Associated Papers
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Underwood JFG et al.
Research Square, 2025
Nutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.
Mazzanti A et al.
Advances in Nutrition (bethesda, Md.), 2025
The role of the risk gene CACNA1C in neuroinflammation and peripheral immunity in autism spectrum disorder.
Boller AL et al.
Brain, Behavior, and Immunity, 2025
Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.
Wang Z et al.
Cell Genomics, 2025
The Evolving Landscape of Functional Models of Autism Spectrum Disorder.
Ranjan J et al.
Cells, 2025
Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.
Craddock R et al.
Cerebral Cortex (new York, N.y. : 1991), 2025
Exploring human brain development and disease using assembloids.
Wu SR et al.
Neuron, 2025
A Novel Gain-of-Function CACNA1C Variant (Gly856Asp) Associated With QT Prolongation and Sudden Death.
Tadros R et al.
Jacc. Case Reports, 2025
Elevated body temperature exacerbates arrhythmia and seizure-like activity in a zebrafish model of Timothy syndrome.
Semenova SA et al.
Biorxiv : the Preprint Server for Biology, 2025
Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.
Kaiser J et al.
Biological Psychiatry, 2025
Management of ultrarare inherited arrhythmia syndromes.
Roston TM et al.
Heart Rhythm, 2025
Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.
Lado W et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
CACNA1G, A Heterotaxy Candidate Gene, Plays a Role in Ciliogenesis and Left-Right Patterning in Xenopus tropicalis.
Kostiuk V et al.
Genesis (new York, N.y. : 2000), 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Clinical characteristics and gene analysis of long QT syndrome in 15 children.
Yiwei L et al.
Frontiers in Pediatrics, 2025
A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome.
Trancuccio A et al.
Scientific Reports, 2024
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Orphanet Journal of Rare Diseases, 2024
Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Matsui M et al.
Nature Communications, 2024
Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.
Jiang C et al.
Stem Cell Research, 2024
Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series.
Zheng EE et al.
The Journal of Hand Surgery, 2024
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X et al.
Nature, 2024
International Cohort of Neonatal Timothy Syndrome.
Matthews A et al.
Neonatology, 2024
Human Genetics of Cardiac Arrhythmias.
Schulze-Bahr E et al.
Advances in Experimental Medicine and Biology, 2024
Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.
Scacchi S et al.
Plos One, 2024
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
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Asymmetric Contribution of a Selectivity Filter Gate in Triggering Inactivation of CaV1.3 Channels.
Del Rivero Morfin PJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C et al.
Expert Reviews in Molecular Medicine, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 2023
Cardiac Repolarization in Health and Disease.
Krijger Juárez C et al.
Jacc. Clinical Electrophysiology, 2023
CACNA1C-Related Channelopathies.
Herold KG et al.
Handbook of Experimental Pharmacology, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
Unexpected impairment of INa underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome.
Porta-Sánchez A et al.
Nature Cardiovascular Research, 2023
The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome.
Sanderson JL et al.
Neuropharmacology, 2022
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
Impaired CaV1.2 inactivation reduces the efficacy of calcium channel blockers in the treatment of LQT8.
Bamgboye MA et al.
Journal of Molecular and Cellular Cardiology, 2022
A CACNA1C variant associated with cardiac arrhythmias provides mechanistic insights in the calmodulation of L-type Ca2+ channels.
Zhao J et al.
The Journal of Biological Chemistry, 2022
Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression.
Trus M et al.
Cell Calcium, 2022
Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.
Ozawa J et al.
Scientific Reports, 2022