{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T15:25:04Z","timestamp":1792250704061,"version":"4.4.0"},"reference-count":117,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Down syndrome is a well-studied aneuploidy condition in humans, which is associated with various disease phenotypes including cardiovascular, neurological, haematological and immunological disease processes. This review paper aims to discuss the research conducted on gene expression studies during fetal development. A descriptive review was conducted, encompassing all papers published on the PubMed database between September 1960 and September 2022. We found that in amniotic fluid, certain genes such as COL6A1 and DSCR1 were found to be affected, resulting in phenotypical craniofacial changes. Additionally, other genes such as GSTT1, CLIC6, ITGB2, C21orf67, C21orf86 and RUNX1 were also identified to be affected in the amniotic fluid. In the placenta, dysregulation of genes like MEST, SNF1LK and LOX was observed, which in turn affected nervous system development. In the brain, dysregulation of genes DYRK1A, DNMT3L, DNMT3B, TBX1, olig2 and AQP4 has been shown to contribute to intellectual disability. In the cardiac tissues, dysregulated expression of genes GART, ETS2 and ERG was found to cause abnormalities. Furthermore, dysregulation of XIST, RUNX1, SON, ERG and STAT1 was observed, contributing to myeloproliferative disorders. Understanding the differential expression of genes provides insights into the genetic consequences of DS. A better understanding of these processes could potentially pave the way for the development of genetic and pharmacological therapies.<\/jats:p>","DOI":"10.3390\/ijms25052968","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T05:31:12Z","timestamp":1709530272000},"page":"2968","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-9435","authenticated-orcid":false,"given":"Laura R.","family":"Chapman","sequence":"first","affiliation":[{"name":"Sheffield Children\u2019s NHS Foundation Trust, Clarkson St, Sheffield S10 2TH, UK"},{"name":"Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabela V. P.","family":"Ramnarine","sequence":"additional","affiliation":[{"name":"Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Zemke","sequence":"additional","affiliation":[{"name":"Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshad","family":"Majid","sequence":"additional","affiliation":[{"name":"Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK"},{"name":"Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2GJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2781-6478","authenticated-orcid":false,"given":"Simon M.","family":"Bell","sequence":"additional","affiliation":[{"name":"Sheffield Institute of Translational Neuroscience, University of Sheffield, Glossop Road, Sheffield S10 2GF, UK"},{"name":"Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2GJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"ref_1","first-page":"386","article-title":"International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age","volume":"36","author":"Carothers","year":"1999","journal-title":"J. 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