|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
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 |
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 |
|
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 |
LHGDN |
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
|
16164624 |
2005 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
'Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome.
|
16883323 |
2006 |
|
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 |
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 |
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 |
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 |
AlteredExpression
|
group |
BEFREE |
Follow-up studies stimulated by findings from genome-wide association studies of kidney disease are already yielding promising results, such as the identification of an association between urinary uromodulin levels and incident CKD.
|
22143329 |
2011 |
|
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 |
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 |
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 |
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 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 |
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 our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1).
|
24961278 |
2014 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
In addition to causing specific UAKD, certain uromodulin gene polymorphisms have been linked to ESRD in general, suggesting that uromodulin plays a modulatory role in kidney disease progression.
|
23880785 |
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 |
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 |