|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
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 |
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 |
Uromodulin: from physiology to rare and complex kidney disorders.
|
28781372 |
2017 |
|
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 |
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
Defective uromodulin processing is associated with various kidney disorders.
|
31444371 |
2019 |
|
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 |
Diagnosis and Long-term Management of Uromodulin Kidney Disease.
|
31157132 |
2019 |
|
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 |
Biomarker
|
group |
CTD_human |
Evaluation of nephrotoxicity with renal antigens in children: role of Tamm-Horsfall protein.
|
8486146 |
1993 |
|
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 |
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 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 |
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 |
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 |
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 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 |
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 |
LHGDN |
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
|
16164624 |
2005 |