ArticleThe Journal of biological chemistry2009
Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities.
Article in The Journal of biological chemistry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 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
50 citing papers in PubMed, 80 citations in OpenAlex.
- The Biological Effects of Boron in Animals and Humans.Biological trace element research · 2026Review
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- Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.bioRxiv : the preprint server for biology · 2025Article
- Review
- Review
- Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.PloS one · 2024Article
- NHFrontiers in physiology · 2024Article
- Animal Models in Eye Research: Focus on Corneal Pathologies.International journal of molecular sciences · 2023Review
- Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIPNature communications · 2023Article
- The HCells · 2022Review
- Altered gene expression in slc4a11Scientific reports · 2021Article
- Borax-loaded injectable alginate hydrogels promote muscle regeneration in vivo after an injury.Materials science & engineering. C, Materials for biological applications · 2021Article
- Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.Journal of human genetics · 2021Observational
- Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.Progress in retinal and eye research · 2021Review
- Article
- Borax induces osteogenesis by stimulating NaBC1 transporter via activation of BMP pathway.Communications biology · 2020Article
- Boron improves cardiac contractility and fibrotic remodeling following myocardial infarction injury.Scientific reports · 2020Article
- pH dependence of the Slc4a11-mediated HAmerican journal of physiology. Cell physiology · 2020Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
NaBC1 (the SLC4A11 gene) belongs to the SLC4 family of sodium-coupled bicarbonate (carbonate) transporter proteins and functions as an electrogenic sodium borate cotransporter. Mutations in SLC4A11 cause either corneal abnormalities (corneal hereditary dystrophy type 2) or a combined auditory and visual impairment (Harboyan syndrome). The role of NaBC1 in sensory systems is poorly understood, given the difficulty of studying patients with NaBC1 mutations. We report our findings in Slc4a11(-/-) mice generated to investigate the role of NaBC1 in sensorineural systems. In wild-type mice, specific NaBC1 immunoreactivity was detected in fibrocytes of the spiral ligament, from the basal to the apical portion of the cochlea. NaBC1 immunoreactivity was present in the vestibular labyrinth, in stromal cells underneath the non-immunoreactive sensory epithelia of the macula utricle, sacule, and crista ampullaris, and the membranous vestibular labyrinth was collapsed. Both auditory brain response and vestibular evoked potential waveforms were significantly abnormal in Slc4a11(-/-) mice. In the cornea, NaBC1 was highly expressed in the endothelial cell layer with less staining in epithelial cells. However, unlike humans, the corneal phenotype was mild with a normal slit lamp evaluation. Corneal endothelial cells were morphologically normal; however, both the absolute height of the corneal basal epithelial cells and the relative basal epithelial cell/total corneal thickness were significantly increased in Slc4a11(-/-) mice. Our results demonstrate for the first time the importance of NaBC1 in the audio-vestibular system and provide support for the hypothesis that SLC4A11 should be considered a potential candidate gene in patients with isolated sensorineural vestibular hearing abnormalities.
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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.