De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism
Authors
Keywords
-
Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 472, Issue 7, Pages 755-773
Publisher
Springer Science and Business Media LLC
Online
2020-06-24
DOI
10.1007/s00424-020-02418-w
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Old and new genes in primary aldosteronism
- (2020) Sheerazed Boulkroun et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
- (2020) Nadja T. Hofer et al. Molecular Autism
- The Potential of L-Type Calcium Channels as a Drug Target for Neuroprotective Therapy in Parkinson's Disease
- (2019) Birgit Liss et al. Annual Review of Pharmacology and Toxicology
- Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks
- (2019) Kazutaka Nanba et al. HYPERTENSION
- The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
- (2019) Shasha Long et al. Frontiers in Neurology
- Resting-State Structure and Gating Mechanism of a Voltage-Gated Sodium Channel
- (2019) Goragot Wisedchaisri et al. CELL
- Felodipine induces autophagy in mouse brains with pharmacokinetics amenable to repurposing
- (2019) Farah H. Siddiqi et al. Nature Communications
- Cryo-EM structures of apo and antagonist-bound human Cav3.1
- (2019) Yanyu Zhao et al. NATURE
- Structure of the Cardiac Sodium Channel
- (2019) Daohua Jiang et al. CELL
- Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
- (2019) Jian Jiao et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
- (2018) Jean Chemin et al. BRAIN
- Systemic isradipine treatment diminishes calcium-dependent mitochondrial oxidant stress
- (2018) Jaime N. Guzman et al. JOURNAL OF CLINICAL INVESTIGATION
- Structural basis for gating pore current in periodic paralysis
- (2018) Daohua Jiang et al. NATURE
- SWISS-MODEL: homology modelling of protein structures and complexes
- (2018) Andrew Waterhouse et al. NUCLEIC ACIDS RESEARCH
- Calcium channel gating
- (2018) S. Hering et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Cellular and Genetic Causes of Idiopathic Hyperaldosteronism
- (2018) Kei Omata et al. HYPERTENSION
- Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D
- (2018) Edgar Garza-Lopez et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- (2018) Katherine L. Helbig et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic Causes of Functional Adrenocortical Adenomas
- (2017) Maria-Christina Zennaro et al. ENDOCRINE REVIEWS
- Genomic diagnostics within a medically underserved population: efficacy and implications
- (2017) Kevin A Strauss et al. GENETICS IN MEDICINE
- New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
- (2017) Alexandra Pinggera et al. HUMAN MOLECULAR GENETICS
- Aldosterone-Producing AdenomasNovelty and Significance
- (2017) Geok Chin Tan et al. HYPERTENSION
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- (2017) Marilyn M. Li et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Lower Affinity of Isradipine for L-Type Ca 2+ Channels during Substantia Nigra Dopamine Neuron-Like Activity: Implications for Neuroprotection in Parkinson's Disease
- (2017) Nadine J. Ortner et al. JOURNAL OF NEUROSCIENCE
- Enhancing VTA Cav1.3 L-type Ca2+ channel activity promotes cocaine and mood-related behaviors via overlapping AMPA receptor mechanisms in the nucleus accumbens
- (2017) A Martínez-Rivera et al. MOLECULAR PSYCHIATRY
- A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
- (2017) SE Flanagan et al. PEDIATRIC DIABETES
- Structures of closed and open states of a voltage-gated sodium channel
- (2017) Michael J. Lenaeus et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Molecular Heterogeneity in Aldosterone-Producing Adenomas
- (2016) Kazutaka Nanba et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase orCACNA1DGene Mutations
- (2016) Takumi Kitamoto et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Histopathological classification of cross-sectional image negative hyperaldosteronism
- (2016) Yuto Yamazaki et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Role of voltage-gated calcium channels in the regulation of aldosterone production from zona glomerulosa cells of the adrenal cortex
- (2016) Paula Q. Barrett et al. JOURNAL OF PHYSIOLOGY-LONDON
- L-type Ca2+ channels in mood, cognition and addiction: integrating human and rodent studies with a focus on behavioural endophenotypes
- (2016) Z. D. Kabir et al. JOURNAL OF PHYSIOLOGY-LONDON
- Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution
- (2016) Jianping Wu et al. NATURE
- Novel genetic determinants of adrenal aldosterone regulation
- (2016) Elena A.B. Azizan et al. Current Opinion in Endocrinology Diabetes and Obesity
- An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca2+-dependent regulation
- (2016) Worawan B. Limpitikul et al. Scientific Reports
- CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels
- (2015) Alexandra Pinggera et al. BIOLOGICAL PSYCHIATRY
- The L-type calcium channel Cav1.3 is required for proper hippocampal neurogenesis and cognitive functions
- (2015) Julia Marschallinger et al. CELL CALCIUM
- Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype
