Associated Papers
Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells.
Wei G et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.
Kao WT et al.
Journal of the American Academy of Audiology, 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Sheng W et al.
Clinical Genetics, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G et al.
Hgg Advances, 2024
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.
Falace A et al.
Cells, 2024
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Rousseau J et al.
Genes, 2023
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Veltra D et al.
American Journal of Medical Genetics. Part A, 2022
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human Genetics, 2022
Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.
Gao X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.
Gao X et al.
Stem Cell Research, 2021
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.
Qiu S et al.
Frontiers in Cell and Developmental Biology, 2021
Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy.
Li Y et al.
Frontiers in Genetics, 2021
Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.
Gao X et al.
Stem Cell Research, 2020
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.
Zádori D et al.
Frontiers in Neurology, 2020
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
Zhao W et al.
Ebiomedicine, 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
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
Menendez I et al.
Clinical Case Reports, 2017
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F et al.
Nature Genetics, 2015
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
Yuan Y et al.
Cell Research, 2014
Association of Genetic Variations in Energy Metabolism Genes with Noise-Induced Hearing Loss in a Chinese Population: A Case-Control Study.
Wang B et al.
Noise & Health, 0