Evidence map›Paper›PMID 33023670›Full record

ArticleMolecular autism2020

Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.

Jessica A Jiménez, Travis S Ptacek, Alex H Tuttle, Ralf S Schmid, Sheryl S Moy, Jeremy M Simon, Mark J Zylka

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Molecular autism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

30 citing papers in PubMed, 38 citations in OpenAlex.

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  5. bioRxiv : the preprint server for biology · 2026
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  8. Identifying environmental chemicals impacting neurodevelopment using a random mixture-based screening approach.Toxicological sciences : an official journal of the Society of Toxicology · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Jessica A Jiménez *Curriculum in Toxicology & Environmental Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID https://orcid.org/0000-0003-3296-4480
Travis S Ptacek *UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID https://orcid.org/0000-0002-4949-0149
Alex H TuttleUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Ralf S SchmidUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID https://orcid.org/0000-0002-1721-5775
Sheryl S MoyCarolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID https://orcid.org/0000-0001-7318-7900
Jeremy M SimonUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID https://orcid.org/0000-0003-3906-1663
Mark J ZylkaUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. zylka@med.unc.edu.ORCID https://orcid.org/0000-0003-0911-7902
University of North Carolina at Chapel Hill · US

Funding

UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3M
TOXICOLOGYT32ES007126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ILONA JASPERS, Bernard E. Weissman · 1985 to 2026
$13.0M
UNC Neuroscience Center Research Cores: MicroscopyP30NS045892 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2003 to 2022
$11.5M
Preclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7M
Postdoctoral Research in Neurodevelopmental DisordersT32HD040127 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN D PHILPOT, Mark D Shen · 2001 to 2026
$8.5M
Preclinical CoreU54HD079124 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LI, YUN · 2013 to 2019
$8.0M
Environmental-use chemicals that target pathways linked to autism and other neurodevelopmental disordersR35ES028366 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Mark J. Zylka · 2019 to 2026
$6.8M
The Elongation Hypothesis of AutismDP1ES024088 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2013 to 2017
$3.8M
Emotion-Modulated Psychophysiology of Autism Spectrum DisordersR21MH085254 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENNING, STEPHEN D, DICHTER, GABRIEL S · 2009 to 2010
$416k
NICHD NIH HHS P50 HD103573NICHD NIH HHS T32 HD040127NICHD NIH HHS U54 HD079124NIEHS NIH HHS DP1 ES024088NIEHS NIH HHS P30 ES010126NIEHS NIH HHS R35 ES028366NIEHS NIH HHS T32 ES007126NIMH NIH HHS R21 MH085254NINDS NIH HHS P30 NS045892
6 · The paper itself

Abstract

backgroundChromodomain helicase DNA-binding protein 8 (Chd8) is a high-confidence risk gene for autism spectrum disorder (ASD). However, how Chd8 haploinsufficiency impairs gene expression in the brain and impacts behavior at different stages of life is unknown.

methodsWe generated a mutant mouse line with an ASD-linked loss-of-function mutation in Chd8 (V986*; stop codon mutation). We examined the behavior of Chd8 mutant mice along with transcriptional changes in the cerebral cortex as a function of age, with a focus on one embryonic (E14.5) and three postnatal ages (1, 6, and 12 months).

resultsChd8 LIMITATIONS: It is unclear whether the transcriptional changes observed with age in Chd8

conclusionsCollectively, these data suggest that UPR/ER stress pathways are reduced in the cerebral cortex of aged Chd8

Indexed as

AnimalsAnxietyBehavior, AnimalBrainDNA-Binding ProteinsGene Expression ProfilingHaploinsufficiencyMice, Inbred C57BLOrgan SizePhenotypePhosphorylationProteostasisReflex, StartleRibosomal Protein S6Social InteractionSurvival AnalysisDNA-Binding Proteinsduplin protein, mouseRibosomal Protein S6Autism spectrum disorderBrain overgrowthCHD8Endoplasmic reticulum stressMacrocephalyUnfolded protein response

Identifiers

PMID33023670
PMCPMC7537101
OpenAlexW3092254899

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.