Recombinant Human G protein-activated inward rectifier potassium channel 4 (KCNJ5)

1. Macrolides for KCNJ5-mutated aldosterone-producing adenoma (MAPA): design of a study for personalized diagnosis of primary aldosteronism. PMID: 29409357
2. Recurrent KCNJ5 mutations have subsequently been demonstrated in large series of Aldosterone-producing Adenomas worldwide. PMID: 27864865
3. germline mutations cause familial hyperaldosteronism type III [revew] PMID: 28447626
4. DNA hypomethylation and gene expression changes in Wnt signaling and inflammatory response pathways were characteristic of APAs with KCNJ5 mutations. PMID: 28747387
5. rs2604204 polymorphism related to increased plasma aldosterone level, but also plasma renin, angiotensin I and II levels in newly diagnosed, never-treated hypertension patients PMID: 28102195
6. our results provide evidence that during 12 months of follow-up of APA patients after adrenalectomy, KCNJ5 mutational status was not associated with the improvement of arterial stiffness. Clinically, patients who are younger tend to have an advantage in being cured of hypertension after adrenalectomy. PMID: 28415786
7. An aldosterone-driving KCNJ5 mutation was detected in juvenile primary aldosteronism, but not in the histologically normal cortex. PMID: 27514282
8. By proving the principle that the oversecretion of aldosterone can be specifically blunted in APA cells ex vivo with G151R and L168R mutations, these results provide compelling evidence of the possibility of specifically correcting aldosterone excess in patients with APA carrying the 2 most common KCNJ5 somatic mutations. PMID: 28993452
9. KCNJ5(T158A)increases CYP11B2 expression and production of aldosterone, corticosterone and hybrid steroids by upregulating both acute and chronic regulatory events in aldosterone production, and verapamil blocks KCNJ5(T158A)-mediated pathways leading to aldosterone production. PMID: 27099398
10. These findings expand on the clinical spectrum of phenotypes associated with KCNJ5 mutations and implicate these mutations in the pathogenesis of hypertension associated with increased aldosterone response to ACTH stimulation. PMID: 27293068
11. KCNJ5 mutations predominate in large zona fasciculata (ZF)-like Aldosterone-producing Adenomas. PMID: 28584012
12. Mutations in KCNJ5 cause the excessive autonomous aldosterone secretion of Aldosterone-producing Adenomas. PMID: 28584016
13. KCNJ5 genetic mutation plays a role in the development of primary aldosteronism in aldosterone producing adenomas. PMID: 27777363
14. Study provides new evidence, indicating that some glutamate receptor ionotropic kainate 4 variants modulate the response to electroconvulsive therapy in patients with depression resistant to treatment, suggesting a role for kainate receptor modulation. PMID: 27222927
15. documented for the first time the expression of inflammation-related genes in aldosterone-producing adenomas (APAs) and the correlation of their expression levels with the KCNJ5 mutation status and mRNA expression levels of steroidogenic enzymes, indicating the pathophysiological relevance of inflammation-related genes in APAs PMID: 27282482
16. japanese Aldosterone-Producing Adenoma patients may have distinct features including a higher prevalence of KCNJ5 mutations, no gender difference in the frequency of these mutations, and characteristics similar to the zona glomerulosa. PMID: 27681703
17. Novel somatic KCNJ5 variants likely cause adenomas by loss of potassium selectivity, similar to previously described mutations. PMID: 26252618
18. KCNJ5 mutations in aldosterone-producing adenomas are more frequent in women; however, this gender dimorphism is a reported phenomenon of Western but not East Asian populations (review). PMID: 26566104
19. The present study demonstrated the high prevalence of somatic KCNJ5 mutations in Korean patients with aldosterone-secreting adenoma. Carriers of somatic KCNJ5 mutations were more likely to be female. PMID: 26807823
20. This study confirms the frequency of somatic KCNJ5 mutations in aldosterone production by adenomas. PMID: 26340408
21. In aldosterone-producing cells of an in vitro model of hyperaldosteronism GIRK4 does not form functional channels. PMID: 25998841
22. Serum adiponectin level was an independent predictor of early atherosclerosis in smokers. Nicotine might decrease adiponectin in part through altering KATP channels in adipocytes. PMID: 26059367
23. Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified. PMID: 26351028
24. GIRK4 immunohistochemistry might be used for initial screening of the somatic mutation status of aldosterone producing adenoma. PMID: 25617716
