Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperaldosteronismus Typ 3

Der familiäre Hyperaldosteronismus vom Typ 3 ist eine autosomal dominante Erkrankung, die durch Mutationen des KCNJ5-Gens hervorgerufen wird.

Gliederung

Hyperaldosteronismus
Conn-Syndrom
Glycocorticoid getriggerter Hypertonus
Hyperaldosteronismus Typ 1
Hyperaldosteronismus Typ 2
Hyperaldosteronismus Typ 3
KCNJ5
Hyperaldosteronismus Typ 4

Referenzen:

1.

He C et al. (2002) Identification of critical residues controlling G protein-gated inwardly rectifying K(+) channel activity through interactions with the beta gamma subunits of G proteins.

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2.

Geller DS et al. (2008) A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.

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3.

Perry CA et. al. (2008) Predisposition to late-onset obesity in GIRK4 knockout mice.

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4.

Yang Y et al. (2010) Identification of a Kir3.4 mutation in congenital long QT syndrome.

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5.

Choi M et al. (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

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6.

Xekouki P et al. (2012) KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

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7.

Bar-Lev A et al. (2012) Genetics of adrenocortical disease: an update.

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8.

Zennaro MC et al. (2012) Integrating genetics and genomics in primary aldosteronism.

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9.

Åkerström T et al. (2012) Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

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10.

Yamada M et al. (2012) KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas.

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11.

Kang YA et al. (2012) Advances in research on G protein-coupled inward rectifier K(+) channel gene.

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12.

Mulatero P et al. (2013) Role of KCNJ5 in familial and sporadic primary aldosteronism.

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13.

Scholl UI et al. (2013) New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.

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14.

Boulkroun S et al. (2013) KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling.

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15.

Li NF et al. (2013) Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.

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16.

Stowasser M et al. (2013) Primary aldosteronism and potassium channel mutations.

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17.

Tucker SJ et al. (1995) Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24.

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18.

Bond CT et al. (1994) Cloning and expression of a family of inward rectifier potassium channels.

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19.

Krapivinsky G et al. (1995) The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins.

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20.

Ashford ML et al. (1994) Cloning and functional expression of a rat heart KATP channel.

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21.

Wickman K et al. (1997) Partial structure, chromosome localization, and expression of the mouse Girk4 gene.

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22.

Ji S et al. (1998) Mechanosensitivity of the cardiac muscarinic potassium channel. A novel property conferred by Kir3.4 subunit.

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23.

Corey S et al. (1998) Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers.

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24.

Kennedy ME et al. (1999) GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels.

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