Genetic causes of primary aldosteronism

Adrenal Tissue-Specific Deletion of TASK Channels Causes Aldosterone-Driven Angiotensin II–Independent Hypertension

(2019) Nick A. Guagliardo et al.   HYPERTENSION

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants

(2019) Antonio M Lerario et al.   ENDOCRINE-RELATED CANCER

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks

(2019) Kazutaka Nanba et al.   HYPERTENSION

Macrolides for KCNJ5–mutated aldosterone-producing adenoma (MAPA): design of a study for personalized diagnosis of primary aldosteronism

(2018) Giuseppe Maiolino et al.   BLOOD PRESSURE

Prevalence of Cardiovascular Disease and Its Risk Factors in Primary AldosteronismNovelty and Significance

(2018) Youichi Ohno et al.   HYPERTENSION

CLCN2 chloride channel mutations in familial hyperaldosteronism type II

(2018) Ute I. Scholl et al.   NATURE GENETICS

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

(2018) Fabio L. Fernandes-Rosa et al.   NATURE GENETICS

Cardiometabolic outcomes and mortality in medically treated primary aldosteronism: a retrospective cohort study

(2018) Gregory L Hundemer et al.   Lancet Diabetes & Endocrinology

Cardiovascular events and target organ damage in primary aldosteronism compared with essential hypertension: a systematic review and meta-analysis

(2018) Silvia Monticone et al.   Lancet Diabetes & Endocrinology

Cellular and Genetic Causes of Idiopathic Hyperaldosteronism

(2018) Kei Omata et al.   HYPERTENSION

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans

(2018) Kazutaka Nanba et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Causes of Functional Adrenocortical Adenomas

(2017) Maria-Christina Zennaro et al.   ENDOCRINE REVIEWS

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

(2017) Alexandra Pinggera et al.   HUMAN MOLECULAR GENETICS

Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma

(2017) Ute I. Scholl et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence and Clinical Manifestations of Primary Aldosteronism Encountered in Primary Care Practice

(2017) Silvia Monticone et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Somatic KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism

(2017) Ai Tamura et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

(2017) SE Flanagan et al.   PEDIATRIC DIABETES

Outcomes after adrenalectomy for unilateral primary aldosteronism: an international consensus on outcome measures and analysis of remission rates in an international cohort

(2017) Tracy A Williams et al.   Lancet Diabetes & Endocrinology

Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca2+-ATPase ATP2B3

(2016) Philipp Tauber et al.   ENDOCRINOLOGY

CACNA1HM1549VMutant Calcium Channel Causes Autonomous Aldosterone Production in HAC15 Cells and Is Inhibited by Mibefradil

(2016) Esther N. Reimer et al.   ENDOCRINOLOGY

Hypomethylation of CYP11B2 in Aldosterone-Producing AdenomaNovelty and Significance

(2016) Yoko Yoshii et al.   HYPERTENSION

KCNK3 Variants Are Associated With Hyperaldosteronism and HypertensionNovelty and Significance

(2016) Ani Manichaikul et al.   HYPERTENSION

Molecular Heterogeneity in Aldosterone-Producing Adenomas

(2016) Kazutaka Nanba et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Aldosterone-Producing Adenoma With a Somatic KCNJ5 Mutation Revealing APC-Dependent Familial Adenomatous Polyposis

(2016) Julien Vouillarmet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline

(2016) John W. Funder et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic characterization of a mouse line with primary aldosteronism

(2016) L G Perez-Rivas et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Pregnancy, Primary Aldosteronism, and Somatic CTNNB1 Mutations

(2016)   NEW ENGLAND JOURNAL OF MEDICINE

Activating mutations in CTNNB1 in aldosterone producing adenomas

(2016) Tobias Åkerström et al.   Scientific Reports

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

(2016) Georgios Daniil et al.   EBioMedicine

Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype

(2015) Ute I. Scholl et al.   CLINICAL ENDOCRINOLOGY

Integration of transcriptome and methylome analysis of aldosterone-producing adenomas

(2015) Masanori Murakami et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

An Update on Familial Hyperaldosteronism

(2015) H. Korah et al.   HORMONE AND METABOLIC RESEARCH

Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing AdenomasNovelty and Significance

