Associated Papers
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
CACNA1D-Related Channelopathies: From Hypertension to Autism.
Ortner NJ
Handbook of Experimental Pharmacology, 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
The effect of alterations of schizophrenia-associated genes on gamma band oscillations.
Metzner C et al.
Schizophrenia (heidelberg, Germany), 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
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
De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism.
Ortner NJ 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
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.
Mäki-Marttunen T et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Genetic Characterization of GnRH/LH-Responsive Primary Aldosteronism.
Gagnon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Pinggera A et al.
Channels (austin, Tex.), 2018
Genetic Causes of Functional Adrenocortical Adenomas.
Zennaro MC et al.
Endocrine Reviews, 2017
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
Of channels and pumps: different ways to boost the aldosterone?
Bandulik S
Acta Physiologica (oxford, England), 2017
Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
Pinggera A et al.
The Journal of Physiology, 2016
Regulation of aldosterone secretion by Cav1.3.
Xie CB et al.
Scientific Reports, 2016
Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.
Fernandes-Rosa FL 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
Adrenal nodularity and somatic mutations in primary aldosteronism: one node is the culprit?
Dekkers T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Overview of the genetic determinants of primary aldosteronism.
Al-Salameh A et al.
The Application of Clinical Genetics, 2014
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Azizan EA et al.
Nature Genetics, 2013
[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].
Semenova NA et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 0