ArticleNature neuroscience2020
A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
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Article in Nature neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 3 of them syntheses that pooled it.
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97citing papers in PubMed, 3 pooled it
16.2field-weighted citation impact, top 1% of its field
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Who cites it
97 citing papers in PubMed, 3 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- Molecular insights into enriched environments and behavioral improvements in autism: a systematic review and meta-analysis.Frontiers in psychiatry · 2024Pooled it
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Adult brain neurons require continual expression of the schizophrenia-risk gene Tcf4 for structural and functional integrity.Translational psychiatry · 2021Pooled it
- Beyond Histamine Blockade: Clemastine Fumarate as a Promoter of Myelin Regeneration, Inflammatory Regulation, and Neuroimmune Modulation in CNS Disorders.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2026Review
- MSL2 orchestrates oligodendrocyte precursor cell cycle via H3K4me3 to prevent white matter defects in neurodevelopmental disorders.Experimental & molecular medicine · 2026Article
- Myelin, white matter, and social deficits in autism spectrum disorder.Neural regeneration research · 2026Article
- Article
- Myelin dysfunction in autism spectrum disorder: insights into core symptoms and mechanisms of brain development.Molecular psychiatry · 2026Review
- Sex-specific changes in the hippocampal proteome of Negr1Biology of sex differences · 2026Article
- Selective enrichment of TCF4 in GABAergic neurons during postnatal primate development.Frontiers in neuroanatomy · 2026Article
- Myelination across the autism spectrum: therapeutic targeting of the oligodendrocyte lineage and myelination defects.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.bioRxiv : the preprint server for biology · 2025Article
- Chromatin remodeling factor BAF155 coordinates oligodendroglial-neuronal communications linked to regional myelination and autism-like behavioral deficits in mice.Nature communications · 2025Article
- Prenatal fentanyl exposure affects social dominance and myelination patterns in the adult mouse brain.Neuropharmacology · 2025Article
- Age-related differences in axon pruning and myelination may alter neural signaling in autism spectrum disorder.Molecular autism · 2025Article
- Scn2a-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in an ASD mouse model.Nature communications · 2025Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- Deregulated mRNA and microRNA Expression Patterns in the Prefrontal Cortex of the BTBR Mouse Model of Autism.Molecular neurobiology · 2025Article
- Hypomyelination in autism-associated neuroligin-3 mutant mice impairs parvalbumin interneuron excitability, gamma oscillations, and sensory discrimination.Nature communications · 2025Article
- An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.Cell communication and signaling : CCS · 2025Review
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 1 country.
BaDoi N Phan *Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-6331-5980
Joseph F Bohlen *Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Brittany A DavisLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Zengyou YeLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Huei-Ying ChenLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Brent MayfieldLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Srinidhi Rao SripathyLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Stephanie Cerceo PageLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Morganne N CampbellLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Hannah L SmithLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Danisha GallopLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Hyojin KimNeuroscience Center, University of North Carolina, Chapel Hill, NC, USA.
Courtney L ThaxtonNeuroscience Center, University of North Carolina, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-6733-369X
Jeremy M SimonNeuroscience Center, University of North Carolina, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0003-3906-1663
Emily E BurkeLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Joo Heon ShinLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Andrew J KennedyDepartment of Chemistry and Biochemistry, Bates College, Lewiston, ME, USA.
J David SweattDepartment of Pharmacology, Vanderbilt University, Nashville, TN, USA.
Benjamin D PhilpotNeuroscience Center, University of North Carolina, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0003-2746-9143
Andrew E JaffeLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA. andrew.jaffe@libd.org.ORCID http://orcid.org/0000-0001-6886-1454
Brady J MaherLieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA. brady.maher@libd.org.ORCID http://orcid.org/0000-0001-5930-885X
Johns Hopkins University · USUniversity of North Carolina at Chapel Hill · USBates College · USVanderbilt University · US
Funding
UNC MRDD Research CenterP30HD003110 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BELGER, AYSENIL · 1985 to 2012
$28.7MTRAINING PROGRAM FOR MD/PHD STUDENTST32GM008208 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI STEINMAN, RICHARD A · 1987 to 2021
$15.4MUNC Neuroscience Center Research Cores: MicroscopyP30NS045892 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2003 to 2022
$11.5MINTERDISCIPLINARY TRAINING PROGRAM IN NEUROSCIENCEST32MH015330 · NIMH · JOHNS HOPKINS UNIVERSITY · PI MARGOLIS, RUSSELL L · 1985 to 2024
$6.2MCellular and Molecular Analysis of the Schizophrenia and Autism Spectrum Disorder gene Transcription Factor 4 (TCF4)R01MH110487 · NIMH · LIEBER INSTITUTE, INC. · PI MAHER, BRADY J · 2016 to 2024
$5.2MMolecular and Behavioral Neurobiology of Transcription Factor TCF4R01MH104158 · NIMH · VANDERBILT UNIVERSITY · PI NISWENDER, COLLEEN M · 2014 to 2018
$1.9MTCF4 in Pitt-Hopkins syndromeR01NS114086 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI PHILPOT, BENJAMIN D · 2019 to 2023
$1.7MFunctional analysis of the Schizophrenia and Autism Spectrum Disorder gene TCF4 iR56MH104593 · NIMH · LIEBER INSTITUTE, INC. · PI MAHER, BRADY J · 2014 to 2015
$915kNICHD NIH HHS P30 HD003110NIGMS NIH HHS T32 GM008208NIMH NIH HHS R01 MH104158NIMH NIH HHS R01 MH110487NIMH NIH HHS R56 MH104593NIMH NIH HHS T32 MH015330NINDS NIH HHS P30 NS045892NINDS NIH HHS R01 NS114086
Abstract
Autism spectrum disorder (ASD) is genetically heterogeneous with convergent symptomatology, suggesting common dysregulated pathways. In this study, we analyzed brain transcriptional changes in five mouse models of Pitt-Hopkins syndrome (PTHS), a syndromic form of ASD caused by mutations in the TCF4 gene, but not the TCF7L2 gene. Analyses of differentially expressed genes (DEGs) highlighted oligodendrocyte (OL) dysregulation, which we confirmed in two additional mouse models of syndromic ASD (Pten
Indexed as
DNA FingerprintingAgingAnimalsAutism Spectrum DisorderCell CountFaciesGene Expression RegulationHumansHyperventilationIntellectual DisabilityMethyl-CpG-Binding Protein 2MiceMice, KnockoutMyelin SheathOligodendrogliaPrimary Cell CultureMecp2 protein, mouseMethyl-CpG-Binding Protein 2PTEN PhosphohydrolasePten protein, mouseTcf4 protein, mouseTranscription Factor 4
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