|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Secondary hypoaldosteronism (pseudohypoaldosteronism) occurs as a consequence of mutations in genes encoding the mineralocorticoid receptor (MR), the three subunits of the aldosterone-responsive, amiloride-sensitive nonvoltage-gated sodium channel encoded by SCNN1A, SCNN1B, and SCNN1G, the gene that regulates posttranslational phosphorylation (encoded by WNK4) of the thiazide-sensitive sodium chloride cotransporter encoded by SLC12A3, and those that regulate phosphorylation and ubiquitination of cofactors encoded by WNK1, KLH3, and CUL3 that affect WNK4 function.
|
24840884 |
2014 |
|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whereas disruption of the MR by gene targeting in mice leads to postnatal death, our strategy also allowed obtaining adult knockdown rats with defects in hormone and electrolyte homeostasis resembling pseudohypoaldosteronism.
|
18337591 |
2008 |
|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
|
16954160 |
2006 |
|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.
|
12483305 |
2003 |
|
Pseudohypoaldosteronism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Finally, functional hypermineralocorticism was associated with reduced expression of hMR beta in sweat glands of two patients affected by Conn's and Liddle's syndrome, whereas normal levels of hMR isoforms were found in one case of pseudohypoaldosteronism.
|
9141514 |
1997 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
BEFREE |
It seems that the pathogenesis of pseudohypoaldosteronism is even more heterogeneous than previously thought and factors other than aldosterone receptor binding are crucial and need further identification.
|
8894667 |
1996 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Molecular characterization of the mineralocorticoid receptor in pseudohypoaldosteronism.
|
7792806 |
1995 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although aldosterone receptor binding is regularly decreased or absent in monocytes of patients with pseudohypoaldosteronism, in some patients receptor protein can be detected with a fluorescence-labeled antibody.
|
7792804 |
1995 |
|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular studies of the MR complementary DNA and gene in this series of sporadic cases of pseudohypoaldosteronism are reported.
|
7883835 |
1995 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: a responsiveness test and therapy.
|
7962269 |
1994 |
|
Pseudohypoaldosteronism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism.
|
8027248 |
1994 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities.
|
1659876 |
1991 |
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pseudohypoaldosteronism
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|