(Q34752070)

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Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue (English)

1 reference

Europe PubMed Central

4 August 2017

1 reference

based on heuristic

inferred from title

object named as

Jyoti Rao

9

0 references

object named as

Boris Greber

14

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object named as

Milena Bellin

15

0 references

Arie O. Verkerk

object named as

Arie O Verkerk

3

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Christine Mummery

object named as

Christine L Mummery

13

0 references

author name string

Miao Zhang

1

1 reference

Europe PubMed Central

4 August 2017

Cristina D'Aniello

2

1 reference

Europe PubMed Central

4 August 2017

Eva Wrobel

4

1 reference

Europe PubMed Central

4 August 2017

Stefan Frank

5

1 reference

Europe PubMed Central

4 August 2017

Dorien Ward-van Oostwaard

6

1 reference

Europe PubMed Central

4 August 2017

Ilaria Piccini

7

1 reference

Europe PubMed Central

4 August 2017

Christian Freund

8

1 reference

Europe PubMed Central

4 August 2017

Guiscard Seebohm

10

1 reference

Europe PubMed Central

4 August 2017

Douwe E Atsma

11

1 reference

Europe PubMed Central

4 August 2017

Eric Schulze-Bahr

12

1 reference

Europe PubMed Central

4 August 2017

language of work or name

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publication date

1 December 2014

1 reference

Europe PubMed Central

4 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

4 August 2017

111

1 reference

Europe PubMed Central

4 August 2017

50

1 reference

Europe PubMed Central

4 August 2017

E5383-92

1 reference

Europe PubMed Central

4 August 2017

iPS cells: a game changer for future medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Pluripotent stem cell models of human heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Screening drug-induced arrhythmia [corrected] using human induced pluripotent stem cell-derived cardiomyocytes and low-impedance microelectrode arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Modelling human channelopathies using induced pluripotent stem cells: a comprehensive review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Impact of genetics on the clinical management of channelopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Calmodulin mutations associated with recurrent cardiac arrest in infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Induced pluripotent stem cells: the new patient?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Current status of drug screening and disease modelling in human pluripotent stem cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Modulation of hERG potassium channel gating normalizes action potential duration prolonged by dysfunctional KCNQ1 potassium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Disease characterization using LQTS-specific induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Structural basis of slow activation gating in the cardiac I Ks channel complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A bioinformatic assay for pluripotency in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Development of defective and persistent Sendai virus vector: a unique gene delivery/expression system ideal for cell reprogramming

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Patient-specific induced pluripotent stem-cell models for long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Prediction of drug-induced cardiotoxicity using human embryonic stem cell-derived cardiomyocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Molecular aspects of the congenital and acquired Long QT Syndrome: clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Innovative approaches to anti-arrhythmic drug therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

The KCNQ1 potassium channel: from gene to physiological function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Activation of human ether-a-go-go-related gene potassium channels by the diphenylurea 1,3-bis-(2-hydroxy-5-trifluoromethyl-phenyl)-urea (NS1643).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Electrophysiological changes in heart failure and their relationship to arrhythmogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Jervell and Lange-Nielsen syndrome: a Norwegian perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A mechanism for the proarrhythmic effects of cisapride (Propulsid): high affinity blockade of the human cardiac potassium channel HERG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Long QT syndrome during high-dose cisapride

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4273331

7 July 2018

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

IKs in heart and hearing, the ear can do with less than the heart.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Molecular basis of the long-QT syndrome associated with deafness.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Mechanism of action of a novel human ether-a-go-go-related gene channel activator

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Increasing I(Ks) corrects abnormal repolarization in rabbit models of acquired LQT2 and ventricular hypertrophy

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1419553111

21 January 2018

Repolarization reserve determines drug responses in human pluripotent stem cell derived cardiomyocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/25453094

12 December 2020

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10.1073/PNAS.1419553111

1 reference

Europe PubMed Central

4 August 2017

2014PNAS..111E5383Z

0 references

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

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