Associated Papers
A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
Zhang S et al.
Retinal Cases & Brief Reports, 2026
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Maasz A et al.
European Journal of Medical Genetics, 2022
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
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R et al.
American Journal of Human Genetics, 2017