IndraLab

Statements



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"In this study, we explored the application of genotype/pathophysiology-based customized pharmacology to functionally rescue impaired KCNQ4-mediated potassium currents related to novel DFNA2 variants."

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"Interestingly, we found that the KCNQ4 variants around the pore region produced a significantly impaired potassium current."

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"Most KCNQ4 mutations linked to hearing loss are clustered around the pore region of the protein and lead to loss of KCNQ4-mediated potassium currents."

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"18 Surface channel expression studies in Xenopus oocytes suggest that missense mutations in the P-loop of KCNQ4 reduce potassium currents in a dominant negative manner."