful evaluation of the likelihood polynomial for pedigree data.Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.Shotgun proteomics identifies proteins specific for acute renal transplant rejection.Common variants in UMOD associate with urinary uromodulin levels: a meta-analysisRare inherited kidney diseases: challenges, opportunities, and perspectives.Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.Tamm-horsfall protein protects against urinary tract infection by proteus mirabilisThe population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.Exploring the genetic basis of early-onset chronic kidney disease.Proteomic analysis of acute kidney injury: biomarkers to mechanismsHereditary interstitial kidney diseaseChildhood course of renal insufficiency in a family with a uromodulin gene mutation.
P2860
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P2860
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
description
2002 nî lūn-bûn
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2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2002年の論文
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2002年学术文章
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2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
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2002年学术文章
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2002年學術文章
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name
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@ast
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@en
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@nl
type
label
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@ast
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@en
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@nl
prefLabel
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@ast
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@en
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@nl
P2093
P2860
P3181
P356
P1476
Mutations of the UMOD gene are ...... ile hyperuricaemic nephropathy
@en
P2093
A J Bleyer
A S Woodard
M M Barmada
P2860
P304
P3181
P356
10.1136/JMG.39.12.882
P407
P577
2002-12-01T00:00:00Z