|
rs386352319
|
|
|
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 |
|
rs386352319
|
|
|
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 |
|
rs386352319
|
|
|
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 |
|
rs386352319
|
|
|
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 |
|
rs386352319
|
|
|
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 |
|
rs386352318
|
|
|
0.030 |
GeneticVariation |
BEFREE |
From a large cohort of patients with an unambiguous APA diagnosis, we recruited those who were wild type (n=3) or had G151R (n=2) and L168R (n=2) mutations.
|
28993452 |
2017 |
|
rs386352318
|
|
|
0.030 |
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 |
|
rs387906778
|
|
|
0.030 |
GeneticVariation |
BEFREE |
HAC15 cells with KCNJ5 gene carrying T158A mutation exhibited a significantly lower GNRHR expression than that in control cells (P < 0.05).We clarified increased expression of GNRHR and LHCGR in APA-WT, and the molecular analysis including the receptor expression associated with clinical findings of GnRH stimulation.
|
27196470 |
2016 |
|
rs387906778
|
|
|
0.030 |
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 |
|
rs386352318
|
|
|
0.030 |
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 |
|
rs387906778
|
|
|
0.030 |
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 |
|
rs746967306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cav3.2 p.Ser196Leu and p.Pro2083Leu were found in two patients with FH, and p.Val1951Glu was identified in one patient with APA.
|
27729216 |
2016 |
|
rs370574590
|
|
|
0.010 |
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 |