Associated Papers
KCNJ5 mutations in familial and non-familial primary aldosteronism.
Al-Salameh A
European Journal of Endocrinology, 2024
Relevance of KCNJ5 in Pathologies of Heart Disease.
Meyer KM et al.
International Journal of Molecular Sciences, 2023
Pathophysiology of bilateral hyperaldosteronism.
Nanba K et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2022
A novel small-molecule selective activator of homomeric GIRK4 channels.
Cui M et al.
The Journal of Biological Chemistry, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).
Shalomov B et al.
The Journal of Physiology, 2022
How do Kir3.4 mutations cause hereditary hyperaldosteronism?
Kubo Y
The Journal of Physiology, 2022
Progress on Genetic Basis of Primary Aldosteronism.
Karwacka I et al.
Biomedicines, 2021
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation.
Yamada N et al.
Circulation, 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 Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K+ Channel) Channel Function.
Kuß J et al.
Circulation. Genomic and Precision Medicine, 2019
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
Monticone S et al.
European Journal of Endocrinology, 2018
Familial hyperaldosteronism type III.
Monticone S et al.
Journal of Human Hypertension, 2017
Of channels and pumps: different ways to boost the aldosterone?
Bandulik S
Acta Physiologica (oxford, England), 2017
Somatic and inherited mutations in primary aldosteronism.
Fernandes-Rosa FL et al.
Journal of Molecular Endocrinology, 2017
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
[Genetic alterations in primary aldosteronism].
Zennaro MC et al.
Medecine Sciences : M/s, 2015
KCNJ5 mutations are the most frequent genetic alteration in primary aldosteronism.
Williams TA et al.
Hypertension (dallas, Tex. : 1979), 2015
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
Monticone S et al.
Molecular and Cellular Endocrinology, 2015
Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.
Cheng CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.
Murthy M et al.
Hypertension (dallas, Tex. : 1979), 2014
Overview of the genetic determinants of primary aldosteronism.
Al-Salameh A et al.
The Application of Clinical Genetics, 2014
The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population.
Zhang C et al.
Heart, Lung & Circulation, 2009
Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit.
Calloe K et al.
Biochemical and Biophysical Research Communications, 2007