ArticleEuropean journal of human genetics : EJHG2019
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.American journal of human genetics · 2026Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.bioRxiv : the preprint server for biology · 2025Article
- Future Directions for Studying the Potential of Mammalian Dscam in Autism Spectrum Disorder and Alzheimer's Disease: Insights from Dose Sensitivity.Molecular neurobiology · 2025Review
- Reviewing the possible connection between cerebral amyloid angiopathy and blood-brain barrier integrity in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells.PNAS nexus · 2025Article
- Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review.Frontiers in genetics · 2025Article
- Review
- Safety of embryo cryopreservation: insights from mid-term placental transcriptional changes.Reproductive biology and endocrinology : RB&E · 2024Article
- Review
- Placental DNA methylation in pregnancies complicated by maternal diabetes and/or obesity: State of the art and research gaps.Epigenetics · 2022Review
- Approaching Sex Differences in Cardiovascular Non-Coding RNA Research.International journal of molecular sciences · 2020Review
- The Role of Epigenetics in Placental Development and the Etiology of Preeclampsia.International journal of molecular sciences · 2019Review
- Genetic and epigenetic sex-specific adaptations to endurance exercise.Epigenetics · 2019Review
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Authors and funding
10 authors.
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Abstract
We identified, through a genome-wide search for new imprinted genes in the human placenta, DSCAM (Down Syndrome Cellular Adhesion Molecule) as a paternally expressed imprinted gene. Our work revealed the presence of a Differentially Methylated Region (DMR), located within intron 1 that might regulate the imprinting in the region. This DMR showed a maternal allele methylation, compatible with its paternal expression. We showed that DSCAM is present in endothelial cells and the syncytiotrophoblast layer of the human placenta. In mouse, Dscam expression is biallelic in foetal brain and placenta excluding any possible imprinting in these tissues. This gene encodes a cellular adhesion molecule mainly known for its role in neurone development but its function in the placenta remains unclear. We report here the first imprinted gene located on human chromosome 21 with potential clinical implications.
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