[HTML][HTML] Molecular mechanisms of schizophrenia: Insights from human genetics

Z Farsi, M Sheng - Current Opinion in Neurobiology, 2023 - Elsevier
Schizophrenia is a debilitating psychiatric disorder that affects millions of people worldwide;
however, its etiology is poorly understood at the molecular and neurobiological levels. A …

Diagnosis and management of bipolar disorders

FS Goes - bmj, 2023 - bmj.com
Bipolar disorders (BDs) are recurrent and sometimes chronic disorders of mood that affect
around 2% of the world's population and encompass a spectrum between severe elevated …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

Platelet factors are induced by longevity factor klotho and enhance cognition in young and aging mice

C Park, O Hahn, S Gupta, AJ Moreno, F Marino, B Kedir… - Nature Aging, 2023 - nature.com
Platelet factors regulate wound healing and can signal from the blood to the brain,.
However, whether platelet factors modulate cognition, a highly valued and central …

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

D Liu, D Meyer, B Fennessy, C Feng, E Cheng… - Nature …, 2023 - nature.com
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar …

M Nishioka, J Takayama, N Sakai, A Kazuno… - Molecular …, 2023 - nature.com
Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with
manic and depressive episodes. Despite various genetic studies, the genetic architecture …

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

I Agarwal, ZL Fuller, SR Myers, M Przeworski - Elife, 2023 - elifesciences.org
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are
enriched in'mutation intolerant'genes. We show how such observations can be interpreted in …

[PDF][PDF] Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders

G Pintacuda, YHH Hsu, K Tsafou, KW Li, JM Martín… - Cell Genomics, 2023 - cell.com
Autism spectrum disorders (ASDs) have been linked to genes with enriched expression in
the brain, but it is unclear how these genes converge into cell-type-specific networks. We …

[PDF][PDF] Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice

Z Farsi, A Nicolella, SK Simmons, S Aryal, N Shepard… - Neuron, 2023 - cell.com
A genetically valid animal model could transform our understanding of schizophrenia (SCZ)
disease mechanisms. Rare heterozygous loss-of-function (LoF) mutations in GRIN2A …