Adenoma
|
0.400 |
AlteredExpression
|
group |
BEFREE |
VDR mRNA levels were positively correlated with those of CYP11B2, CYP17A1 and CYP11B1 in APA tumor tissues and significantly higher in KCNJ5 mutated APAs than wild type.
|
31351131 |
2019 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Two siblings of a Taiwanese family with GRA were found to have adrenal adenomas and somatic KCNJ5 mutations.
|
31287546 |
2019 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.
|
30753137 |
2019 |
Adenoma
|
0.400 |
AlteredExpression
|
group |
BEFREE |
We generated a specific KCNJ5 monoclonal antibody which was used in immunohistochemistry to demonstrate strong KCNJ5 expression in adenomas without a <i>KCNJ5</i> mutation and in the zona glomerulosa adjacent to adenomas irrespective of genotype as well as in aldosterone-producing cell clusters.
|
31446799 |
2019 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations in KCNJ5 has also been described in aldosterone-producing adenomas.
|
30569443 |
2019 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The aim of this study was to show the effect of KCNJ5 mutational status on arterial stiffness in aldosterone-producing adenomas after adrenalectomy.
|
28415786 |
2017 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Characteristics of Japanese aldosterone-producing adenomas with KCNJ5 mutations.
|
27681703 |
2017 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These GNAS and KCNJ5 mutations were mutually exclusive in these adenomas.
|
26743443 |
2016 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NEFM, a gene highly upregulated in zona glomerulosa, was upregulated in KCNJ5 wild-type aldosterone-producing adenomas.
|
27777363 |
2016 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Both KCNJ5 and CACNA1D mutations in familial hyperaldosteronism were only discovered following identification of similar or identical somatic mutations in aldosterone-producing adenomas.
|
26445452 |
2015 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
As a major cause of aldosterone producing adenomas, numerous gain-of-function mutations in the KCNJ5 gene (encoding the K(+) channel subunit GIRK4) have been identified.
|
25998841 |
2015 |
Adenoma
|
0.400 |
Biomarker
|
group |
BEFREE |
Two-thirds of APA and only one NFAI exhibited both GIRK4 and Disabled-2 membrane staining, allowing to correctly classify 79% of adenomas.
|
25617716 |
2015 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, somatic KCNJ5 mutations are conspicuously more popular than mutations of other genes in aldosterone-producing adenomas of Chinese patients.
|
25624344 |
2015 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The clinical use of these drugs might influence aldosterone levels in APA patients with KCNJ5 mutations.
|
24506072 |
2014 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Besides the recently described germline mutations in the KCNJ5 potassium channel associated with familial primary aldosteronism, somatic mutations in the same channel have been identified within aldosterone-producing adenomas.
|
24420545 |
2014 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
|
24082052 |
2014 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the potassium channel gene KCNJ5 are a cause of familial and sporadic forms of primary aldosteronism with around 30-40% of aldosterone-producing adenomas being affected by somatic mutations.
|
24739312 |
2014 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Since we recently reported higher prevalence of mutations of the KCNJ5 gene and associations with autonomous cortisol secretion in Japanese aldosterone-producing adenomas than in Western countries, there might be different features of CPAs between Japan and the West.
|
25069672 |
2014 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
KCNJ5 mutations were present in 22 of 53 adrenals (13 adenoma and nine multinodular adrenals).
|
24758183 |
2014 |
Adenoma
|
0.400 |
Biomarker
|
group |
BEFREE |
The lateralization index (ratio of aldosterone:cortisol on the side of the adenoma to aldosterone to cortisol on the contralateral side) and the contralateral suppression index (ratio of aldosterone:cortisol on the contralateral side to aldosterone to cortisol in the periphery) were calculated for the KCNJ5-mutated, ATPase-mutated, and the KCNJ5/ATPase mutation-negative APA patients.
|
23946277 |
2013 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the KCNJ5 gene, which encodes the inward rectifier K(+) channel 4 (G protein-activated inward rectifier K(+) channel 4, Kir3.4), cause familial hyperaldosteronism type III (FH-III) and are involved in the pathogenesis of sporadic aldosterone-producing adenomas.
|
24037882 |
2013 |
Adenoma
|
0.400 |
Biomarker
|
group |
CTD_human |
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
|
23913004 |
2013 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Seven families with familial hyperaldosteronism caused by KCNJ5 germline mutations have so far been described, and multicentre studies have reported KCNJ5 mutations in approximately 40% of sporadic aldosterone-producing adenomas.
|
23229280 |
2013 |
Adenoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.
|
23318698 |
2013 |
Adenoma
|
0.400 |
Biomarker
|
group |
CTD_human |
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
|
23913001 |
2013 |