- (2015) Ute I. Scholl et al. CLINICAL ENDOCRINOLOGY
- Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas
- (2015) Tobias Åkerström et al. ENDOCRINE-RELATED CANCER
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- An Update on Familial Hyperaldosteronism
- (2015) H. Korah et al. HORMONE AND METABOLIC RESEARCH
- Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing AdenomaNovelty and Significance
- (2015) Fang-Fang Zheng et al. HYPERTENSION
- Prevalence and Characterization of Somatic Mutations in Chinese Aldosterone-Producing Adenoma Patients
- (2015) Baojun Wang et al. MEDICINE
- Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands
- (2015) Koshiro Nishimoto et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
- (2015) Ute I Scholl et al. eLife
- Cav1.3 Channels as Key Regulators of Neuron-Like Firings and Catecholamine Release in Chromaffin Cells
- (2015) David Vandael et al. Current Molecular Pharmacology
- Calcium Channel Mutations in Cardiac Arrhythmia Syndromes
- (2015) Matthew Betzenhauser et al. Current Molecular Pharmacology
- C-Terminal Modulatory Domain Controls Coupling of Voltage-Sensing to Pore Opening in Cav1.3 L-type Ca2+ Channels
- (2014) Andreas Lieb et al. BIOPHYSICAL JOURNAL
- The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function
- (2014) Stefan M. Berger et al. CELL AND TISSUE RESEARCH
- Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
- (2014) Fabio Luiz Fernandes-Rosa et al. HYPERTENSION
- Voltage-gated calcium channels in the human adrenal and primary aldosteronism
- (2014) Saulo J.A. Felizola et al. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Lonely but diverse
- (2013) Jörg Striessnig Channels
- Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
- (2013) Elena A B Azizan et al. NATURE GENETICS
- Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
- (2013) Ute I Scholl et al. NATURE GENETICS
- Alternative splicing: Functional diversity among voltage-gated calcium channels and behavioral consequences
- (2012) Diane Lipscombe et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- The human L-type calcium channel Cav1.3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes
- (2012) T. M. Reinbothe et al. DIABETOLOGIA
- Synaptic Refinement of an Inhibitory Topographic Map in the Auditory Brainstem Requires Functional CaV1.3 Calcium Channels
- (2012) J. J. Hirtz et al. JOURNAL OF NEUROSCIENCE
- Forebrain elimination of cacna1c mediates anxiety-like behavior in mice
- (2012) A S Lee et al. MOLECULAR PSYCHIATRY
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Pathophysiological Role of Omega Pore Current in Channelopathies
- (2012) Karin Jurkat-Rott et al. Frontiers in Pharmacology
- Functional roles of Cav1.3, Cav3.1 and HCN channels in automaticity of mouse atrioventricular cells
- (2011) Laurine Marger et al. Channels
- Functional Properties of a Newly Identified C-terminal Splice Variant of Cav1.3 L-type Ca2+Channels
- (2011) Gabriella Bock et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Cav1.3 Calcium Channels Are Required for Normal Development of the Auditory Brainstem
- (2011) J. J. Hirtz et al. JOURNAL OF NEUROSCIENCE
- Cav1.2 L-Type Ca2+ Channels Mediate Cocaine-Induced GluA1 Trafficking in the Nucleus Accumbens, a Long-Term Adaptation Dependent on Ventral Tegmental Area Cav1.3 Channels
- (2011) K. Schierberl et al. JOURNAL OF NEUROSCIENCE
- Loss of Cav1.3 Channels Reveals the Critical Role of L-Type and BK Channel Coupling in Pacemaking Mouse Adrenal Chromaffin Cells
- (2010) A. Marcantoni et al. JOURNAL OF NEUROSCIENCE
- Molecular Switch from L-Type Cav1.3 to Cav1.2 Ca2+ Channel Signaling Underlies Long-Term Psychostimulant-Induced Behavioral and Molecular Plasticity
- (2010) T. P. Giordano et al. JOURNAL OF NEUROSCIENCE
- Voltage-sensor mutations in channelopathies of skeletal muscle
- (2010) Stephen C. Cannon JOURNAL OF PHYSIOLOGY-LONDON
- Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
- (2010) Shahid M Baig et al. NATURE NEUROSCIENCE
- CaV2.1 channelopathies
- (2010) Daniela Pietrobon PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels
- (2010) Jörg Striessnig et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype
- (2009) Perrine Busquet et al. INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
- Impaired long-term potentiation and enhanced neuronal excitability in the amygdala of CaV1.3 knockout mice
- (2009) Brandon C. McKinney et al. NEUROBIOLOGY OF LEARNING AND MEMORY
- CaV1.2 channelopathies: from arrhythmias to autism, bipolar disorder, and immunodeficiency
- (2009) Ping Liao et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Modulation of Voltage- and Ca2+-dependent Gating of CaV1.3 L-type Calcium Channels by Alternative Splicing of a C-terminal Regulatory Domain
- (2008) Anamika Singh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Expression and 1,4-Dihydropyridine-Binding Properties of Brain L-Type Calcium Channel Isoforms
- (2008) M. J. Sinnegger-Brauns et al. MOLECULAR PHARMACOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search