Lista de obras -

2355: Phenotype and genotype in surviving relatives after sudden death in the young

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

article published in 2009

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

artículo científico publicado en 2018

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

artículo científico publicado en 2011

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1

artículo científico publicado en 2014

Activation of protein kinase C alters the intracellular distribution and mobility of cardiac Na+channels ⬇️

artículo científico publicado el 18 de noviembre de 2011

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

artículo científico publicado en 2002

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation

artículo científico publicado en 2020

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

scientific article published on 01 March 2020

Antiepileptic activity of preferential inhibitors of persistent sodium current

artículo científico publicado en 2014

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms

artículo científico publicado en 2014

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current

scientific journal article

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

artículo científico publicado en 2015

Azithromycin Causes a Novel Proarrhythmic Syndrome

artículo científico publicado en 2017

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice

artículo científico publicado en 2017

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

scientific article published on 01 September 2019

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Cardiac Evaluation of Children With a Family History of Sudden Death

scientific article published on 01 August 2019

Cardiac ion channels

artículo científico publicado en 2002

Cardiac potassium channel dysfunction in sudden infant death syndrome

artículo científico

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

artículo científico publicado en 2008

Cardiac sodium channel dysfunction in sudden infant death syndrome

artículo científico publicado en 2007

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

artículo científico publicado en 2017

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

artículo científico publicado en 2002

Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia

artículo científico publicado en 2012

Congenital long QT syndrome aggravated by salt-wasting nephropathy

artículo científico publicado en 2005

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

artículo científico publicado en 2003

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

artículo científico publicado en 2014

De novo KCNB1 mutations in epileptic encephalopathy

artículo científico publicado en 2014

Decoding KCNH2 variants of unknown significance

artículo científico publicado en 2019

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

artículo científico publicado en 2011

Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation

artículo científico publicado en 2020

Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits

artículo científico publicado en 2009

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia

artículo científico publicado en 2007

Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

artículo científico publicado en 2014

Divergent sodium channel defects in familial hemiplegic migraine

artículo científico publicado en 2008

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

artículo científico publicado en 2005

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

artículo científico publicado en 2017

Engineered cocultures of iPSC-derived atrial cardiomyocytes and atrial fibroblasts for modeling atrial fibrillation

artículo científico publicado en 2024

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant

artículo científico publicado en 2020

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

artículo científico publicado en 2003

Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome

artículo científico publicado en 2007

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome

artículo científico publicado en 2014

Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks).

artículo científico publicado en 2005

Extracellular sodium interacts with the HERG channel at an outer pore site

artículo científico publicado en 2002

Factor V Leiden protects against blood loss and transfusion after cardiac surgery

artículo científico publicado en 2003

Filtering approach based on empirical mode decomposition improves the assessment of short scale complexity in long QT syndrome type 1 population

Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy

artículo científico publicado en 2020

Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy

scientific article published on 15 July 2019

Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels

artículo científico publicado en 2004

Functional repair of a mutant chloride channel using a trans-splicing ribozyme

artículo científico publicado en 2002

GS-967 and Eleclazine Block Sodium Channels in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

scientific article published on 16 September 2020

Genetic Mosaicism in Calmodulinopathy

artículo científico publicado en 2019

Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives

artículo científico publicado en 2005

Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias

artículo científico publicado en 2009

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

artículo científico publicado en 2013

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

artículo científico publicado en 2013

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

artículo científico publicado en 2014

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

scientific article published on 01 November 2018

I Kr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines ⬇️

artículo científico publicado el 2 de octubre de 2003

Identification and Characterization of a Compound That Protects Cardiac Tissue from Human Ether-à-go-go-related Gene (hERG)-related Drug-induced Arrhythmias ⬇️

artículo científico publicado el 2 de octubre de 2012

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

artículo científico publicado en 2013

Impact of genetics on the clinical management of channelopathies

artículo científico publicado en 2013

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

artículo científico publicado en 2008

Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.

artículo científico publicado en 2006

In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia

artículo científico publicado en 2004

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

artículo científico publicado en 2007

Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels

artículo científico publicado en 2015

KCNE4 domains required for inhibition of KCNQ1.

artículo científico publicado en 2008

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

artículo científico publicado en 2005

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

artículo científico publicado en 2002

KCNQ1/KCNE1 assembly, co-translation not required ⬇️

artículo científico publicado en 2010

Long QT Syndrome Type 1 in an Australian Indigenous Patient

artículo científico publicado en 2020

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death

scientific article published on 08 June 2018

Long QT syndrome-associated mutations in intrauterine fetal death

artículo científico publicado en 2013

Low-Pass Filtering Approach via Empirical Mode Decomposition Improves Short-Scale Entropy-Based Complexity Estimation of QT Interval Variability in Long QT Syndrome Type 1 Patients

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel

artículo científico publicado en 2008

Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling ⬇️

artículo científico publicado el 1 de febrero de 2013

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

artículo científico publicado en 2018

Modifier genes for sudden cardiac death

scientific article published on 01 November 2018

Molecular physiology of renal ClC chloride channels/transporters

artículo científico publicado en 2006

Multiscale complexity analysis of the cardiac control identifies asymptomatic and symptomatic patients in long QT syndrome type 1.

