Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.

Stem cells translational medicine - 1 Mar 2013

Briggs James A, Mason Elizabeth A, Ovchinnikov Dmitry A, Wells Christine A, Wolvetang Ernst J

Abstract excerpt

Down syndrome (DS) is a complex developmental disorder with diverse pathologies that affect multiple tissues and organ systems. Clear mechanistic description of how trisomy of chromosome 21 gives rise to most DS pathologies is currently lacking and is limited to a few examples of dosage-sensitive trisomic genes with large phenotypic effects. The recent advent of cellular reprogramming technology offers a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular Reprogramming
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Down Syndrome

Share to Gene Expression Regulation, Developmental

Share to Gene Regulatory Networks

Share to Genomics

Share to Induced Pluripotent Stem Cells

Share to Mice, Transgenic

Source

Open in PubMed Open full text

Identifiers

PMID: 23413375
DOI: 10.5966/sctm.2012-0117
PMCID: PMC3659762

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.PMID 23413375Read ↗

Induced pluripotent stem cells as a cellular model for studying Down SyndromeSemantic proximity Read ↗

Integration-free induced pluripotent stem cells model genetic and neural developmental features of down syndrome etiology.Semantic proximity Read ↗

Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndromeSemantic proximity Read ↗

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Semantic proximity Read ↗

Trisomy 21 and Down syndrome: a short review.Semantic proximity Read ↗

Epigenomic engineering for Down syndrome.Semantic proximity Read ↗

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and NeurodegenerationSemantic proximity Read ↗

Transcriptional consequences of trisomy 21 on neural inductionSemantic proximity Read ↗

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular FunctionsSemantic proximity Read ↗

Down syndrome genetics: unravelling a multifactorial disorder.Semantic proximity Read ↗

Down syndrome phenotypes: the consequences of chromosomal imbalance.Semantic proximity Read ↗

Single-cell atlas of the fetal Down syndrome cortex uncovers chromosome 21 regulators of intellectual disability gene networksSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.