ArticleDevelopment (Cambridge, England)2023
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.
Article in Development (Cambridge, England), 2023. 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, 24 citations in OpenAlex.
- Duplication-based genetic dissection of the Down syndrome critical region reveals its complex functional organization.G3 (Bethesda, Md.) · 2026Article
- A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.STAR protocols · 2026Review
- Transcriptome analyses reveal the fertility defect in the Dp(16)1Yey/+ mouse model of Down syndrome.Journal of assisted reproduction and genetics · 2026Article
- Wormian bones: expanded differential diagnosis and implications for abnormal head shape in infancy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.PLoS genetics · 2025Article
- The role of Goldilocks protein kinase DYRK1A in embryonic development.Developmental biology · 2025Review
- Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review.Epidemiologia (Basel, Switzerland) · 2025Review
- Review
- Dyrk1a is required for craniofacial development in Xenopus laevis.Developmental biology · 2024Article
- Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- Adaptive introgression reveals the genetic basis of a sexually selected syndrome in wall lizards.Science advances · 2024Article
- Skeletal health inFrontiers in neuroscience · 2024Review
- Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.Life science alliance · 2023Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), occurs in 1 in 800 live births and is the most common human aneuploidy. DS results in multiple phenotypes, including craniofacial dysmorphology, which is characterised by midfacial hypoplasia, brachycephaly and micrognathia. The genetic and developmental causes of this are poorly understood. Using morphometric analysis of the Dp1Tyb mouse model of DS and an associated mouse genetic mapping panel, we demonstrate that four Hsa21-orthologous regions of mouse chromosome 16 contain dosage-sensitive genes that cause the DS craniofacial phenotype, and identify one of these causative genes as Dyrk1a. We show that the earliest and most severe defects in Dp1Tyb skulls are in bones of neural crest (NC) origin, and that mineralisation of the Dp1Tyb skull base synchondroses is aberrant. Furthermore, we show that increased dosage of Dyrk1a results in decreased NC cell proliferation and a decrease in size and cellularity of the NC-derived frontal bone primordia. Thus, DS craniofacial dysmorphology is caused by an increased dosage of Dyrk1a and at least three other genes.
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