ArticleHuman molecular genetics2019
FOXF2 is required for cochlear development in humans and mice.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Forkhead box D subfamily genes in colorectal cancer: potential biomarkers and therapeutic targets.PeerJ · 2024Article
- Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.Orphanet journal of rare diseases · 2023Review
- Hedgehog signaling activates a mammalian heterochronic gene regulatory network controlling differentiation timing across lineages.Developmental cell · 2022Article
- Mutations inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Article
- The regulatory roles and mechanisms of the transcription factor FOXF2 in human diseases.PeerJ · 2021Article
- si-SNHG5-FOXF2 inhibits TGF-β1-induced fibrosis in human primary endometrial stromal cells by the Wnt/β-catenin signalling pathway.Stem cell research & therapy · 2020Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.The Journal of clinical investigation · 2020Article
- FOXF2 acts as a crucial molecule in tumours and embryonic development.Cell death & disease · 2020Review
- Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear AnomaliesBalkan medical journal · 2019Review
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Authors and funding
23 authors at 7 institutions in 4 countries.
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Abstract
Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wild type. Foxf2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to SNHL and developmental anomalies of the cochlea in humans and mice.
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