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 genesis of schizophrenia: an origin story

R Birnbaum, DR Weinberger - American Journal of Psychiatry, 2024 - Am Psychiatric Assoc
Schizophrenia is routinely referred to as a neurodevelopmental disorder, but the role of
brain development in a disorder typically diagnosed during early adult life is enigmatic. The …

Dopamine signaling enriched striatal gene set predicts striatal dopamine synthesis and physiological activity in vivo

L Sportelli, DP Eisenberg, R Passiatore… - Nature …, 2024 - nature.com
The polygenic architecture of schizophrenia implicates several molecular pathways involved
in synaptic function. However, it is unclear how polygenic risk funnels through these …

Changes in patterns of age-related network connectivity are associated with risk for schizophrenia

R Passiatore, LA Antonucci… - Proceedings of the …, 2023 - National Acad Sciences
Alterations in fMRI-based brain functional network connectivity (FNC) are associated with
schizophrenia (SCZ) and the genetic risk or subthreshold clinical symptoms preceding the …

Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide

R Nussinov, BR Yavuz, HC Demirel, MK Arici… - Frontiers in Cell and …, 2024 - frontiersin.org
The connection and causality between cancer and neurodevelopmental disorders have
been puzzling. How can the same cellular pathways, proteins, and mutations lead to …

Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT

F Geraci, R Passiatore, N Penzel, S Laudani… - Molecular …, 2024 - nature.com
Cognitive dysfunctions are core-enduring symptoms of schizophrenia, with important sex-
related differences. Genetic variants of the DTBPN1 gene associated with reduced …

Lymphoblast transcriptome analysis in 22q11. 2 deletion syndrome individuals with schizophrenia-spectrum disorder

E Michaelovsky, M Carmel, D Gothelf… - The World Journal of …, 2024 - Taylor & Francis
Abstract Objectives 22q11. 2 deletion is the most prominent risk factor for schizophrenia
(SZ). The aim of the present study was to identify unique transcriptome profile for 22q11. 2 …

Network-wide risk convergence in gene co-expression identifies reproducible genetic hubs of schizophrenia risk

C Borcuk, M Parihar, L Sportelli, JE Kleinman, JH Shin… - Neuron, 2024 - cell.com
The omnigenic model posits that genetic risk for traits with complex heritability involves
cumulative effects of peripheral genes on mechanistic" core genes," suggesting that in a …

Comparing stem cells, transdifferentiation and brain organoids as tools for psychiatric research

A Bellon - Translational psychiatry, 2024 - nature.com
The inaccessibility of neurons coming directly from patients has hindered our understanding
of mental illnesses at the cellular level. To overcome this obstacle, six different cellular …

[HTML][HTML] A miR-137–Related Biological Pathway of Risk for Schizophrenia Is Associated With Human Brain Emotion Processing

G Pergola, A Rampino, L Sportelli, CJ Borcuk… - Biological Psychiatry …, 2024 - Elsevier
Background miR-137 is a microRNA involved in brain development, regulating
neurogenesis and neuronal maturation. Genome-wide association studies have implicated …