Associated Papers
Adrenal causes of endocrine hypertension in childhood or adolescence.
Pellegrini B et al.
Journal of Endocrinological Investigation, 2025
CACNA1D is a circadian gene and causes familial advanced sleep phase.
Webb JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.
Stölting G et al.
Jci Insight, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 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
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Pitsava G et al.
Current Cardiology Reports, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
Characteristics of a Novel ATP2B3 K416_F418delinsN Mutation in a Classical Aldosterone-Producing Adenoma.
Liao HW et al.
Cancers, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 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
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.
De Mingo Alemany MC et al.
Channels (austin, Tex.), 2020
Pathogenesis and treatment of primary aldosteronism.
Zennaro MC et al.
Nature Reviews. Endocrinology, 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
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
Ion Transporters, Channelopathies, and Glucose Disorders.
Demirbilek H et al.
International Journal of Molecular Sciences, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
Timeline of Advances in Genetics of Primary Aldosteronism.
Meyer LS et al.
Experientia Supplementum (2012), 2019
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
Monticone S et al.
European Journal of Endocrinology, 2018
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.
Lu M et al.
Annals of the New York Academy of Sciences, 2018
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Pinggera A et al.
Channels (austin, Tex.), 2018
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Pinggera A et al.
Human Molecular Genetics, 2017
Somatic and inherited mutations in primary aldosteronism.
Fernandes-Rosa FL et al.
Journal of Molecular Endocrinology, 2017
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.
Flanagan SE et al.
Pediatric Diabetes, 2017
Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
Pinggera A et al.
The Journal of Physiology, 2016
An Update on Familial Hyperaldosteronism.
Korah HE et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2015
[Genetic alterations in primary aldosteronism].
Zennaro MC et al.
Medecine Sciences : M/s, 2015
An update on novel mechanisms of primary aldosteronism.
Zennaro MC et al.
The Journal of Endocrinology, 2015
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
Monticone S et al.
Molecular and Cellular Endocrinology, 2015
Progress in the identification of responsible genes and molecular mechanisms in primary aldosteronism.
McManus F et al.
Expert Review of Endocrinology & Metabolism, 2014
Overview of the genetic determinants of primary aldosteronism.
Al-Salameh A et al.
The Application of Clinical Genetics, 2014
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Scholl UI et al.
Nature Genetics, 2013