[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 …

Genomic findings in schizophrenia and their implications

MJ Owen, SE Legge, E Rees, JTR Walters… - Molecular …, 2023 - nature.com
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 …

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain

A Bhattacharya, DD Vo, C Jops, M Kim, C Wen… - Nature Genetics, 2023 - nature.com
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 …

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 …

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 …

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 …

[HTML][HTML] High number of mitochondrial DNA alterations in postmortem brain tissue of patients with schizophrenia compared to healthy controls

BK Bulduk, J Tortajada, A Valiente-Pallejà… - Psychiatry …, 2024 - Elsevier
Previous studies have shown mitochondrial dysfunction in schizophrenia (SZ) patients,
which may be caused by mitochondrial DNA (mtDNA) alterations. However, there are few …

[HTML][HTML] Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and …

C Tordai, E Hathy, H Gyergyák, K Vincze… - Schizophrenia …, 2024 - Elsevier
Background Schizophrenia (SCZ) is a severe neuropsychiatric disorder of complex, poorly
understood etiology, associated with both genetic and environmental factors. De novo …

Altered Expression of PDE4 Genes in Schizophrenia: Insights from a Brain and Blood Sample Meta-Analysis and iPSC-Derived Neurons

N Burrack, A Yitzhaky, L Mizrahi, M Wang, S Stern… - Genes, 2024 - mdpi.com
Schizophrenia symptomatology includes negative symptoms and cognitive impairment.
Several studies have linked schizophrenia with the PDE4 family of enzymes due to their …

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in …

A Kanwal, SA Sheikh, F Aslam, S Yaseen, Z Beetham… - Genes, 2023 - mdpi.com
Psychosis is a severe mental disorder characterized by abnormal thoughts and perceptions
(eg, hallucinations) occurring quintessentially in schizophrenia and in several other …