a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
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Genetic alterations in primary aldosteronismInsights from exome sequencing for endocrine disordersPrimary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney.Overview of the genetic determinants of primary aldosteronism.A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassiumA case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.Two-pore domain potassium channels in the adrenal cortex.Aldosterone-stimulating somatic gene mutations are common in normal adrenal glandsPrevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.The Challenges of Arterial Hypertension.Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone productionCACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.Recent genetic discoveries implicating ion channels in human cardiovascular diseasesAldosterone excess and resistant hypertension: investigation and treatment.Inward-rectifying potassium channelopathies: new insights into disorders of sodium and potassium homeostasis.Hyperaldosteronism: How to Discriminate Among Different Disease Forms?Of channels and pumps: different ways to boost the aldosterone?Familial hyperaldosteronism type III.Channels and pumps in aldosterone-producing adenomas.A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome.Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3.
P2860
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P2860
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 13 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@en
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@nl
type
label
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@en
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@nl
prefLabel
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@en
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@nl
P2093
P2860
P50
P356
P1476
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
@en
P2093
Christina Sterner
David Penton
Michael A Edwards
Namita G Hattangady
Paolo Mulatero
Tracy A Williams
William E Rainey
P2860
P304
P356
10.1210/JC.2013-2428
P407
P577
2013-09-13T00:00:00Z