Evidence map›Paper›PMID 32306996›Full record

ArticleGenome medicine2020

Transcriptome analysis and functional characterization of cerebral organoids in bipolar disorder.

Annie Kathuria, Kara Lopez-Lengowski, Magdalena Vater, Donna McPhie, Bruce M Cohen, Rakesh Karmacharya

Open access · goldAbstract read
In one paragraph

Article in Genome medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 2 pooled it
11.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 104 citations in OpenAlex.

  1. Pooled it
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  10. Multi-Region Brain Organoids Integrating Cerebral, Mid-Hindbrain, and Endothelial Systems.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
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  13. Modelling human brain development and disease with organoids.Nature reviews. Molecular cell biology · 2025
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1 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Annie KathuriaCenter for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Kara Lopez-LengowskiCenter for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Magdalena VaterCenter for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Donna McPhieDepartment of Psychiatry, Harvard Medical School, Boston, MA, USA.
Bruce M CohenDepartment of Psychiatry, Harvard Medical School, Boston, MA, USA.
Rakesh KarmacharyaCenter for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. karmacharya@mgh.harvard.edu.
Broad Institute · USHarvard University · USMassachusetts General Hospital · US

Funding

Ex vivo signature of psychosis and treatment response in patient-derived neuronsR01MH113858 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI KARMACHARYA, RAKESH · 2017 to 2021
$2.7M
Wnt/GSK3/beta Catenin Signaling as a Target for Treatment of Bipolar DisorderK08MH086846 · NIMH · MCLEAN HOSPITAL · PI KARMACHARYA, RAKESH · 2010 to 2014
$901k
NIMH NIH HHS K08 MH086846NIMH NIH HHS R01 MH113858
6 · The paper itself

Abstract

backgroundReprogramming human induced pluripotent stem cells (iPSCs) from somatic cells and generating three-dimensional brain organoids from these iPSCs provide access to live human neuronal tissue with disease-specific genetic backgrounds.

methodsCerebral organoids were generated from iPSCs of eight bipolar disorder (BPI) patients and eight healthy control individuals. RNA-seq experiments were undertaken using RNA isolated from the cerebral organoids. Functional activity in the cerebral organoids was studied using microelectrode arrays.

resultsRNA-seq data comparing gene expression profiles in the cerebral organoids showed downregulation of pathways involved in cell adhesion, neurodevelopment, and synaptic biology in bipolar disorder along with upregulation of genes involved in immune signaling. The central hub in the network analysis was neurocan (NCAN), which is located in a locus with evidence for genome-wide significant association in BPI. Gene ontology analyses suggested deficits related to endoplasmic reticulum biology in BPI, which was supported by cellular characterization of ER-mitochondria interactions. Functional studies with microelectrode arrays revealed specific deficits in response to stimulation and depolarization in BPI cerebral organoids.

conclusionsOur studies in cerebral organoids from bipolar disorder showed dysregulation in genes involved in cell adhesion, immune signaling, and endoplasmic reticulum biology; implicated a central role for the GWAS hit NCAN in the biology of BPI; and showed evidence of deficits in neurotransmission.

Indexed as

TranscriptomeAdultBipolar DisorderCell AdhesionCells, CulturedChondroitin Sulfate ProteoglycansFemaleHumansInduced Pluripotent Stem CellsLectins, C-TypeMaleMembrane PotentialsMiddle AgedNerve Tissue ProteinsNeural Stem CellsNeurocanChondroitin Sulfate ProteoglycansLectins, C-TypeNCAN protein, humanNerve Tissue ProteinsNeurocanBipolar disorderCell adhesionEndoplasmic reticulumImmune signalingiPSCMAMNCANOrganoid

Identifiers

PMID32306996
PMCPMC7168850
OpenAlexW3016752707

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.