Associated Papers
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Hunt C et al.
Investigative Ophthalmology & Visual Science, 2025
40923693 (PubMed )
Supplement: iovs-66-12-22_s002.xlsx › ST7_Systemic_Disease
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Scarpato M et al.
Molecular Genetics & Genomic Medicine, 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
The first Chinese case with LCAEOD syndrome caused by mutation of TUBB4B gene.
Long YL et al.
International Journal of Ophthalmology, 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
TUBB4B is essential for the cytoskeletal architecture of cochlear supporting cells and motile cilia development.
Sanzhaeva U et al.
Communications Biology, 2024
TUBB4B is essential for the expansion of differentiating spermatogonia.
Sanzhaeva U et al.
Scientific Reports, 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
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.
Medina G et al.
Cold Spring Harbor Molecular Case Studies, 2021
Auditory impairment in H-ABC tubulinopathy.
Lopez-Juarez A et al.
The Journal of Comparative Neurology, 2021
Epistatic, synthetic, and balancing interactions among tubulin missense mutations affecting neurite growth in Caenorhabditis elegans.
Lee HMT et al.
Molecular Biology of the Cell, 2021
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R et al.
American Journal of Human Genetics, 2017
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