NIPT discordance causes mapped in retrospective 97,743-pregnancy cohort
A 10-year retrospective study of 97,743 pregnancies found diverse causes for false-positive NIPT results, while three identified false negatives were ...
Tag: trisomy 21
Centromere Protein IFIT3 Emerges as a Driver of Mitochondrial Dysfunction in Down Syndrome
Researchers have identified the interferon-stimulated protein IFIT3 as a highly dysregulated centromere-proximal protein in fetal Down syndrome cells, showing that ...
First Multiomic Atlas Reveals How the Human Brain’s Protective Layers Build Their Immune Defenses
A paired single-nucleus RNA and chromatin atlas with spatial transcriptomics charts how the human meninges, their blood-brain barrier endothelium, yolk ...
Scientists map the developing human heart cell by cell and reveal how Down syndrome disrupts it
A multimodal atlas of the developing human heart reveals 21 tissue niches, shows fetal pacemaker cells recruiting their own nerve ...
Mitochondrial DNA Methylation Unchanged in Down Syndrome, Study Finds
The first study to examine mitochondrial D-loop methylation in Down syndrome finds no significant differences in methylation or mitochondrial DNA ...
Children With Down Syndrome Face 150-Fold Higher Leukemia Risk, and a Landmark Turkish Study Shows Why Getting the Diagnosis Right Saves Lives
A nationwide Turkish cohort study of 53 children with Down syndrome shows that those with Down syndrome-related myeloid leukemia achieved ...
Gut Microbe Link Revealed in Down Syndrome Obesity Risk
A new mouse study shows that gene overdosage in Down syndrome reshapes the gut microbiome's production of a protective metabolite, ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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