4.5 Review

Update on the Molecular Genetics of Timothy Syndrome

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Physiology

Voltage-Gated Calcium Channels in Nonexcitable Tissues

Geoffrey S. Pitt et al.

Summary: The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome has shed light on the roles of VGCCs in nonexcitable cells. The functions and consequences of VGCCs in nonexcitable cells remain critical questions for further investigation.

ANNUAL REVIEW OF PHYSIOLOGY, VOL 83 (2021)

Article Biochemistry & Molecular Biology

Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain

Michael B. Clark et al.

MOLECULAR PSYCHIATRY (2020)

Article Cardiac & Cardiovascular Systems

High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8

Megumi Fukuyama et al.

CIRCULATION JOURNAL (2020)

Letter Cardiac & Cardiovascular Systems

Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

Ken Kelu Bisabu et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)

Review Genetics & Heredity

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

Cindy Colson et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Review Medicine, Research & Experimental

Highlight article: Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside

Dan Han et al.

EXPERIMENTAL BIOLOGY AND MEDICINE (2019)

Letter Clinical Neurology

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype

Chiara Po' et al.

CLINICAL NEUROPHYSIOLOGY (2019)

Article Genetics & Heredity

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy

R. J. McKinlay Gardner et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Article Genetics & Heredity

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval

Rika Kosaki et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Psychiatry

CACNA1C: Association With Psychiatric Disorders, Behavior, and Neurogenesis

Anna L. Moon et al.

SCHIZOPHRENIA BULLETIN (2018)

Article Cardiac & Cardiovascular Systems

Clinical Outcomes and Modes of Death in Timothy Syndrome A Multicenter International Study of a Rare Disorder

Keith A. Dufendach et al.

JACC-CLINICAL ELECTROPHYSIOLOGY (2018)

Article Genetics & Heredity

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Amandine Baurand et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Multidisciplinary Sciences

Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm

Marina Cerrone et al.

NATURE COMMUNICATIONS (2017)

Article Cell & Tissue Engineering

Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome

LouJin Song et al.

STEM CELL REPORTS (2017)

Article Genetics & Heredity

Timothy Syndrome 1 Genotype without Syndactyly and Major Extracardiac Manifestations

Robert Sepp et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Multidisciplinary Sciences

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation

Ivy E. Dick et al.

NATURE COMMUNICATIONS (2016)

Article Genetics & Heredity

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocio Acuna-Hidalgo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

Expanding the Phenotype of Timothy Syndrome Type 2: An Adolescent with Ventricular Fibrillation but Normal Development

Anita Hiippala et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Cardiac & Cardiovascular Systems

Novel Timothy syndrome mutation leading to increase in CACNA1C window current

Nicole J. Boczek et al.

HEART RHYTHM (2015)

Article Cardiac & Cardiovascular Systems

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Konstantin Wemhoener et al.

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2015)

Article Cardiac & Cardiovascular Systems

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

Megumi Fukuyama et al.

EUROPACE (2014)

Article Cardiac & Cardiovascular Systems

Inhibition of Late Sodium Current by Mexiletine: A Novel Pharmotherapeutical Approach in Timothy Syndrome

Yuanfeng Gao et al.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2013)

Article Medicine, Research & Experimental

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

Kapil V. Ramachandran et al.

JOURNAL OF CLINICAL INVESTIGATION (2013)

Article Cardiac & Cardiovascular Systems

Modeling Timothy Syndrome with iPS Cells

Masayuki Yazawa et al.

JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH (2013)

Article Genetics & Heredity

Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation: Expanding the Spectrum of Timothy Syndrome

Jane Gillis et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Multidisciplinary Sciences

Calcineurin Controls Voltage-Dependent-Inactivation (VDI) of the Normal and Timothy Cardiac Channels

Moshe Cohen-Kutner et al.

SCIENTIFIC REPORTS (2012)

Review Physiology

Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythrnias

Maaike Hoekstra et al.

FRONTIERS IN PHYSIOLOGY (2012)

Article Genetics & Heredity

Somatic Mosaicism Contributes to Phenotypic Variation in Timothy Syndrome

Susan P. Etheridge et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Letter Cardiac & Cardiovascular Systems

A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)

U. Krause et al.

CLINICAL RESEARCH IN CARDIOLOGY (2011)

Article Biochemistry & Molecular Biology

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

Sergiu P. Pasca et al.

NATURE MEDICINE (2011)

Article Multidisciplinary Sciences

Mouse model of Timothy syndrome recapitulates triad of autistic traits

Patrick L. Bader et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Biochemistry & Molecular Biology

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

E. K. Green et al.

MOLECULAR PSYCHIATRY (2010)

Letter Biochemistry & Molecular Biology

CACNA1C (rs1006737) is associated with schizophrenia

M. Nyegaard et al.

MOLECULAR PSYCHIATRY (2010)

Article Multidisciplinary Sciences

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels

Curtis F. Barrett et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Multidisciplinary Sciences

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

I Splawski et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

Functional embryonic cardiomyocytes after disruption of the L-type α1C (Cav1.2) calcium channel gene in the mouse

C Seisenberger et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)