IndraLab

Statements

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"Interestingly, we found that the KCNQ4 variants around the pore region produced a significantly impaired potassium current."
31434872
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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."
31434872
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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."
34316018
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"Molecular modeling analysis suggested that the p.Ser269del mutation could cause structural distortion and change in the electrostatic surface potential of the KCNQ4 channel protein, which may impede K+ transport."
23399560
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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."
21242547