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Article

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

PLoS genetics - 1 May 2012

Raveau Matthieu, Lignon Jacques M, Nalesso Valérie, Duchon Arnaud, Groner Yoram, Sharp Andrew J, Dembele Doulaye, Brault Véronique, Hérault Yann

Abstract excerpt

Down syndrome (DS) leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better...

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Identifiers

PMID: 22693452
DOI: 10.1371/journal.pgen.1002724
PMCID: PMC3364940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22693452-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.PMID 22693452Read ↗

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The impact of <i>Mmu</i> 17 non- <i>Hsa</i> 21 orthologous genes in the Ts65Dn mouse model of Down syndrome: the “gold standard” revisitedSemantic proximity Read ↗

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Cognitive and molecular characterization of the Ts66Yah murine model of Down syndrome: deepening on hippocampal changes associated with genotype and agingSemantic proximity Read ↗

Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.Semantic proximity Read ↗

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Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.Semantic proximity Read ↗

Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes.Semantic proximity Read ↗

The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome.Semantic proximity Read ↗

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