ArticleDevelopmental biology2020
TBX1 is required for normal stria vascularis and semicircular canal development.
Article in Developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025Pooled it
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Genome-wide association study indicates novel associations of annexin A13 to secretory and GAS2L2 with mucous otitis media.Scientific reports · 2024Article
- Identification of common stria vascularis cellular alteration in sensorineural hearing loss based on ScRNA-seq.BMC genomics · 2024Article
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.BMC biology · 2022Article
- Profiling mouse cochlear cell maturation using 10× Genomics single-cell transcriptomics.Frontiers in cellular neuroscience · 2022Article
- Building inner ears: recent advances and future challenges for in vitro organoid systems.Cell death and differentiation · 2021Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Little is known about the role of TBX1 in post-otocyst stages of inner ear development. Here, we report on mice with a missense mutation of Tbx1 that are viable with fully developed but abnormally formed inner ears. Mutant mice are deaf due to an undeveloped stria vascularis and show vestibular dysfunction associated with abnormal semicircular canal formation. We show that TBX1 is expressed in endolymph-producing strial marginal cells and vestibular dark cells of the inner ear and is an upstream regulator of Esrrb, which previously was shown to control the developmental fate of these cells. We also show that TBX1 is expressed in sensory cells of the crista ampullaris, which may relate to the semicircular canal abnormalities observed in mutant mice. Inner ears of mutant embryos have a non-resorbed fusion plate in the posterior semicircular canal and a single ampulla connecting anterior and lateral canals. We hypothesize that the TBX1 missense mutation prevents binding with specific co-regulatory proteins. These findings reveal previously unknown functions of TBX1 during later stages of inner ear development.
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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.