Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These observations suggest that there are different urinary and plasma uromodulin profiles in early and late disease and that there may be an altered direction of uromodulin secretion in the course of FJHN as a result of improper intracellular sorting of the mutated protein in the thick ascending limb.
|
17151335 |
2007 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the Uromodulin (UMOD) gene were published in patients with familial juvenile hyperuricemic nephropathy (FJHN) and MCKD2.
|
17245395 |
2007 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in UMOD gene was found in these 3 families as the cause of the FJHN.
|
17065110 |
2006 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.
|
15983957 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
MGD |
Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice.
|
15522986 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.
|
15983957 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the genetic basis of familial juvenile hyperuricemic nephropathy (FJHN), glomerulocystic kidney disease (GCKD) and autosomal dominant medullary cystic kidney disease 2 (MCKD2) has been recently attributed to mutations within the THP gene.
|
15989109 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death.
|
15844001 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
|
15673476 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.
|
15983957 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
FJHN and MCKD2 are allelic, result from uromodulin (UMOD) mutations and the term uromodulin-associated kidney disease (UAKD) has been proposed for them.
|
16164624 |
2005 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent reports on the discovery of mutations of the uromodulin (UMOD) gene in families with FJHN encouraged us to screen UMOD mutations in Japanese families with FJHN, including family 1.
|
15086896 |
2004 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the uromodulin gene (16p11-13) has recently been linked to medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy.
|
15073494 |
2004 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing.
|
15086896 |
2004 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
|
15575003 |
2004 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations of the UMOD gene, disrupting the tertiary structure of uromodulin, cause MCKD2 and FJHN.
|
15253706 |
2004 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.
|
14570709 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The ultimate proof of the allelism between MCKD2 and FJHN will be provided by the identification of the responsible gene(s).
|
12832729 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN).
|
14531790 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy.
|
12900848 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
|
12629136 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy.
|
12900848 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |
Hyperuricemic Nephropathy, Familial Juvenile 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease.
|
14569098 |
2003 |