Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
about
Recent advances in the pathogenesis of syndromic autismsGenetics of bipolar disorderAdvances in autism genetics: on the threshold of a new neurobiologyDefective calcium inactivation causes long QT in obese insulin-resistant ratA CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Voltage-gated Nav channel targeting in the heart requires an ankyrin-G dependent cellular pathwayLoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessSCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndromeSevere arrhythmia disorder caused by cardiac L-type calcium channel mutationsSpectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testMitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysisHigh-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate geneSignaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous systemThe genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disordersLoss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac deathThe role of neuronal complexes in human X-linked brain diseasesTherapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryNext-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death CasesFunctional Properties of Human Stem Cell-Derived Neurons in Health and DiseaseInduced pluripotent stem cells for modeling neurological disordersInduced Pluripotent Stem Cells as a Novel Tool in Psychiatric ResearchCounteracting Protein Kinase Activity in the Heart: The Multiple Roles of Protein PhosphatasesGenetics of channelopathies associated with sudden cardiac deathThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialGenetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersGenetics of inherited primary arrhythmia disordersCardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem CellsLong-QT syndrome: from genetics to managementModeling neurodevelopmental disorders using human neuronsMolecular and genetic basis of sudden cardiac deathCaV1.2 signaling complexes in the heartInduced pluripotent stem cell-derived cardiomyocytes for cardiovascular disease modeling and drug screeningIon Channels in the HeartL-type calcium channel targeting and local signalling in cardiac myocytesInduced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmiasGenome-scale neurogenetics: methodology and meaningChannelopathy pathogenesis in autism spectrum disordersThe molecular basis of cognitive deficits in pervasive developmental disordersWrecked regulation of intrinsically disordered proteins in diseases: pathogenicity of deregulated regulatorsTowards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium Channels
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P2860
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
description
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im Oktober 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/10/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/10/01)
@nl
наукова стаття, опублікована в жовтні 2004
@uk
مقالة علمية (نشرت في أكتوبر 2004)
@ar
name
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@ast
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@en
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@nl
type
label
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@ast
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@en
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@nl
prefLabel
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@ast
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@en
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@nl
P2093
P50
P921
P3181
P1433
P1476
Ca(V)1.2 calcium channel dysfu ...... ncluding arrhythmia and autism
@en
P2093
Igor Splawski
Karen Condouris
Katherine W. Timothy
Leah M. Sharpe
Mark T. Keating
Michael C. Sanguinetti
Pradeep Kumar
Raffaella Bloise
Robert M. Joseph
Silvia G. Priori
P3181
P356
10.1016/J.CELL.2004.09.011
P407
P577
2004-10-01T00:00:00Z