Associated Papers
Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.
Joo SY et al.
Scientific Reports, 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
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
35285517 (PubMed )
Supplement: BPH-179-3859-s004.xlsx › Genetic_Variations
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Chen X et al.
Human Molecular Genetics, 2021
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
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.
Moteki H et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
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