Associated Papers
Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.
Sarosiak A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
The p. S178L mutation in Tbc1d24 disrupts endosome-mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice.
Chen P et al.
Clinical Genetics, 2025
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Tona R et al.
The Journal of Biological Chemistry, 2024
Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.
Li S et al.
Medicine, 2024
Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Lei P et al.
Scientific Reports, 2024
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human Genetics, 2022
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Oziębło D et al.
Scientific Reports, 2021
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
Tinker RJ et al.
American Journal of Medical Genetics. Part A, 2020
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R et al.
Genes, 2020
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
Parzefall T et al.
Frontiers in Cellular Neuroscience, 2020
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R et al.
Human Molecular Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Unresolved questions regarding human hereditary deafness.
Rehman AU et al.
Oral Diseases, 2017
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Ngoh A et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2017
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Fischer B et al.
Nature Structural & Molecular Biology, 2016
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Appavu B et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A et al.
Plos One, 2015
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H et al.
Human Mutation, 2014
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Zhang L et al.
Human Mutation, 2014