|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in uromodulin are responsible for autosomal-dominant kidney diseases characterized by defective urine concentrating ability, hyperuricemia, gout, tubulointerstitial fibrosis, renal cysts, and chronic kidney disease.
|
22237754 |
2012 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in nephrin (NPHS1), podocin (NPHS2), laminin β2 (LAMB2), and α-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV α chains (COL4A) have been demonstrated to activate podocyte ER stress in collagen IV nephropathies; and mutations in uromodulin (UMOD) have been reported to trigger tubular ER stress in autosomal dominant tubulointerstitial kidney disease.
|
30099615 |
2019 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Mutations in the gene encoding uromodulin lead to rare autosomal dominant diseases, collectively referred to as uromodulin-associated kidney diseases.
|
21654721 |
2011 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Recent studies have reported that reduced excretion of urinary uromodulin is associated with renal tubular function and risks of progressive kidney disease.
|
30636243 |
2019 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Serum uromodulin and progression of kidney disease in patients with chronic kidney disease.
|
30454063 |
2018 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
The prevalence of genetic kidney diseases and ADTKD-UMOD is significantly higher than previously described.
|
30376835 |
2018 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
These polymorphisms affect uromodulin concentration in the urine, and lower genetically determined urinary uromodulin concentrations seem to protect against renal disease.
|
20948228 |
2010 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes.
|
20686651 |
2010 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
These studies quantitatively show that the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion.
|
15327389 |
2004 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
LHGDN |
These studies quantitatively show that the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion.
|
15327389 |
2004 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal disease in humans which is caused by mutations in the uromodulin (UMOD) gene and characterized by heterogeneous clinical appearance.
|
23748428 |
2013 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
We conclude that UMOD is unlikely to play a role in IgA nephropathy pathogenesis nor progression to end stage renal failure, and suggest that UMOD effects are restricted to some causes of renal disease, e.g. diabetes or hypertension.
|
25163389 |
2014 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN.
|
12471200 |
2002 |