|
HYPERALDOSTERONISM, FAMILIAL, TYPE III
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
HYPERALDOSTERONISM, FAMILIAL, TYPE III
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
ALDOSTERONE-PRODUCING ADRENAL ADENOMA, SOMATIC
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Conn Adenoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
By proving the principle that the oversecretion of aldosterone can be specifically blunted in APA cells ex vivo with G151R</span> 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 <i>KCNJ5</i> somatic mutations.
|
28993452 |
2017 |
|
Conn Adenoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Somatic KCNJ5 mutations were found in 47 (71.2%) of the 66 patients with APA (31 cases of p.G151R and 16 cases of p.L168R); these two mutations were mutually exclusive.
|
26807823 |
2016 |
|
Conn Adenoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The mAPA-like portions from two of the three large pAATLs examined harbored mutations (KCNJ5 [p.G151R] in pAATL 3 and ATP1A1 [p.L337M] in pAATL 7), whereas their corresponding APCC-like portions did not, suggesting their role in the formation of mAPA.
|
26580238 |
2016 |
|
Conn Adenoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The present study sequenced the DNA in the tissues and blood samples from Chinese patients with APA for KCNJ5, ATP1A1, ATP2B3, and CACNA1D gene mutations.Among the 114 patients, 86 (75.4%) were identified with KCNJ5 somatic mutations, including 3 previously reported (G151R, L168R, T158A) and 2 other unreported mutations.
|
25906099 |
2015 |
|
Conn Adenoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
We identified a new germline G151E mutation in 2 primary aldosteronism-affected subjects from an Italian family and 3 somatic mutations in aldosterone-producing adenomas, T158A described previously as a germline mutation associated with FH-III, and G151R and L168R both described as somatic mutations in aldosterone-producing adenoma.
|
22203740 |
2012 |
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
KCNJ5 mutations were identified in 33 of 76 (43.4%) tumors: p.Gly151Arg (n = 17), p.Leu168Arg (n = 15), and p.Glu145Gln (n = 1).
|
31216002 |
2019 |
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hierarchical clustering of transcriptome profiles showed that APAs with p.Gly151Arg or p.Leu168Arg mutations were indistinguishable from tumors without KCNJ5 mutations.
|
22275527 |
2012 |
|
Adrenal Cortical Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the six adrenocortical adenomas with CYP11B2 heterogeneity, three had aldosterone-regulating mutations (CACNA1D p.F747C, KCNJ5 p.L168R, ATP1A1 p.L104R) only in CYP11B2-positive regions, and one had two different mutations localized to two histologically distinct CYP11B2-positive regions (ATP2B3 p.L424_V425del, KCNJ5 p.G151R).
|
26765578 |
2016 |
|
Nodule
|
|
0.010 |
GeneticVariation
|
BEFREE |
In 1 adrenal harboring the KCNJ5 p.Gly151Arg mutation in the principal nodule, the same mutation was present in 2 secondary nodules, but no mutation was found in a third nodule.
|
26351028 |
2015 |
|
Conn Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recently, either of two recurrent somatic missense mutations (G151R or L168R) was found in the potassium channel KCNJ5 gene in aldosterone producing adenomas.
|
22848660 |
2012 |