4.3 Review

Somatic and inherited mutations in primary aldosteronism

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Biochemistry & Molecular Biology

ACTH and Polymorphisms at Steroidogenic Loci as Determinants of Aldosterone Secretion and Blood Pressure

Scott M. MacKenzie et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)

Article Cell Biology

Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3

Celso E. Gomez-Sanchez et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2017)

Article Multidisciplinary Sciences

The prevalence of CTNNB1 mutations in primary aldosteronism and consequences for clinical outcomes

Vin-Cent Wu et al.

SCIENTIFIC REPORTS (2017)

Article Peripheral Vascular Disease

Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing Adenomas

Tracy Ann Williams et al.

HYPERTENSION (2016)

Review Oncology

Genetics of primary hyperaldosteronism

Ravi Kumar Dutta et al.

ENDOCRINE-RELATED CANCER (2016)

Article Endocrinology & Metabolism

Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations

Kazutaka Nanba et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome

Anli Tong et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Molecular Heterogeneity in Aldosterone-Producing Adenomas

Kazutaka Nanba et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

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

Julien Vouillarrnet et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

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

John W. Funder et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Review Endocrinology & Metabolism

Adrenal and extra-adrenal functions of ACTH

Nicole Gallo-Payet

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2016)

Article Multidisciplinary Sciences

Activating mutations in CTNNB1 in aldosterone producing adenomas

Tobias Akerstrom et al.

SCIENTIFIC REPORTS (2016)

Review Endocrinology & Metabolism

Impact of ACTH Signaling on Transcriptional Regulation of Steroidogenic Genes

Carmen Ruggiero et al.

FRONTIERS IN ENDOCRINOLOGY (2016)

Article Medicine, General & Internal

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

Georgios Daniil et al.

EBIOMEDICINE (2016)

Article Multidisciplinary Sciences

Genetics of Aldosterone-Producing Adenoma in Korean Patients

A. Ram Hong et al.

PLOS ONE (2016)

Article Peripheral Vascular Disease

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions

P. Mulatero et al.

JOURNAL OF HUMAN HYPERTENSION (2016)

Article Oncology

Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas

Tobias Akerstrom et al.

ENDOCRINE-RELATED CANCER (2015)

Review Endocrinology & Metabolism

An Update on Familial Hyperaldosteronism

H. E. Korah et al.

HORMONE AND METABOLIC RESEARCH (2015)

Article Peripheral Vascular Disease

Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma

Fabio Luiz Fernandes-Rosa et al.

HYPERTENSION (2015)

Article Peripheral Vascular Disease

Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing Adenoma

Fang-Fang Zheng et al.

HYPERTENSION (2015)

Article Peripheral Vascular Disease

Comparison of Cardiovascular Complications in Patients with and without KCNJ5 Gene Mutations Harboring Aldosterone-producing Adenomas

Takumi Kitamoto et al.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2015)

Article Endocrinology & Metabolism

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

Silvia Monticone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

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

Livia Lenzini et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Novel KCNJ5 Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance

Chih-Jen Cheng et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Primary Aldosteronism and ARMC5 Variants

Mihail Zilbermint et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Cell Biology

Functional histopathological markers of aldosterone producing adenoma and somatic KCNJ5 mutations

Fabio Luiz Fernandes-Rosa et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2015)

Article Medicine, General & Internal

Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations

Ada E. D. Teo et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Multidisciplinary Sciences

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

Koshiro Nishimoto et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Review Endocrinology & Metabolism

From β-Catenin to ARM-Repeat Proteins in Adrenocortical Disorders

A. Berthon et al.

HORMONE AND METABOLIC RESEARCH (2014)

Article Biochemistry & Molecular Biology

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

Annabel Berthon et al.

HUMAN MOLECULAR GENETICS (2014)

Article Peripheral Vascular Disease

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

Tracy Ann Williams et al.

HYPERTENSION (2014)

Article Peripheral Vascular Disease

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

Fabio Luiz Fernandes-Rosa et al.

HYPERTENSION (2014)

Article Endocrinology & Metabolism

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

T. Dekkers et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

Silvia Monticone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Cell Biology

KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling

Sheerazed Boulkroun et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2013)

Article Genetics & Heredity

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

Elena A. B. Azizan et al.

NATURE GENETICS (2013)

Article Medicine, General & Internal

ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome

Guillaume Assie et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Endocrinology & Metabolism

Screening for primary aldosteronism in hypertensive subjects: results from two German epidemiological studies

A. Hannemann et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Peripheral Vascular Disease

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

Nick A. Guagliardo et al.

HYPERTENSION (2012)

Article Peripheral Vascular Disease

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

Sheerazed Boulkroun et al.

HYPERTENSION (2012)

Article Peripheral Vascular Disease

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

Paolo Mulatero et al.

