Down syndrome and intellectual disability research

This study creates the first single cell atlas of T21 cerebral cortex, identifying dysregulated genes and developing a platform for data exploration.

The paper identifies distinct hippocampal and prefrontal cortex circuit dysfunctions in DS mouse models linked to specific regions of human chromosome 21.

This study uses in-vivo MRI to identify early structural brain growth deviations in fetuses and neonates with Down Syndrome compared to controls.

The paper identifies protein-protein interactions on Chr21 linked to intellectual disabilities, autism, and Alzheimer's by analyzing yeast two-hybrid screens and synaptic localization.

This paper describes a new non-mosaic humanized mouse model of Down syndrome with a nearly complete copy of the long arm of human chromosome 21.

This study examines interhemispheric connectivity in Ts65Dn mice, finding reduced hippocampal commissure volume at birth and impaired axon growth in vitro, suggesting early developmental defects may be targets for therapeutic intervention.

This study shows that OLIG2 overexpression in Down syndrome patient-derived iPSCs leads to abnormal neurodevelopmental phenotypes, including impaired recognition memory in chimeric mice.

The paper identifies 3,152 differentially methylated regions in DS brain tissue using WGBS, revealing hypermethylation in key biological pathways and cross-tissue concordance for hypermethylated regions.

The paper uses sci-ATAC-seq to analyze cortical cells in Ts65Dn mice, finding reduced excitatory neurons and increased interneurons, along with changes in chromatin accessibility related to transcription factors.

This study shows that overexpressing the Drosophila DYRK1A ortholog, minibrain, in neurons leads to motor decline, neurodegeneration, and synaptic changes similar to Down syndrome features.

The paper quantifies neuron and glial cell loss in anterior thalamic nuclei of older Down’s syndrome patients, finding a 70% neuron reduction and lesser glial loss, suggesting aging-related pathology in this region contributes to memory impairments.

The paper measures differential expression of potassium channel genes in Down syndrome mouse models and identifies correlations between channel genes.

The paper uses feature selection techniques to identify essential proteins for learning and memory in a mouse model of Down syndrome, finding higher accuracy with deep feature selection than traditional methods.

The paper screens Hsa21 gene overexpression in zebrafish to study dosage-sensitive effects on early development and identify potential contributors to Down syndrome pathology.

This study uses cerebral organoid proteomics to identify dysregulated networks in trisomy 21 and shows harmine partially normalizes key developmental regulators.

This study shows that neurofilament light (NF-L) levels in blood increase with age and predict dementia in adults with Down syndrome, suggesting its potential as a non-invasive biomarker for neurodegeneration.

This study analyzes transcriptome changes in trisomic and disomic human iPSCs for chromosome 21, identifying altered gene expression, alternative splicing, and repetitive element transcripts, and suggests trisomy may not limit neuronal differentiation.

This study uses an event-based model to analyze cognitive decline in adults with Down syndrome, showing similar patterns to Alzheimer's disease and identifying useful measures for tracking decline stages.

This study identifies ten HSA21 orthologs in C. elegans essential for neuromuscular behaviors, including three involved in acetylcholine release, providing insights into Down syndrome-related genes.

This study identifies DSCR4 as a hominoid-specific gene involved in regulating human leukocyte migration and immune system functions, supported by overexpression experiments and expression patterns in relevant cell types.