Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (p.T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family.
|
22776760 |
2012 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified an FJHN patient who carried a novel UMOD mutation G335A (C112Y).
|
25239792 |
2015 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our observations support the hypothesis that ER accumulation of mutant uromodulin may cause ER stress, providing a potential mechanism for the progression of UMOD-related kidney disease.
|
21978600 |
2012 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the UMOD gene cause uromodulin storage disease.
|
20948228 |
2010 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death.
|
15844001 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
|
15673476 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
|
12471200 |
2002 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic uromodulin mutations result in premature intracellular polymerization.
|
25436415 |
2015 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN.
|
23988501 |
2013 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The UMOD genotype is related to the clinical phenotype of UAKD.
|
23723338 |
2013 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.
|
14570709 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
|
12629136 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
MGD |
Validation of uromodulin as a candidate gene for human essential hypertension.
|
24324041 |
2014 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Umod mutant mice exhibit increased plasma urea and Cystatin levels, impaired urinary concentration ability, reduced fractional excretion of uric acid and nephropathological alterations including uromodulin retention in TALH cells, interstitial fibrosis and inflammatory cell infiltrations, tubular atrophy and occasional glomerulo- und tubulocystic changes, a phenotype highly similar to UAKD in humans.
|
23748428 |
2013 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The ultimate proof of the allelism between MCKD2 and FJHN will be provided by the identification of the responsible gene(s).
|
12832729 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN).
|
14531790 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
MGD |
Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice.
|
15522986 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations.
|
25738250 |
2015 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These observations suggest that there are different urinary and plasma uromodulin profiles in early and late disease and that there may be an altered direction of uromodulin secretion in the course of FJHN as a result of improper intracellular sorting of the mutated protein in the thick ascending limb.
|
17151335 |
2007 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Elucidation of the mechanisms of hyperuricemia in patients with familial juvenile hyperuricemic nephropathy will shed light on the function of uromodulin, functional impairment of which eventually results in diminished uric acid excretion.
|
18349750 |
2008 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
|
27729211 |
2017 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The three overlapping clinical uromodulin-associated kidney diseases (UAKD) are medullary cystic disease type 2, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease.
|
23880785 |
2014 |