The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model (Q34302163)

1 August 2017

title

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model (English)

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1 August 2017

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Arnaud Duchon

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Yann Hérault

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Matthieu Raveau

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1 August 2017

Jacques M Lignon

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1 August 2017

Valérie Nalesso

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1 August 2017

Yoram Groner

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1 August 2017

Andrew J Sharp

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1 August 2017

Doulaye Dembele

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1 August 2017

Véronique Brault

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1 August 2017

publication date

31 May 2012

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

e1002724

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Creative Commons Attribution 4.0 International

1 August 2017

start time

31 May 2012

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April 2022 Public Data File from Crossref

copyrighted

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cites work

The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Down syndrome: searching for the genetic culprits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

A 50% reduction of excitability but not of intercellular coupling affects conduction velocity restitution and activation delay in the mouse heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Genetic analysis of Down syndrome-associated heart defects in mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

The changing epidemiology of congenital heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

PAC1 gene knockout reveals an essential role of chaperone-mediated 20S proteasome biogenesis and latent 20S proteasomes in cellular homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Genetic variation in SCN10A influences cardiac conduction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Electrophysiologic and anatomical relationships studied in primum atrioventricular septal defect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

The utility of fragmented QRS complexes to predict significant intraventricular dyssynchrony in nonischemic dilated cardiomyopathy patients with a narrow QRS interval

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Cardiac connexins and impulse propagation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Mouse models of SCN5A-related cardiac arrhythmias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

The pediatric electrocardiogram part III: Congenital heart disease and other cardiac syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Clinical use of electrocardiography in adults with congenital heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

The power of comparative and developmental studies for mouse models of Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Developmentally regulated promoter-switch transcriptionally controls Runx1 function during embryonic hematopoiesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Signal transduction in early heart development (II): ventricular chamber specification, trabeculation, and heart valve formation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Atrioventricular septal defect: from fetus to adult

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Making or breaking the heart: from lineage determination to morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Tiam1 takes PARt in cell polarity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Modulatory calcineurin-interacting proteins 1 and 2 function as calcineurin facilitators in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Molecular physiology of cardiac repolarization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Chromosome 21 and down syndrome: from genomics to pathophysiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Heart valve development: endothelial cell signaling and differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Frequency of anesthesia-related complications in children with Down syndrome under general anesthesia for noncardiac procedures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Mutagenic insertion and chromosome engineering resource (MICER).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Basic Mechanisms of Cardiac Impulse Propagation and Associated Arrhythmias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Essential role for ADAM19 in cardiovascular morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Cyclin E ablation in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Exploration, normalization, and summaries of high density oligonucleotide array probe level data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Channel openings are necessary but not sufficient for use-dependent block of cardiac Na(+) channels by flecainide: evidence from the analysis of disease-linked mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Targeted disruption of Na+/Ca2+ exchanger gene leads to cardiomyocyte apoptosis and defects in heartbeat

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Role of the carboxy-terminal region of the GluR epsilon2 subunit in synaptic localization of the NMDA receptor channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Architectural and functional asymmetry of the His-Purkinje system of the murine heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Maternally expressed PGK-Cre transgene as a tool for early and uniform activation of the Cre site-specific recombinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002724

Frizzled-3 is required for the development of major fiber tracts in the rostral CNS.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364940

In vivo temporal and spatial distribution of depolarization and repolarization and the illusive murine T wave

28 October 2018

1 reference

12 December 2020

High-resolution optical mapping of the right bundle branch in connexin40 knockout mice reveals slow conduction in the specialized conduction system

1 reference

12 December 2020

The Na+ -Ca2+ exchanger is essential for embryonic heart development in mice

1 reference

12 December 2020

A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome

1 reference

12 December 2020

"Crochetage" (notch) on R wave in inferior limb leads: a new independent electrocardiographic sign of atrial septal defect

1 reference

12 December 2020

Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down's syndrome

1 reference

12 December 2020

Engineering chromosomes in mice through targeted meiotic recombination (TAMERE)

1 reference

12 December 2020

Development of the cardiac conduction system in atrioventricular septal defect in human trisomy 21

1 reference

12 December 2020

Altered autonomic cardiac regulation in individuals with Down syndrome

1 reference

12 December 2020

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

1 reference

12 December 2020

Fragmented QRS on twelve-lead electrocardiogram predicts arrhythmic events in patients with ischemic and nonischemic cardiomyopathy

1 reference

12 December 2020

Congenital heart defects are under-recognised in adult patients with Down's syndrome

1 reference

12 December 2020

Attenuated responses to sympathoexcitation in individuals with Down syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002724

Identifiers

DOI

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1 August 2017

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1 August 2017

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