Reversal of proliferation deficits caused by chromosome 16p13. 11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal …

M Johnstone, NA Vasistha, MC Barbu, O Dando… - Molecular …, 2019 - nature.com
The molecular basis of how chromosome 16p13. 11 microduplication leads to major
psychiatric disorders is unknown. Here we have undertaken brain imaging of patients …

Can we detect psychotic-like experiences in the general population?

B Nelson, P Fusar-Poli, AR Yung - Current pharmaceutical …, 2012 - ingentaconnect.com
The continuum model of psychosis posits that psychotic symptoms are distributed
throughout the population, with diagnosable clinical disorder existing at a certain point along …

Global increases in both common and rare copy number load associated with autism

S Girirajan, RL Johnson, F Tassone… - Human molecular …, 2013 - academic.oup.com
Children with autism have an elevated frequency of large, rare copy number variants
(CNVs). However, the global load of deletions or duplications, per se, and their size, location …

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

LR Stewart, AL Hall, SHL Kang, CA Shaw… - BMC medical …, 2011 - Springer
Background Many copy number variants (CNVs) are documented to be associated with
neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia …

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

G Costain, AS Bassett - The application of clinical genetics, 2012 - Taylor & Francis
Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic
heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic …

Copy number variants in Alzheimer's disease

D Cuccaro, EV De Marco, R Cittadella… - Journal of Alzheimer's …, 2017 - content.iospress.com
Alzheimer's disease (AD) is a devastating disease mainly afflicting elderly people,
characterized by decreased cognition, loss of memory, and eventually death. Although risk …

[HTML][HTML] MicroRNA dysregulation, gene networks, and risk for schizophrenia in 22q11. 2 deletion syndrome

D Merico, G Costain, NJ Butcher, W Warnica… - Frontiers in …, 2014 - frontiersin.org
The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized.
Microdeletions at chromosome 22q11. 2 are recurrent structural variants that impart a high …

Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients

JE Buizer-Voskamp, JW Muntjewerff, G Risk… - Biological …, 2011 - Elsevier
BACKGROUND: Since 2008, multiple studies have reported on copy number variations
(CNVs) in schizophrenia. However, many regions are unique events with minimal overlap …

Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia …

E Hathy, E Szabó, N Varga, Z Erdei, C Tordai… - Stem Cell Research & …, 2020 - Springer
Abstract Background De novo mutations (DNMs) have been implicated in the etiology of
schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by …

Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene

AP Mullin, A Gokhale, J Larimore, V Faundez - Molecular neurobiology, 2011 - Springer
There is growing interest in the biology of dysbindin and its genetic locus (DTNBP1) due to
genetic variants associated with an increased risk of schizophrenia. Reduced levels of …