ArticleeLife2022
Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of
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In one paragraph
Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
5.0field-weighted citation impact, top 4% of its field
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
22 citing papers in PubMed, 28 citations in OpenAlex.
- Nickase NmCas9 unsilences paternal Ube3a in a mouse model of Angelman syndrome without causing AAV vector integration.Scientific reports · 2026Article
- Article
- Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.Gene therapy · 2026Article
- TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome.Frontiers in cell and developmental biology · 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
- AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription.Communications biology · 2025Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- The basic helix-loop-helix transcription factor TCF4 recruits the Mediator Complex to activate gonadal genes and drive ovarian development.bioRxiv : the preprint server for biology · 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
- Single-cell technology grows up: Leveraging high-resolution omics approaches to understand neurodevelopmental disorders.Current opinion in neurobiology · 2025Review
- The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.Cell communication and signaling : CCS · 2025Article
- Repurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.Frontiers in pharmacology · 2025Article
- AAV vector-derived elements integrate into Cas9-generated double-strand breaks and disrupt gene transcription.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.Orphanet journal of rare diseases · 2024Article
- FOXP1 regulates the development of excitatory synaptic inputs onto striatal neurons and induces phenotypic reversal with reinstatement.Science advances · 2024Article
- From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning.Journal of clinical medicine · 2024Article
- Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.Nature reviews. Gastroenterology & hepatology · 2024Review
- Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.Orphanet journal of rare diseases · 2024Article
- Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders.Communications medicine · 2024Review
- Transcription factor 4 expression in the developing non-human primate brain: a comparative analysis with the mouse brain.Frontiers in neuroanatomy · 2024Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Hyojin KimDepartment of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0001-8690-5617
Eric B GaoDepartment of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.
Adam DraperDepartment of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0003-0788-2088
Noah C BerensDepartment of Biology, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0002-7792-0142
Hanna VihmaDepartment of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0002-6128-636X
Xinyuan ZhangDepartment of Chemistry and Biochemistry, Bates College, Lewiston, United States.
Alexandra Higashi-HowardDepartment of Chemistry and Biochemistry, Bates College, Lewiston, United States.
Kimberly D RitolaHHMI Janelia Research Campus, Ashburn, United States.
Jeremy M SimonNeuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0003-3906-1663
Andrew J KennedyDepartment of Chemistry and Biochemistry, Bates College, Lewiston, United States.
Benjamin D PhilpotDepartment of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.ORCID 0000-0003-2746-9143
University of North Carolina at Chapel Hill · USBates College · USJanelia Research Campus · US
Funding
UNC Neuroscience Center Research Cores: MicroscopyP30NS045892 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2003 to 2022
$11.5MPreclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7MTCF4 in Pitt-Hopkins syndromeR01NS114086 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI PHILPOT, BENJAMIN D · 2019 to 2023
$1.7MNICHD NIH HHS P50 HD103573NINDS NIH HHS P30 NS045892NINDS NIH HHS R01 NS114086
Abstract
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by monoallelic mutation or deletion in the
Indexed as
Intellectual DisabilityAnimalsDisease Models, AnimalFaciesHyperventilationMicePhenotypeTranscription Factor 4Tcf4 protein, mouseTranscription Factor 4gene therapygeneticsgenomicsmouseneurodevelopmental disorderneurosciencePitt-Hopkins syndrome
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
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 Socratic graph.