Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Mechanisms of ligand recognition and channel opening for P2X2 receptors in lipid nanodiscs.
Dhingra S et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Single-dose genome editing therapy rescues auditory and vestibular functions in adult mice with DFNA41 deafness.
Wei W et al.
The Journal of Clinical Investigation, 2025
Subtype-specific structural features of the hearing loss-associated human P2X2 receptor.
Westermann FG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Differential Effects of Hearing Loss Mutations in Homomeric P2X2 and Heteromeric P2X2/3 Receptors.
Wand PL et al.
Cells, 2025
Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene.
Li Q et al.
American Journal of Medical Genetics. Part A, 2025
Engineering a human P2X2 receptor with altered ligand selectivity in yeast.
Gardner EC et al.
The Journal of Biological Chemistry, 2024
Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8.
Du W et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Rescue of Auditory Function by a Single Administration of AAV- TMPRSS3 Gene Therapy in Aged Mice of Human Recessive Deafness DFNB8.
Du W et al.
Biorxiv : the Preprint Server for Biology, 2023
P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.
Gasparri F et al.
British Journal of Pharmacology, 2022
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss
Azizi Malamiri R et al.
Iranian Biomedical Journal, 2021
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Chen X et al.
Human Molecular Genetics, 2021
Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene.
Gosstola NC et al.
Stem Cell Research, 2020
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.
Liu XZ et al.
The Laryngoscope, 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
Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms.
George B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Efficient introduction of an isogenic homozygous mutation to induced pluripotent stem cells from a hereditary hearing loss family using CRISPR/Cas9 and single-stranded donor oligonucleotides.
Dong Y et al.
The Journal of International Medical Research, 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
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R et al.
Bmc Medical Genomics, 2018
P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism.
Zhu Y et al.
Frontiers in Molecular Neuroscience, 2017
Characterization of ATPase Activity of P2RX2 Cation Channel.
Mittal R et al.
Frontiers in Physiology, 2016
Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers.
Caseley EA et al.
International Journal of Molecular Sciences, 2014
Next-generation sequencing in genetic hearing loss.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2013
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.
Yan D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013