|
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 |
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 |
In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease.
|
23826568 |
2013 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
CTD_human |
UMOD encodes the most common protein in human urine, Tamm-Horsfall protein, and rare mutations in UMOD cause mendelian forms of kidney disease.
|
19430482 |
2009 |
|
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 |
Biomarker
|
group |
BEFREE |
Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life.
|
17245395 |
2007 |
|
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
UMOD encodes the most common protein in human urine, Tamm-Horsfall protein, and rare mutations in UMOD cause mendelian forms of kidney disease.
|
19430482 |
2009 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
CTD_human |
Evaluation of nephrotoxicity with renal antigens in children: role of Tamm-Horsfall protein.
|
8486146 |
1993 |
|
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 |
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 |
Defective uromodulin processing is associated with various kidney disorders.
|
31444371 |
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 |
GeneticVariation
|
group |
BEFREE |
A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism.
|
29578190 |
2017 |