The multiplex model of the genetics of Alzheimer's disease
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
[HTML][HTML] A human brain vascular atlas reveals diverse mediators of Alzheimer's risk
The human brain vasculature is of great medical importance: its dysfunction causes
disability and death, and the specialized structure it forms—the blood–brain barrier …
disability and death, and the specialized structure it forms—the blood–brain barrier …
[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
Massively parallel techniques for cataloguing the regulome of the human brain
Complex brain disorders are highly heritable and arise from a complex polygenic risk
architecture. Many disease-associated loci are found in non-coding regions that house …
architecture. Many disease-associated loci are found in non-coding regions that house …
Long-term maturation of human cortical organoids matches key early postnatal transitions
Human stem-cell-derived models provide the promise of accelerating our understanding of
brain disorders, but not knowing whether they possess the ability to mature beyond mid-to …
brain disorders, but not knowing whether they possess the ability to mature beyond mid-to …
A single-cell atlas of entorhinal cortex from individuals with Alzheimer's disease reveals cell-type-specific gene expression regulation
There is currently little information available about how individual cell types contribute to
Alzheimer's disease. Here we applied single-nucleus RNA sequencing to entorhinal cortex …
Alzheimer's disease. Here we applied single-nucleus RNA sequencing to entorhinal cortex …
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
[PDF][PDF] Molecular architecture of the mouse nervous system
A Zeisel, H Hochgerner, P Lönnerberg, A Johnsson… - Cell, 2018 - cell.com
The mammalian nervous system executes complex behaviors controlled by specialized,
precisely positioned, and interacting cell types. Here, we used RNA sequencing of half a …
precisely positioned, and interacting cell types. Here, we used RNA sequencing of half a …
[PDF][PDF] Single-nucleus RNA-Seq is not suitable for detection of microglial activation genes in humans
Single-nucleus RNA sequencing (snRNA-seq) is used as an alternative to single-cell RNA-
seq, as it allows transcriptomic profiling of frozen tissue. However, it is unclear whether …
seq, as it allows transcriptomic profiling of frozen tissue. However, it is unclear whether …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …