Associated Papers
Recurrent CACNA1HE282K is a gain-of-function mutation associated with primary hyperaldosteronism.
Li R et al.
European Journal of Endocrinology, 2026
Adrenal causes of endocrine hypertension in childhood or adolescence.
Pellegrini B et al.
Journal of Endocrinological Investigation, 2025
Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
Gallegos FR et al.
American Journal of Hypertension, 2025
New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
Yan Q et al.
Frontiers in Medicine, 2025
The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.
Long KC et al.
Frontiers in Endocrinology, 2025
Genetic variants and down-regulation of CACNA1H in pheochromocytoma.
Svahn F et al.
Endocrine-related Cancer, 2024
Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
Mulatero P et al.
European Journal of Endocrinology, 2024
Primary aldosteronism: molecular medicine meets public health.
Azizan EAB et al.
Nature Reviews. Nephrology, 2023
A genomic deep field view of hypertension.
Garimella PS et al.
Kidney International, 2023
CaV3.2 (CACNA1H) in Primary Aldosteronism.
Dinh HA et al.
Handbook of Experimental Pharmacology, 2023
Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2022
Pathophysiology of bilateral hyperaldosteronism.
Nanba K et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2022
Genetics of Primary Aldosteronism.
Scholl UI
Hypertension (dallas, Tex. : 1979), 2022
A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.
Tseng CS et al.
Frontiers in Endocrinology, 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
Progress on Genetic Basis of Primary Aldosteronism.
Karwacka I et al.
Biomedicines, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y et al.
Brain : a Journal of Neurology, 2021
GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.
Nanba K et al.
European Journal of Endocrinology, 2021
Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+ ).
Seidel E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Unravelling the Genetic Basis of Primary Aldosteronism.
Mourtzi N et al.
Nutrients, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
CACNA1H Calcium Channel Mutations in Primary Aldosteronism - Is Sodium the Culprit?
Stölting G et al.
Endocrinology, 2020
Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism.
Gürtler F et al.
Endocrinology, 2020
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
Neuronal Cav3 channelopathies: recent progress and perspectives.
Lory P et al.
Pflugers Archiv : European Journal of Physiology, 2020
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma.
Nanba K et al.
Hypertension (dallas, Tex. : 1979), 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Molecular Mechanisms of Primary Aldosteronism.
Tevosian SG et al.
Endocrinology and Metabolism (seoul, Korea), 2019
Genetic causes of primary aldosteronism.
Seidel E et al.
Experimental & Molecular Medicine, 2019
Molecular mechanisms in primary aldosteronism
De Sousa K et al.
Journal of Molecular Endocrinology, 2019
Primary aldosteronism associated with a germline variant in CACNA1H.
Wulczyn K et al.
Bmj Case Reports, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow DB et al.
Journal of Genetic Counseling, 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
Timeline of Advances in Genetics of Primary Aldosteronism.
Meyer LS et al.
Experientia Supplementum (2012), 2019
Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.
Aristizabal Prada ET et al.
International Journal of Molecular Sciences, 2018
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.
Lyons JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
Monticone S et al.
European Journal of Endocrinology, 2018
Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels.
Sanchez-Sandoval AL et al.
Plos One, 2018
The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity.
Mete O et al.
Frontiers in Medicine, 2018
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
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Daniil G et al.
Ebiomedicine, 2016
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
CACNA1H(M1549V) Mutant Calcium Channel Causes Autonomous Aldosterone Production in HAC15 Cells and Is Inhibited by Mibefradil.
Reimer EN et al.
Endocrinology, 2016
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.
Zennaro MC et al.
Annales D'endocrinologie, 2016