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

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

27 Sept 2010

Abstract excerpt

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders of genomic imprinting. AS results from loss of function of the ubiquitin protein ligase E3A (UBE3A) gene, whereas the genetic defect in PWS is unknown. Although induced pluripotent stem cells (iPSCs) provide invaluable models of human disease, nuclear reprogramming could limit the usefulness of iPSCs from patients who have AS...

Read the complete abstract on PubMed

Topics

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

Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20876107
DOI: 10.1073/pnas.1004487107

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromesPMID 20876107Read ↗

Induced Pluripotent Stem Cells Can Be Used to Model the Genomic Imprinting Disorder Prader-Willi SyndromeSemantic proximity Read ↗

Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletionSemantic proximity Read ↗

Angelman syndrome-derived neurons display late onset of paternal UBE3A silencingSemantic proximity Read ↗

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cellsSemantic proximity Read ↗

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cellsSemantic proximity Read ↗

Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domainsSemantic proximity Read ↗

Imprinting in Prader-Willi and Angelman syndromes.Semantic proximity Read ↗

Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.Semantic proximity Read ↗

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Semantic proximity Read ↗

Stem cell models of Angelman syndromeSemantic proximity Read ↗

Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editingSemantic proximity Read ↗

Temporal and developmental requirements for the Prader-Willi imprinting center.Semantic proximity Read ↗

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