HYPERTENSION (2012)

Article Endocrinology & Metabolism

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

Ryo Taguchi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

A Novel Point Mutation in the KCNJ5 Gene Causing Primary Hyperaldosteronism and Early-Onset Autosomal Dominant Hypertension

Evangelia Charmandari et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Somatic Mutations in the KCNJ5 Gene Raise the Lateralization Index: Implications for the Diagnosis of Primary Aldosteronism by Adrenal Vein Sampling

Teresa M. Seccia et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Effect of KCNJ5 Mutations on Gene Expression in Aldosterone-Producing Adenomas and Adrenocortical Cells

Silvia Monticone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Medicine, Research & Experimental

Zona glomerulosa cells of the mouse adrenal cortex are intrinsic electrical oscillators

Changlong Hu et al.

JOURNAL OF CLINICAL INVESTIGATION (2012)

Article Peripheral Vascular Disease

Characterization of a novel somatic KCNJ5 mutation delI157 in an aldosterone-producing adenoma

Meena Murthy et al.

JOURNAL OF HYPERTENSION (2012)

Article Cell Biology

Genes implicated in insulin resistance are down-regulated in primary aldosteronism patients

Tracy Ann Williams et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2012)

Review Cell Biology

Wnt/β-catenin signalling in adrenal physiology and tumour development

Annabel Berthon et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2012)

Article Multidisciplinary Sciences

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

Ute I. Scholl et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Multidisciplinary Sciences

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Ginevra Zanni et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Editorial Material Peripheral Vascular Disease

Is Familial Hyperaldosteronism Underdiagnosed in Hypertensive Children?

Paolo Mulatero et al.

HYPERTENSION (2011)

Review Cell Biology

The Wnt/beta-catenin pathway in adrenocortical development and cancer

Abeer El Wakil et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2011)

Article Biochemistry & Molecular Biology

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

Annabel Berthon et al.

HUMAN MOLECULAR GENETICS (2010)

Article Peripheral Vascular Disease

Adrenal Cortex Remodeling and Functional Zona Glomerulosa Hyperplasia in Primary Aldosteronism

Sheerazed Boulkroun et al.

HYPERTENSION (2010)

Article Endocrinology & Metabolism

Adrenocortical Zonation in Humans under Normal and Pathological Conditions

Koshiro Nishimoto et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Review Neurosciences

Signaling complexes of voltage-gated sodium and calcium channels

William A. Catterall

NEUROSCIENCE LETTERS (2010)

Article Physiology

Hyperaldosteronism, hypervolemia, and increased blood pressure in mice expressing defective APC

Madhuri Bhandaru et al.

AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY (2009)

Article Endocrinology & Metabolism

Update in Primary Aldosteronism

Michael Stowasser

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Review Biochemistry & Molecular Biology

The plasma membrane Ca2+ ATPase of animal cells:: Structure, function and regulation

Francesca Di Leva et al.

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2008)

Article Pharmacology & Pharmacy

Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II

Y. W. A. Jeska et al.

CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY (2008)

Article Endocrinology & Metabolism

A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism

David S. Geller et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Review Endocrinology & Metabolism

Case detection, diagnosis, and treatment of patients with primary aldosteronism: An endocrine society clinical practice guideline

John W. Funder et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Multidisciplinary Sciences

TASK channel deletion in mice causes primary hyperaldosteronism

Lucinda A. Davies et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Biochemistry & Molecular Biology

Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis

Dirk Heitzmann et al.

EMBO JOURNAL (2008)

Article Cardiac & Cardiovascular Systems

A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients

Gian Paolo Rossi et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2006)

Article Biochemistry & Molecular Biology

CACNA1H mutations in autism spectrum disorders

Igor Splawski et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Multidisciplinary Sciences

A third Na+-binding site in the sodium pump

CM Li et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Letter Peripheral Vascular Disease

Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting

F Pizzolo et al.

JOURNAL OF HUMAN HYPERTENSION (2005)

Article Clinical Neurology

Association between genetic variation of CACNA1H and childhood absence epilepsy

YC Chen et al.

ANNALS OF NEUROLOGY (2003)

Article Endocrinology & Metabolism

Wnt-4 deficiency alters mouse adrenal cortex function, reducing aldosterone production

M Heikkilä et al.

ENDOCRINOLOGY (2002)

Review Biochemistry & Molecular Biology

Familial hyperaldosteronism

M Stowasser et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2001)

Article Endocrinology & Metabolism

Treatment of familial hyperaldosteronism type I: Only partial suppression of adrenocorticotropin required to correct hypertension

M Stowasser et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)

Review Peripheral Vascular Disease

Primary aldosteronism: learning from the study of familial varieties

M Stowasser et al.

JOURNAL OF HYPERTENSION (2000)