Associated Papers
KCNJ5 mutations in familial and non-familial primary aldosteronism.
Al-Salameh A
European Journal of Endocrinology, 2024
Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
Mulatero P et al.
European Journal of Endocrinology, 2024
Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.
Araujo-Castro M et al.
Frontiers in Endocrinology, 2024
Relevance of KCNJ5 in Pathologies of Heart Disease.
Meyer KM et al.
International Journal of Molecular Sciences, 2023
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Pitsava G et al.
Current Cardiology Reports, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma.
Gomez-Sanchez CE et al.
Frontiers in Endocrinology, 2022
Progress on Genetic Basis of Primary Aldosteronism.
Karwacka I et al.
Biomedicines, 2021
Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.
Wu CH et al.
Biomedicines, 2021
Pathogenesis and treatment of primary aldosteronism.
Zennaro MC et al.
Nature Reviews. Endocrinology, 2020
Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.
Vaduva P et al.
Journal of the Endocrine Society, 2020
Primary aldosteronism diagnostics: KCNJ5 mutations and hybrid steroid synthesis in aldosterone-producing adenomas.
Rege J et al.
Gland Surgery, 2020
A de novo mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset hypertension.
Shi X et al.
Journal of Hypertension, 2019
Familial hyperaldosteronism type III a novel case and review of literature.
Pons Fernández N et al.
Reviews in Endocrine & Metabolic Disorders, 2019
Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.
Perez-Rivas LG et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019
Familial hyperaldosteronism type III.
Monticone S et al.
Journal of Human Hypertension, 2017
A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.
Uchida N et al.
Journal of the Endocrine Society, 2017
Somatic and inherited mutations in primary aldosteronism.
Fernandes-Rosa FL et al.
Journal of Molecular Endocrinology, 2017
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3.
Gomez-Sanchez CE et al.
Molecular and Cellular Endocrinology, 2017
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.
Sertedaki A et al.
Clinical Endocrinology, 2016
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.
Zennaro MC et al.
Annales D'endocrinologie, 2016
An Update on Familial Hyperaldosteronism.
Korah HE et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2015
Inherited forms of mineralocorticoid hypertension.
Zennaro MC et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
The molecular basis of primary aldosteronism: from chimeric gene to channelopathy.
Lenzini L et al.
Current Opinion in Pharmacology, 2015
Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.
Wang B et al.
Medicine, 2015
[Genetic alterations in primary aldosteronism].
Zennaro MC et al.
Medecine Sciences : M/s, 2015
An update on novel mechanisms of primary aldosteronism.
Zennaro MC et al.
The Journal of Endocrinology, 2015
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
Monticone S et al.
Molecular and Cellular Endocrinology, 2015
Altered and dynamic ion selectivity of K+ channels in cell development and excitability.
Chen H et al.
Trends in Pharmacological Sciences, 2014
A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.
Kuppusamy M et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.
Tauber P et al.
Endocrinology, 2014
Minireview: potassium channels and aldosterone dysregulation: is primary aldosteronism a potassium channelopathy?
Gomez-Sanchez CE et al.
Endocrinology, 2014
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature.
Adachi M et al.
Hormone Research in Paediatrics, 2014
Regulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channel.
Velarde-Miranda C et al.
Clinical and Experimental Pharmacology & Physiology, 2013
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
Monticone S et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Genetics of mineralocorticoid excess: an update for clinicians.
Zennaro MC et al.
European Journal of Endocrinology, 2013
New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.
Scholl UI et al.
Current Opinion in Nephrology and Hypertension, 2013
Role of KCNJ5 in familial and sporadic primary aldosteronism.
Mulatero P et al.
Nature Reviews. Endocrinology, 2013
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
Charmandari E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
Åkerström T et al.
Plos One, 2012