Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite the unique location and recent association of THP gene mutations with hereditary uromodulin-associated kidney disease and THP single nucleotide polymorphisms with chronic kidney disease and hypertension, the physiological function(s) of THP and its pathological involvement remain incompletely understood.
|
29357410 |
2018 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons.
|
28990932 |
2017 |
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 |
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 |
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 |
UNIPROT |
Pathogenic uromodulin mutations result in premature intracellular polymerization.
|
25436415 |
2015 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
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 |
BEFREE |
The UMOD genotype is related to the clinical phenotype of UAKD.
|
23723338 |
2013 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein.
|
23197950 |
2012 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Familial juvenile hyperuricemic nephropathy (FJHN) is one of three similar clinical disorders associated with uromodulin gene mutations.
|
22157498 |
2012 |
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 |
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 |
FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively.
|
20976470 |
2011 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific.
|
21868615 |
2011 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.
|
21060763 |
2010 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.
|
21060763 |
2010 |
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 |
Biomarker
|
disease |
BEFREE |
The uromodulin excretion pattern observed in the investigated family suggests that urinary uromodulin decreases in FJHN from low normal values at childhood to extremely low levels in early adulthood.
|
19203555 |
2009 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD).
|
18846391 |
2009 |
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 |