Associated Papers
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Cao LY et al.
Ophthalmic Genetics, 2025
R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line.
Smaili W et al.
Developmental Biology, 2025
Mutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family.
Gregory-Evans CY et al.
Molecular Vision, 2025
ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish.
Qin W et al.
Nature Communications, 2024
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Bodenbender JP et al.
Scientific Reports, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO et al.
Science (new York, N.y.), 2024
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
McFadden JR et al.
Molecular Genetics and Metabolism Reports, 2023
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