Human brain organogenesis: Toward a cellular understanding of development and disease

KW Kelley, SP Pașca - Cell, 2022 - cell.com
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …

Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications

Z Yan, B Rein - Molecular psychiatry, 2022 - nature.com
The prefrontal cortex (PFC) serves as the chief executive officer of the brain, controlling the
highest level cognitive and emotional processes. Its local circuits among glutamatergic …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex

KR Maynard, L Collado-Torres, LM Weber… - Nature …, 2021 - nature.com
We used the 10x Genomics Visium platform to define the spatial topography of gene
expression in the six-layered human dorsolateral prefrontal cortex. We identified extensive …

Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life

KA Walker, J Chen, L Shi, Y Yang, M Fornage… - Science translational …, 2023 - science.org
A diverse set of biological processes have been implicated in the pathophysiology of
Alzheimer's disease (AD) and related dementias. However, there is limited understanding of …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Transcriptomic organization of the human brain in post-traumatic stress disorder

MJ Girgenti, J Wang, D Ji, DA Cruz, MB Stein… - Nature …, 2021 - nature.com
Despite extensive study of the neurobiological correlates of post-traumatic stress disorder
(PTSD), little is known about its molecular determinants. Here, differential gene expression …

Analysis of the caudate nucleus transcriptome in individuals with schizophrenia highlights effects of antipsychotics and new risk genes

KJM Benjamin, Q Chen, AE Jaffe, JM Stolz… - Nature …, 2022 - nature.com
Most studies of gene expression in the brains of individuals with schizophrenia have
focused on cortical regions, but subcortical nuclei such as the striatum are prominently …