A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
about
Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical AdenomasRole of the Renin-Angiotensin-Aldosterone System beyond Blood Pressure Regulation: Molecular and Cellular Mechanisms Involved in End-Organ Damage during Arterial HypertensionGenetic alterations in primary aldosteronismPrimary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney.Overview of the genetic determinants of primary aldosteronism.Minireview: potassium channels and aldosterone dysregulation: is primary aldosteronism a potassium channelopathy?Epistasis analysis for quantitative traits by functional regression model.A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassiumComprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.Current views on the diagnosis and management of hypokalaemia in children.Two-pore domain potassium channels in the adrenal cortex.Primary Aldosteronism and ARMC5 Variants.Molecular and Cellular Mechanisms of Aldosterone Producing Adenoma DevelopmentAltered and dynamic ion selectivity of K+ channels in cell development and excitabilityMutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone productiona Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.Recent genetic discoveries implicating ion channels in human cardiovascular diseasesRole of KCNJ5 in familial and sporadic primary aldosteronism.Regulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channel.Potassium channels: structures, diseases, and modulators.Aldosterone excess and resistant hypertension: investigation and treatment.Of channels and pumps: different ways to boost the aldosterone?Genetic screening in arterial hypertension.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.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3.
P2860
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P2860
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
A novel point mutation in the ...... tosomal dominant hypertension.
@ast
A novel point mutation in the ...... tosomal dominant hypertension.
@en
type
label
A novel point mutation in the ...... tosomal dominant hypertension.
@ast
A novel point mutation in the ...... tosomal dominant hypertension.
@en
prefLabel
A novel point mutation in the ...... tosomal dominant hypertension.
@ast
A novel point mutation in the ...... tosomal dominant hypertension.
@en
P2093
P2860
P356
P1476
A novel point mutation in the ...... tosomal dominant hypertension.
@en
P2093
Amalia Sertedaki
Christina Merakou
Darrell E Hurt
Evangelia Charmandari
George P Chrousos
Michael M Hatch
Paraskevi Xekouki
Tomoshige Kino
P2860
P304
P356
10.1210/JC.2012-1334
P407
P577
2012-05-24T00:00:00Z