artículo científico publicado en 2014

NOS1AP is a genetic modifier of the long-QT syndrome

artículo científico publicado en 2009

Nadolol block of Nav1.5 does not explain its efficacy in the long QT syndrome

artículo científico publicado en 2012

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

artículo científico publicado en 2017

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

artículo científico publicado en 2008

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

artículo científico publicado en 2006

Nontruncating SCN1A Mutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression ⬇️

artículo científico publicado el 19 de octubre de 2012

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

artículo científico publicado en 2008

Novel SCN3A variants associated with focal epilepsy in children

artículo científico publicado en 2013

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy

artículo científico publicado en 2014

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

artículo científico publicado en 2014

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

artículo científico publicado en 2016

Personalized biochemistry and biophysics

artículo científico publicado en 2015

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

artículo científico publicado en 2005

Polymorphic ventricular tachycardia and KCNJ2 mutations.

artículo científico publicado en 2004

Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome

artículo científico publicado en 2002

Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome

scientific article published on 20 May 2019

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

artículo científico publicado en 2017

Predicting the functional impact of KCNQ1 variants with artificial neural networks

artículo científico publicado en 2022

Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome

artículo científico publicado en 2007

Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age

scientific article published on 04 September 2020

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

artículo científico publicado en 2007

Propranolol blocks cardiac and neuronal voltage-gated sodium channels

artículo científico publicado en 2010

Protein structure aids predicting functional perturbation of missense variants in and

Ranolazine block of human Nav1.4 sodium channels and paramyotonia congenita mutants ⬇️

artículo científico publicado el 1 de marzo de 2011

Ranolazine reduces neuronal excitability by interacting with inactivated states of brain sodium channels

artículo científico publicado en 2013

Reply: Familial Hypercholesterolemia Causes Sudden Death

scientific article published on 01 December 2019

Response to Letter Regarding Articles, “Prevalence of Long QT Syndrome Gene Variants in Sudden Infant Death Syndrome,” “Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome,” and “Contribution of Long-QT Syndrome Genes to Sudd

artículo científico publicado en 2007

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation

artículo científico publicado en 2014

SCN1A variants associated with sudden infant death syndrome

artículo científico publicado en 2018

SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study.

artículo científico publicado en 2011

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy

artículo científico publicado en 2017

Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation

artículo científico publicado en 2013

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability

artículo científico publicado en 2017

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

artículo científico publicado en 2019

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

artículo científico publicado en 2014

Striatal Kir2 K+ channel inhibition mediates the antidyskinetic effects of amantadine

scientific article published on 20 April 2020

Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro

artículo científico publicado en 2011

Structural basis for KCNE3 modulation of potassium recycling in epithelia

artículo científico publicado en 2016

Structural models for the KCNQ1 voltage-gated potassium channel

artículo científico publicado en 2007

Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state

artículo científico publicado en 2020

Structure of KCNE1 and Implications for How It Modulates the KCNQ1 Potassium Channel † ‡

artículo científico publicado en 2008

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome

artículo científico publicado en 2020

The CaMKII inhibitor KN93-calmodulin interaction and implications for calmodulin tuning of NaV1.5 and RyR2 function

scientific article published on 30 July 2019

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

artículo científico publicado en 2008

The genetic basis of variability in drug responses

artículo científico publicado en 2002

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

artículo científico publicado en 2024

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome

artículo científico publicado en 2006

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome

artículo científico publicado en 2017

Upgraded molecular models of the human KCNQ1 potassium channel

artículo científico publicado en 2019

Use-Dependent Block of Human Cardiac Sodium Channels by GS967.

artículo científico publicado en 2016

Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome

artículo científico publicado en 2012

Lista de obras de

2355: Phenotype and genotype in surviving relatives after sudden death in the young

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1

Activation of protein kinase C alters the intracellular distribution and mobility of cardiac Na+channels ⬇️

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Antiepileptic activity of preferential inhibitors of persistent sodium current

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

Azithromycin Causes a Novel Proarrhythmic Syndrome

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

Calmodulin mutations associated with recurrent cardiac arrest in infants

Cardiac Evaluation of Children With a Family History of Sudden Death

Cardiac ion channels

Cardiac potassium channel dysfunction in sudden infant death syndrome

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

Cardiac sodium channel dysfunction in sudden infant death syndrome

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia

Congenital long QT syndrome aggravated by salt-wasting nephropathy

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

De novo KCNB1 mutations in epileptic encephalopathy

Decoding KCNH2 variants of unknown significance

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation

Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia

Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

Divergent sodium channel defects in familial hemiplegic migraine

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Engineered cocultures of iPSC-derived atrial cardiomyocytes and atrial fibroblasts for modeling atrial fibrillation

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome

Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks).

Extracellular sodium interacts with the HERG channel at an outer pore site

Factor V Leiden protects against blood loss and transfusion after cardiac surgery

Filtering approach based on empirical mode decomposition improves the assessment of short scale complexity in long QT syndrome type 1 population

Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy

Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy

Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels

Functional repair of a mutant chloride channel using a trans-splicing ribozyme

GS-967 and Eleclazine Block Sodium Channels in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

Genetic Mosaicism in Calmodulinopathy

Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives

Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

I Kr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines ⬇️

Identification and Characterization of a Compound That Protects Cardiac Tissue from Human Ether-à-go-go-related Gene (hERG)-related Drug-induced Arrhythmias ⬇️

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

Impact of genetics on the clinical management of channelopathies

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.

In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels

KCNE4 domains required for inhibition of KCNQ1.

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

KCNQ1/KCNE1 assembly, co-translation not required ⬇️

Long QT Syndrome Type 1 in an Australian Indigenous Patient

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death

Long QT syndrome-associated mutations in intrauterine fetal death

Low-Pass Filtering Approach via Empirical Mode Decomposition Improves Short-Scale Entropy-Based Complexity Estimation of QT Interval Variability in Long QT Syndrome Type 1 Patients

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel

Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling ⬇️

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.