ReviewExperimental & molecular medicine2013
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
Review in Experimental & molecular medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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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.
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Who cites it
73 citing papers in PubMed, 114 citations in OpenAlex.
- Divergent transcriptomic pathways underlie sex-biased cognitive rescue by developmental GSK3B inhibition in a mouse model of 22q11.2 deletion syndrome.Translational psychiatry · 2026Article
- Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.Neuroscience · 2026Article
- Evaluating evidence for convergence between autism and schizophrenia.Molecular psychiatry · 2025Article
- Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.Translational psychiatry · 2025Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- Differences and similarities between the genetic architecture of lifetime substance use across different substances.Psychological medicine · 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
- The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Astrocyte allocation during brain development is controlled by Tcf4-mediated fate restriction.The EMBO journal · 2024Article
- Review
- Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome.BMJ case reports · 2024Article
- MicroRNA-495 Modulates Neuronal Layer Fate Determination by TargetingInternational journal of biological sciences · 2024Article
- Article
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
- Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability.Behavioural neurology · 2022Review
- Brain injury and inflammation genes common to a number of neurological diseases and the genes involved in the genesis of GABAnergic neurons are altered in monoamine oxidase B knockout mice.Brain research · 2022Article
- Transcription factor 4 controls positioning of cortical projection neurons through regulation of cell adhesion.Molecular psychiatry · 2021Article
- Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.Nature communications · 2021Article
- Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.Neurogenetics · 2021Article
- Disorders of the enteric nervous system - a holistic view.Nature reviews. Gastroenterology & hepatology · 2021Review
13 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
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Registered trials
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.