|
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 |
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 |
Uromodulin: from physiology to rare and complex kidney disorders.
|
28781372 |
2017 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
'Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome.
|
16883323 |
2006 |
|
Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Serum uromodulin and progression of kidney disease in patients with chronic kidney disease.
|
30454063 |
2018 |