Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. - Wikidata - wikimedia - TriplyDB

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

http://www.wikidata.org/entity/Q34359244

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Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas Genetics of Aldosterone-Producing Adenoma in Korean Patients Primary 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?A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China A 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.Molecular and Cellular Mechanisms of Aldosterone Producing Adenoma Development Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma Altered and dynamic ion selectivity of K+ channels in cell development and excitability Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands Adrenal histopathology in primary aldosteronism: is it time for a change?Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.Activating mutations in CTNNB1 in aldosterone producing adenomas.Immunohistochemistry of the adrenal in primary aldosteronism Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Recent genetic discoveries implicating ion channels in human cardiovascular diseases Role of KCNJ5 in familial and sporadic primary aldosteronism.Regulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channel.Aldosterone excess and resistant hypertension: investigation and treatment.5th International ACC Symposium: The New Genetics of Benign Adrenocortical Neoplasia: Hyperplasias, Adenomas, and Their Implications for Progression into Cancer.Genetics of adrenocortical tumours.Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.Immunohistochemistry of aldosterone synthase leads the way to the pathogenesis of primary aldosteronism.WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production.Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.CTNNB1 Mutation in Aldosterone Producing Adenoma.Channels and pumps in aldosterone-producing adenomas.Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway.Targeted disruption of the KCNJ5 gene in the female mouse lowers aldosterone levels.Mutations in KCNJ5 determines presentation and likelihood of cure in primary hyperaldosteronism.The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity.Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.A Young Patient with Leg Weakness and Hypokalemia-Case Report.Prevalence of Somatic Mutations in Thai Patients With Aldosterone-Producing Adrenal Adenomas

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Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

http://www.wikidata.org/entity/Q34359244

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2012 nî lūn-bûn

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2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2012年の論文

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Alberto Delgado Verdugo

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Alfred Feller

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Bo Wängberg

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Gunnar Westin

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Holger S Willenberg

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Jan Zedenius

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Jean-Louis Kraimps

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P2860

An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling

KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

CLINICAL CHARACTERISTICS OF PRIMARY ALDOSTERONISM FROM AN ANALYSIS OF 145 CASES.

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

Primary aldosteronism: renaissance of a syndrome.

Selection of patients for surgery for primary aldosteronism.

Primary aldosteronism: an update on screening, diagnosis and treatment.

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