Down syndrome and intellectual disability research

Single cell atlas of trisomy 21 cerebral cortex

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

Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome

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

Early alterations in cortical and cerebellar regional brain growth in Down Syndrome: An in-vivo fetal and neonatal MRI assessment

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

Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

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.

A non-mosaic humanized mouse model of Down syndrome, trisomy of the long arm of human chromosome 21 in mouse chromosome background

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.

Neurodevelopmental wiring deficits in the Ts65Dn mouse model of Down syndrome

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.

OLIG2 Drives Abnormal Neurodevelopmental Phenotypes in Human iPSC-Based Organoid and Chimeric Mouse Models of Down Syndrome

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

Whole genome bisulfite sequencing of Down syndrome brain reveals regional DNA hypermethylation and novel disease insights

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.

Single cell ATAC-seq identifies broad changes in neuronal abundance and chromatin accessibility in Down Syndrome

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.

Neuronal overexpression of DYRK1A/minibrain alters motor decline, neurodegeneration and synaptic plasticity in Drosophila

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.

Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a

Striking reduction in neurons and glial cells in anterior thalamic nuclei of older patients with Down’s syndrome

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.

Potassium channel regulators are differentially expressed in hippocampi of Ts65Dn and Tc1 Down syndrome mouse models

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

Deep feature selection for Identification of Essential Proteins of Learning and Memory in Mouse Model of Down Syndrome

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.

Survey of human chromosome 21 gene expression effects on early development in Danio rerio

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

Cerebral organoid proteomics reveals signatures of dysregulated cortical development associated with human trisomy 21

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

Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

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.

Transcriptome analysis of genetically matched human induced pluripotent stem cells disomic or trisomic for chromosome 21.

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.

Cognitive Changes associated with Alzheimer’s disease in Down syndrome

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.

Systematic Functional Characterization Of Human 21st Chromosome Orthologs In Caenorhabditis elegans

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.

Aberrant calcium signaling in astrocytes inhibits neuronal excitability in a human Down syndrome stem cell model

The hominoid-specific gene DSCR4 is involved in regulation of human leukocyte migration

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.