ArticleNPJ schizophrenia2016
Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function.
Article in NPJ schizophrenia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The impact of Disrupted-in-Schizophrenia 1 (DISC1) on the dopaminergic system: a systematic review.Translational psychiatry · 2017Pooled it
- Mapping Genetic Associations With Functional Brain Area Alterations in Schizophrenia and Implications for Cortical Development.Brain and behavior · 2025Article
- Aberrant glutamatergic systems underlying impulsive behaviors: Insights from clinical and preclinical research.Progress in neuro-psychopharmacology & biological psychiatry · 2024Review
- Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.BMC psychiatry · 2022Article
- Dopamine System, NMDA Receptor and EGF Family Expressions in Brain Structures of Bl6 and 129Sv Strains Displaying Different Behavioral Adaptation.Brain sciences · 2021Article
- Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness.Translational psychiatry · 2021Article
- Are working memory and glutamate concentrations involved in early-life stress and severity of psychosis?Brain and behavior · 2020Article
- Associating Psychotic Symptoms with Altered Brain Anatomy in Psychotic Disorders Using Multidimensional Item Response Theory Models.Cerebral cortex (New York, N.Y. : 1991) · 2020Article
- Estradiol reverses excitatory synapse loss in a cellular model of neuropsychiatric disorders.Translational psychiatry · 2020Article
- Article
- Disrupted-in-schizophrenia 1 functional polymorphisms and DGenes, brain, and behavior · 2019Article
- Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction.Molecular psychiatry · 2019Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Sex-specific deficits in neurite density and white matter integrity are associated with targeted disruption of exon 2 of the Disc1 gene in the rat.Translational psychiatry · 2019Article
- DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.Molecular psychiatry · 2018Article
- DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.Translational psychiatry · 2018Article
- Mechanisms underlying the role of DISC1 in synaptic plasticity.The Journal of physiology · 2018Review
- Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.Molecular psychiatry · 2018Article
- Altered DNA methylation associated with a translocation linked to major mental illness.NPJ schizophrenia · 2018Article
- Repeated Administration of D-Amphetamine Induces Distinct Alterations in Behavior and Metabolite Levels in 129Sv and Bl6 Mouse Strains.Frontiers in neuroscience · 2018Article
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 2 countries.
Funding
Abstract
Rare genetic variants of large effect can help elucidate the pathophysiology of brain disorders. Here we expand the clinical and genetic analyses of a family with a (1;11)(q42;q14.3) translocation multiply affected by major psychiatric illness and test the effect of the translocation on the structure and function of prefrontal, and temporal brain regions. The translocation showed significant linkage (LOD score 6.1) with a clinical phenotype that included schizophrenia, schizoaffective disorder, bipolar disorder, and recurrent major depressive disorder. Translocation carriers showed reduced cortical thickness in the left temporal lobe, which correlated with general psychopathology and positive psychotic symptom severity. They showed reduced gyrification in prefrontal cortex, which correlated with general psychopathology severity. Translocation carriers also showed significantly increased activation in the caudate nucleus on increasing verbal working memory load, as well as statistically significant reductions in the right dorsolateral prefrontal cortex glutamate concentrations. These findings confirm that the t(1;11) translocation is associated with a significantly increased risk of major psychiatric disorder and suggest a general vulnerability to psychopathology through altered cortical structure and function, and decreased glutamate levels.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.