Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis.
|
28990932 |
2017 |
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 |
BEFREE |
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.
|
28785050 |
2017 |
Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
|
16164624 |
2005 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.
|
29513881 |
2018 |
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 |
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 |
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 |
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 |
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 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Uromodulin: from physiology to rare and complex kidney disorders.
|
28781372 |
2017 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Development of next generation sequencing panel for UMOD and association with kidney disease.
|
28609449 |
2017 |
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 |
In patients suffering from chronic tubulointerstitial nephropathy, hyperuricemia, and a low fractional excretion of uric acid mutation, analysis of the UMOD gene should be performed to diagnose UMOD-associated kidney disease.
|
26810206 |
2016 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Genetic studies of urate transportation and of uromodulin-related nephropathy emphasize the pivotal importance of the proximal tubule in uric acid homeostasis.
|
22157498 |
2012 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
In contrast to weak and in part contradictory study data on uromodulin in urine samples, the analysis of serum samples recently proved uromodulin's value as superior biomarker for ongoing kidney disease.
|
28089453 |
2017 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Diagnosis and Long-term Management of Uromodulin Kidney Disease.
|
31157132 |
2019 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
UMOD-associated kidney disease has been proposed as a logical diagnostic label to replace FJHN, but given all these other mutations, an over-arching diagnostic term of 'autosomal dominant tubulointerstitial kidney disease' (ADTKD) has been recently adopted.
|
26872483 |
2016 |
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Considering MCKD2 to be a distinct molecular entity, the analysis suggests that as many as three kidney disease genes may be located in close proximity on 16p11.2.
|
12634862 |
2003 |