The schizophrenia syndrome, circa 2024: What we know and how that informs its nature
R Tandon, H Nasrallah, S Akbarian… - Schizophrenia …, 2024 - Elsevier
With new data about different aspects of schizophrenia being continually generated, it
becomes necessary to periodically revisit exactly what we know. Along with a need to review …
becomes necessary to periodically revisit exactly what we know. Along with a need to review …
Genomic findings in schizophrenia and their implications
There has been substantial progress in understanding the genetics of schizophrenia over
the past 15 years. This has revealed a highly polygenic condition with the majority of the …
the past 15 years. This has revealed a highly polygenic condition with the majority of the …
[HTML][HTML] Molecular mechanisms of schizophrenia: Insights from human genetics
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 …
however, its etiology is poorly understood at the molecular and neurobiological levels. A …
Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …
Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities
R Birnbaum - Translational Psychiatry, 2023 - nature.com
Tandem repeats (TRs) are prevalent throughout the genome, constituting at least 3% of the
genome, and often highly polymorphic. The high mutation rate of TRs, which can be orders …
genome, and often highly polymorphic. The high mutation rate of TRs, which can be orders …
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Germline mutations modulate the risk of developing schizophrenia (SCZ). Much less is
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …
A burden of rare copy number variants in obsessive-compulsive disorder
MW Halvorsen, E de Schipper, J Bäckman… - Molecular …, 2024 - nature.com
Current genetic research on obsessive-compulsive disorder (OCD) supports contributions to
risk specifically from common single nucleotide variants (SNVs), along with rare coding …
risk specifically from common single nucleotide variants (SNVs), along with rare coding …
[HTML][HTML] SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases
MA Colijn, P Carrion, G Poirier-Morency… - Progress in Neuro …, 2024 - Elsevier
Objective SETD1A encodes a histone methyltransferase involved in various cell cycle
regulatory processes. Loss-of-function SETD1A variants have been associated with …
regulatory processes. Loss-of-function SETD1A variants have been associated with …
Large-scale neurophysiology and single-cell profiling in human neuroscience
Advances in large-scale single-unit human neurophysiology, single-cell RNA sequencing,
spatial transcriptomics and long-term ex vivo tissue culture of surgically resected human …
spatial transcriptomics and long-term ex vivo tissue culture of surgically resected human …
Rare coding variants in schizophrenia-associated genes affect generalised cognition in the UK Biobank
Impairments in cognitive function are a feature of schizophrenia that strongly predict
functional outcome and are generally not improved by current medications. However, the …
functional outcome and are generally not improved by current medications. However, the …