ArticleScientific reports2018
Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Article in Scientific reports, 2018. 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 9 papers.
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.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Examining Genetic Variants Associated with FOXP1 Syndrome through Molecular Dynamics of Its DNA-Binding Domain and Self-Organizing Maps.Journal of chemical information and modeling · 2026Article
- A review on hypervirulent and multidrug-resistant Klebsiella pneumoniae: An emerging threat to human health.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.Frontiers in psychiatry · 2025Article
- Case report: Expanding the phenotype ofFrontiers in neurology · 2023Article
- EWS splicing regulation contributes to balancing Foxp1 isoforms required for neuronal differentiation.Nucleic acids research · 2022Article
- Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.Molecular autism · 2021Article
- FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2021Review
- FOXP1 Interacts with MyoD to Repress its Transcription and Myoblast Conversion.Journal of cellular signaling · 2021Article
- Identification of novelFrontiers in neurologyArticle
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription factor, leads to developmental delay, intellectual disability, autism spectrum disorder, speech delay, and dysmorphic features. Most of the reported FOXP1 mutations occur on the C-terminus of the protein and cluster around to the forkhead domain. All reported FOXP1 pathogenic variants result in abnormal cellular localization and loss of transcriptional repression activity of the protein product. Here we present three patients with the same FOXP1 mutation, c.1574G>A (p.R525Q), that results in the characteristic loss of transcription repression activity. This mutation, however, represents the first reported FOXP1 mutation that does not result in cytoplasmic or nuclear aggregation of the protein but maintains normal nuclear localization.
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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.