Alzheimer’s disease is characterized by accumulation of amyloid and neurofibrillary tangles, and this pathology can be detected using neuroimaging or fluid biomarkers prior to the development of dementia. The Alzheimer’s disease process also involves neurodegeneration which eventually leads to cognitive decline and dementia, however typical approaches for measuring neurodegeneration (such as T1-weighted imaging), may not be sensitive to neurodegeneration in the asymptomatic disease stage.
Down syndrome (DS, trisomy 21) is characterized by intellectual impairment at birth and Alzheimer’s disease (AD) pathology in middle age. As individuals with DS age, their cognitive functions decline as they develop AD pathology.
The spinal cord contains billions of neurons, with a huge diversity of subtypes enabling sensory, proprioceptive, and motor function. However, current human stem cell-based in vitro models and prospective cell transplantation therapies fail to reflect the significant regional specificity of spinal cells.
Voluntary running enhances adult hippocampal neurogenesis, with consequences for hippocampal-dependent learning ability and mood regulation. However, the underlying mechanism remains unclear. Here, we show that voluntary running induces unique and dynamic gene expression changes specifically within the adult-born hippocampal neurons, with significant impact on genes involved in neuronal maturation and human diseases. We identify the regulator of G protein signaling 6 (RGS6) as a key factor that mediates running impact on adult-born neurons.
Autism spectrum disorder (ASD) is consistently diagnosed 3 to 5 times more frequently in males than females, a dramatically sex-biased prevalence that suggests the involvement of sex-differential biological factors in modulating risk. The genomic scale of transcriptomic analyses of human brain tissue can provide an unbiased approach for identifying genes and associated functional processes at the intersection of sex-differential and ASD-impacted neurobiology.
Understanding cell-type-specific gene regulatory mechanisms from genetic variants to diseases remains challenging. To address this, we developed a computational pipeline, scGRNom (single-cell Gene Regulatory Network prediction from multi-omics), to predict cell-type disease genes and regulatory networks including transcription factors and regulatory elements.
Title: Auditory-Perceptual Features of Speech in Children and Adults with Down syndrome: A Speech Profile Analysis Legend: Table 6 – Principal component loading matrix, first four principal components, vowel features. Note. The largest loadings (in …
Title: Associations among daily living skills, motor, and sensory difficulties in children with and without autism Legend: The goal of this study was to determine how motor skills relate to daily living skills in children 6-10 …
Title: CRISPR-Cas9 deletion of PMP22 super enhancer creates a new model of hereditary neuropathy with liability to pressure palsies (HNPP) Legend: (A) Morphometric analysis demonstrates axonal loss i thin section were taken from 3- to 5-month-old …
Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9–18 years) with idiopathic ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use.