ArticleMammalian genome : official journal of the International Mammalian Genome Society1997
A candidate model for Angelman syndrome in the mouse.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 93 citations in OpenAlex.
- A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15.Human cell · 2025Article
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A high-fidelity RNA-targeting Cas13 restores paternal Ube3a expression and improves motor functions in Angelman syndrome mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Stem cell models of Angelman syndrome.Frontiers in cell and developmental biology · 2023Review
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- A mouse model of Angelman syndrome imprinting defects.Human molecular genetics · 2019Article
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Human genetics · 2015Article
- Article
- The role of genomic imprinting in biology and disease: an expanding view.Nature reviews. Genetics · 2014Review
- Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.PLoS genetics · 2013Article
- Mouse models of aneuploidy.TheScientificWorldJournal · 2012Review
- An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.PloS one · 2012Article
- Understanding the pathogenesis of Angelman syndrome through animal models.Neural plasticity · 2012Review
- Chromosome-wide analysis of parental allele-specific chromatin and DNA methylation.Molecular and cellular biology · 2011Article
- MIRA-SNuPE, a quantitative, multiplex method for measuring allele-specific DNA methylation.Epigenetics · 2011Article
- Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.Neurobiology of disease · 2010Article
- A Drosophila model for Angelman syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation.PLoS genetics · 2007Article
- A targeted deletion upstream of Snrpn does not result in an imprinting defect.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are well-recognized examples of imprinting in humans. They occur most commonly with paternal and maternal 15q11-13 deletions, but also with maternal and paternal disomy. Both syndromes have also occurred more rarely in association with smaller deletions seemingly causing abnormal imprinting. A putative mouse model of PWS, occurring with maternal duplication (partial maternal disomy) for the homologous region, has been described in a previous paper but, although a second imprinting effect that could have provided a mouse model of AS was found, it appeared to be associated with a slightly different region of the chromosome. Here, we provide evidence that the same region is in fact involved and further demonstrate that animals with paternal duplication for the region exhibit characteristics of AS patients. A mouse model of AS is, therefore, strongly indicated.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.