(2015) Tracy Ann Williams et al.   HYPERTENSION

A Case of Severe Hyperaldosteronism Caused by a De Novo Mutation Affecting a Critical Salt Bridge Kir3.4 Residue

(2015) Silvia Monticone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Meta-Analysis of Somatic KCNJ5 K+Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma

(2015) Livia Lenzini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma

(2015) C. Christofer Juhlin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Spironolactone versus placebo, bisoprolol, and doxazosin to determine the optimal treatment for drug-resistant hypertension (PATHWAY-2): a randomised, double-blind, crossover trial

(2015) Bryan Williams et al.   LANCET

Potassium channels related to primary aldosteronism: Expression similarities and differences between human and rat adrenals

(2015) Andrew X. Chen et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations

(2015) Ada E.D. Teo et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands

(2015) Koshiro Nishimoto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

(2015) Ute I Scholl et al.   eLife

Diastrophic Dysplasia Sulfate Transporter (SLC26A2) Is Expressed in the Adrenal Cortex and Regulates Aldosterone Secretion

(2014) Ariadni Spyroglou et al.   HYPERTENSION

Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma

(2014) Fabio Luiz Fernandes-Rosa et al.   HYPERTENSION

Adrenal Nodularity and Somatic Mutations in Primary Aldosteronism: One Node Is the Culprit?

(2014) T. Dekkers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

(2014) Gerald Goh et al.   NATURE GENETICS

Somatic ATP1A1 , ATP2B3 , and KCNJ5 Mutations in Aldosterone-Producing Adenomas

(2013) Tracy Ann Williams et al.   HYPERTENSION

Chronic hyperaldosteronism in Cryptochrome-null mice induces high-salt- and blood pressure-independent kidney damage in mice

(2013) Dwi Aris Agung Nugrahaningsih et al.   HYPERTENSION RESEARCH

Histopathological Diagnosis of Primary Aldosteronism Using CYP11B2 Immunohistochemistry

(2013) Kazutaka Nanba et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

(2013) Silvia Monticone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Integrated Analysis of Genome-Wide Methylation and Gene Expression Shows Epigenetic Regulation ofCYP11B2in Aldosteronomas

(2013) Brandi Howard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

(2013) Elena A B Azizan et al.   NATURE GENETICS

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

(2013) Ute I Scholl et al.   NATURE GENETICS

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

(2013) Felix Beuschlein et al.   NATURE GENETICS

Task3 Potassium Channel Gene Invalidation Causes Low Renin and Salt-Sensitive Arterial Hypertension

(2012) David Penton et al.   ENDOCRINOLOGY

TASK-3 Channel Deletion in Mice Recapitulates Low-Renin Essential Hypertension

(2012) Nick A. Guagliardo et al.   HYPERTENSION

Prevalence, Clinical, and Molecular Correlates of KCNJ5 Mutations in Primary Aldosteronism

(2012) Sheerazed Boulkroun et al.   HYPERTENSION

Variations in the Potassium Channel GenesKCNK3andKCNK9in Relation to Blood Pressure and Aldosterone Production: An Exploratory Study

(2012) Jeesun Jung et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Expression and Mutations of KCNJ5 mRNA in Japanese Patients with Aldosterone-Producing Adenomas

(2012) Ryo Taguchi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter

(2012) Tobias Åkerström et al.   PLoS One

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

(2012) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prevalence and Characteristics of Familial Hyperaldosteronism

(2011) Paolo Mulatero et al.   HYPERTENSION

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

(2011) Paolo Mulatero et al.   HYPERTENSION

Adrenocortical carcinoma: a clinician's update

(2011) Martin Fassnacht et al.   Nature Reviews Endocrinology

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

(2011) M. Choi et al.   SCIENCE

Constitutive β-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development

(2010) Annabel Berthon et al.   HUMAN MOLECULAR GENETICS

Adrenocortical Zonation in Humans under Normal and Pathological Conditions

(2010) Koshiro Nishimoto et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism

(2008) David S. Geller et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Actions of aldosterone in the cardiovascular system: the good, the bad, and the ugly?

(2008) Michael Gekle et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

TASK channel deletion in mice causes primary hyperaldosteronism

(2008) L. A. Davies et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA