|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A substitution of amino acid leucine 137 to proline in AQP2 (AQP2-L137P) causes Nephrogenic Diabetes Insipidus (NDI).
|
31302751 |
2020 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nephrogenic diabetes insipidus (NDI) is one of the principal defects leading to polyuria-polydipsia syndrome (PPS).
|
31516786 |
2019 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney.
|
31348762 |
2019 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria.
|
31271558 |
2019 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, by nucleotide sequencing, we found a novel mutation c.414_418del in arginine-vasopressin receptor 2 (AVPR2) was related to the disease of NDI.
|
31577731 |
2019 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.
|
29394883 |
2018 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the AVPR2 or AQP2 genes, encoding the vasopressin V2 receptor and the water channel Aquaporin2, respectively, lead to a 'pure' NDI with loss of water but normal conservation of ions.
|
28134709 |
2017 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Research on NDI in the past has largely been focused on the searching for mutations in vasopressin receptor 2 (AVPR2), while the functional relationship between SCTR, AVPR2 and NDI remains unclear.
|
27649563 |
2016 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
More than 200 mutations of the AVPR2 gene with complete NDI have been reported although only 15 mutations with partial NDI has been reported to date.
|
26974133 |
2016 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor.
|
27156763 |
2016 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.
|
26828532 |
2016 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI.
|
25902753 |
2015 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations.
|
24030030 |
2014 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Subsequently developed drugs targeting AVPR2 not only provide potential benefit to some patients with NDI, but are now used for much more common clinical applications as diverse as nocturnal enuresis and heart failure.
|
23736674 |
2014 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family.
|
24026507 |
2014 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria.
|
23360744 |
2013 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is speculated that 90% of NDI families carry disease-causing mutations in AVPR2 and 10% carry the mutations in AQP2; however, these percentages have not been supported by actual data.
|
23150186 |
2013 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct.
|
23364801 |
2013 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results provide valuable information about residues critical for AVPR2 folding, trafficking and function and proof that these mutations are responsible for causing NDI in the affected subjects.
|
21917732 |
2012 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration.
|
22427315 |
2012 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial NDI.
|
22386940 |
2012 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
CTD_human |
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.
|
19703807 |
2010 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel AVPR2 mutation M311V retains partial activity and results in a milder form of NDI.
|
20389105 |
2010 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
This makes V2R-specific cell-permeable agonists very promising therapeutics for NDI as a result of misfolded V2R receptors.
|
20163515 |
2010 |
|
Nephrogenic Diabetes Insipidus, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene.
|
20583549 |
2010 |