Evidence map›Paper›PMID 26194112›Full record

ArticleHuman genetics2015

Investigation of genes important in neurodevelopment disorders in adult human brain.

Gilles Maussion, Alpha B Diallo, Carolina O Gigek, Elizabeth S Chen, Liam Crapper, Jean-Francois Théroux, Gary G Chen, Cristina Vasuta, Carl Ernst

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

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  13. A Dual Noradrenergic Mechanism for the Relief of Neuropathic Allodynia by the Antidepressant Drugs Duloxetine and Amitriptyline.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018
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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

9 authors at 3 institutions in 2 countries.

Gilles MaussionDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Alpha B DialloDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Carolina O GigekMcGill Group for Suicide Studies, Douglas Hospital, Montreal, QC, H4H 1R3, Canada.
Elizabeth S ChenMcGill Group for Suicide Studies, Douglas Hospital, Montreal, QC, H4H 1R3, Canada.
Liam CrapperDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Jean-Francois ThérouxDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Gary G ChenDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Cristina VasutaDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada.
Carl ErnstDepartment of Psychiatry, McGill University, Montreal, QC, H4H 1R3, Canada. carl.ernst@mcgill.ca.
McGill University · CADouglas Mental Health University Institute · CAUniversidade Federal de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Several neurodevelopmental disorders (NDDs) are caused by mutations in genes expressed in fetal brain, but little is known about these same genes in adult human brain. Here, we test the hypothesis that genes associated with NDDs continue to have a role in adult human brain to explore the idea that NDD symptoms may be partially a result of their adult function rather than just their neurodevelopmental function. To demonstrate adult brain function, we performed expression analyses and ChIPseq in human neural stem cell(NSC) lines at different developmental stages and adult human brain, targeting two genes associated with NDDs, SATB2 and EHMT1, and the WNT signaling gene TCF7L2, which has not been associated with NDDs. Analysis of DNA interaction sites in neural stem cells reveals high (40-50 %) overlap between proliferating and differentiating cells for each gene in temporal space. Studies in adult brain demonstrate that consensus sites are similar to NSCs but occur at different genomic locations. We also performed expression analyses using BrainSpan data for NDD-associated genes SATB2, EHMT1, FMR1, MECP2, MBD5, CTNND2, RAI1, CHD8, GRIN2A, GRIN2B, TCF4, SCN2A, and DYRK1A and find high expression of these genes in adult brain, at least comparable to developing human brain, confirming that genes associated with NDDs likely have a role in adult tissue. Adult function of genes associated with NDDs might be important in clinical disease presentation and may be suitable targets for therapeutic intervention.

Indexed as

AdultBase SequenceCell LineConsensus SequenceFrontal LobeGene ExpressionGene Expression RegulationGene OntologyHistone-Lysine N-MethyltransferaseHumansMatrix Attachment Region Binding ProteinsMiddle AgedNeural Stem CellsNeurodevelopmental DisordersTranscription Factor 7-Like 2 ProteinTranscription FactorsEHMT1 protein, humanHistone-Lysine N-MethyltransferaseMatrix Attachment Region Binding ProteinsSATB2 protein, humanTCF7L2 protein, humanTranscription Factor 7-Like 2 ProteinTranscription Factors

Identifiers

PMID26194112
OpenAlexW973404646

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.