Associated Papers
Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers.
Török F et al.
British Journal of Pharmacology, 2025
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
L-type calcium channels and neuropsychiatric diseases: Insights into genetic risk variant-associated genomic regulation and impact on brain development.
Baker MR et al.
Channels (austin, Tex.), 2023
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A et al.
Frontiers in Neurology, 2023
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S et al.
International Journal of Molecular Sciences, 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
Stabilization of negative activation voltages of Cav1.3 L-Type Ca2+-channels by alternative splicing.
Hofer NT et al.
Channels (austin, Tex.), 2021
Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.
Wu CH et al.
Biomedicines, 2021
Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.
Shimada H et al.
Biomedicines, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 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
Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.
Nanba K et al.
Frontiers in Endocrinology, 2021
Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients.
Nanba K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 2020
Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.
De Sousa K et al.
Hypertension (dallas, Tex. : 1979), 2020
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT et al.
Molecular Autism, 2020
Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.
Omata K et al.
Hypertension (dallas, Tex. : 1979), 2018
Genetic Causes of Functional Adrenocortical Adenomas.
Zennaro MC et al.
Endocrine Reviews, 2017
Histopathological Classification of Cross-Sectional Image-Negative Hyperaldosteronism.
Yamazaki Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
Pinggera A et al.
The Journal of Physiology, 2016
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
Monticone S et al.
Molecular and Cellular Endocrinology, 2015
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
Fernandes-Rosa FL et al.
Hypertension (dallas, Tex. : 1979), 2014