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
New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
Yan Q et al.
Frontiers in Medicine, 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
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
Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.
Souza IA et al.
Molecular Brain, 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
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
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
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
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Splice-variant-specific effects of primary aldosteronism point mutations on human CaV3.2 calcium channels.
He M et al.
Cell Calcium, 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
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
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
Monticone S et al.
European Journal of Endocrinology, 2018
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