The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020 - nature.com
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 …

Schizophrenia—an overview

RA McCutcheon, TR Marques, OD Howes - JAMA psychiatry, 2020 - jamanetwork.com
Importance Schizophrenia is a common, severe mental illness that most clinicians will
encounter regularly during their practice. This report provides an overview of the clinical …

[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

[HTML][HTML] Single-cell genomic profiling of human dopamine neurons identifies a population that selectively degenerates in Parkinson's disease

T Kamath, A Abdulraouf, SJ Burris, J Langlieb… - Nature …, 2022 - nature.com
The loss of dopamine (DA) neurons within the substantia nigra pars compacta (SNpc) is a
defining pathological hallmark of Parkinson's disease (PD). Nevertheless, the molecular …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

[PDF][PDF] Generation of functional human 3D cortico-motor assembloids

J Andersen, O Revah, Y Miura, N Thom, ND Amin… - Cell, 2020 - cell.com
Neurons in the cerebral cortex connect through descending pathways to hindbrain and
spinal cord to activate muscle and generate movement. Although components of this …