Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks

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Aldosterone-Producing Adenomas

Unilateral primary aldosteronism (PA) is a common surgically curable cause of secondary hypertension. Adrenal glands removed for unilateral PA display histological heterogeneity. Recently, gain-of-function somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 have been found in 50% to 80% of aldosterone-producing adenomas (APAs). These gain-of-function mutations provide plausible mech...

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Genetic Alterations and Molecular Signatures in Aldosterone Producing Adenomas

Åkerström, T. 2016. Genetic Alterations and Molecular Signatures in Aldosterone Producing Adenomas. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1197. 49 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-9517-6. Primary Aldosteronism (PA) is caused by autonomous overproduction of aldosterone. Aldosterone is necessary for fluid and ion homeosta...

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Localization of the endothelin system in aldosterone-producing adenomas.

Endothelin-1 (ET-1) could play a role in the regulation of aldosterone secretion of the human adrenal gland. The presence of the endothelin-converting enzyme 1 (ECE-1) and ET-1 suggests that there is a local ET system in the adrenal cortex, but the in situ synthesis of ET-1 remains to be confirmed. The cellular distribution of the whole ET system was evaluated in 20 cases of aldosterone-produci...

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Activating mutations in CTNNB1 in aldosterone producing adenomas.

Primary aldosteronism (PA) is the most common cause of secondary hypertension with a prevalence of 5-10% in unreferred hypertensive patients. Aldosterone producing adenomas (APAs) constitute a large proportion of PA cases and represent a surgically correctable form of the disease. The WNT signaling pathway is activated in APAs. In other tumors, a frequent cause of aberrant WNT signaling is muta...

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Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the G-protein-activated inward rectifier K(+) channel 4, GIRK4, account for ≈40% of APAs. Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a com...

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ژورنال

عنوان ژورنال: Hypertension

سال: 2019

ISSN: 0194-911X,1524-4563

DOI: 10.1161/hypertensionaha.118.12070