25. Findings in a large Australian cohort show that patients with mutations in KCNJ5 present earlier with the signs and symptoms of primary hyperaldosteronism and benefit from surgical intervention. PMID: 24274318
26. KCNJ5 gene mutations are associated with aldosterone-producing adenomas. PMID: 25253161
27. Meta-analysis showed that more pronounced hyperaldosteronism, young age, female gender, and larger tumors are the phenotypic features of APA patients with KCNJ5 mutations.[meta-analysis; review] PMID: 26066531
28. Besides Na(+)-leak mutations, novel KCNJ5 mutations causing a reduction of surface and total abundance of Kir3.4 are also associated with sporadic aldosterone-producing adenoma. PMID: 25347571
29. KCNJ5-mutated patients benefit more from surgical resection of ALDOSTERONE-PRODUCING ADENOMA than nonmutated patients PMID: 25906099
30. Missense mutations of KCNJ5 gene may be associated with unilateral adrenal hyperplasia (UAH). PMID: 25636093
31. Compared to wild-type aldosterone-producing adenoma patients, those with KCNJ5 mutations showed more prominent cardiovascular damage. PMID: 24759126
32. Diverse clinical severity in FH-III cannot be defined solely by KCNJ5 genotype. PMID: 24819081
33. Biased transmission of the same haplotypes for TS and ADHD was identified in independent samples, supporting this gene as a possible susceptibility locus for both disorders. PMID: 24840790
34. A novel KCNJ5 channelopathy located after the pore alpha-helix preceding the selectivity filter causes constitutive secretion of aldosterone with ensuing resistant hypertension in a patient with a small adenoma. PMID: 25057880
35. Patients with aldosterone-producing adenomas that had KCNJ5 mutations were more frequently female, diagnosed younger, and with higher minimal plasma potassium concentrations compared with CACNA1D mutation carriers or noncarriers. PMID: 24866132
36. Somatic mutations found in KCNJ5, ATP1A1, and ATP2B3 appear to be the driving forces for a higher aldosterone production and proliferations of glomerulosa cells. PMID: 24179102
37. heterogeneously expressed across human ventricular wall PMID: 24148898
38. Kir3.4 potassium channel is expressed in the zona glomerulosa cell membrane and regulates aldosterone biosynthesis[review]. PMID: 23829355
39. data suggest that QTpeak intervals and T-wave morphology combination score may be the better parameters than the corrected QT interval to predict the phenotype-genotype relationship in patients with type 13 long QT syndrome with mutation in KCNJ5. PMID: 23872692
40. Rs3740835(C/A) polymorphism may be associated with unilateral primary aldosteronism(PA) not with bilateral PA. PMID: 24711039
41. Germline variation in the KCNJ5 gene has a role to play in the common sporadic form as well as the much rarer syndromic forms of primary aldosteronism. PMID: 24420545
42. KCNJ5 is a second gene causing Andersen-Tawil syndrome: the inhibitory effects of mutant Kir3.4 on inwardly rectifying potassium channels may account for the clinical presentation in both skeletal and heart muscles. PMID: 24574546
43. Overexpression of mutant KCNJ5 in adrenocortical NCI-H295R cells increased intracellular Ca2+ at resting conditions and impaired Ca2+ export by Na+/Ca2+ exchangers. PMID: 24506072
44. KCNJ5 mutations are present in aldosterone producing adenomas that result in an increase in CYP11B2 gene expression and may account for the dysregulated aldosterone production in a subset of patients with sporadic primary aldosteronism. PMID: 24082052
45. The rs11221497 SNP of the GIRK4 gene is associated with essential hypertension. PMID: 24510572
46. KCNJ5 mutations are associated with better surgical outcome in patients diagnosed with adrenal gland neoplasms. PMID: 23778974
47. We describe a new germline mutation in KCNJ5 responsible for familial hyperaldosteronism-III. PMID: 24037882
48. KCNJ5 mutations are not correlated with adrenal cortex remodeling in aldosterone producing adenoma PMID: 23376008
49. The genetic variant rs2604204 of KCNJ5 is associated with sporadic PA in Chinese males, suggesting that KCNJ5 may be involved in the pathogenesis of sporadic PA in these particular patients PMID: 23382865
50. new insight into the pathogenesis of aldosterone-producing adenomas (APAs) and inherited primary aldosteronism; the role of mutations in the potassium channel KCNJ5 in these disorders (Review) PMID: 23318698

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HGNC: 6266

OMIM: 600734

KEGG: hsa:3762

STRING: 9606.ENSP00000339960

UniGene: Hs.444595