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Lenti ORF clone of Human potassium voltage gated channel KQT like subfamily member 4 KCNQ4 transcript variant 1 mGFP tagged
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Image Search Results
Journal: Experimental & molecular medicine
Article Title: Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
doi: 10.1038/s12276-019-0300-9
Figure Lengend Snippet: Fig. 1 Autosomal dominant non-syndromic hearing loss (DFNA2)-associated KCNQ4 variants. a Exon structure of human KCNQ4 cDNA and domain structure of KCNQ4 are shown. Only variants identified in individuals with DFNA2 are shown. KCNQ4 contains 14 exons; the positions of the start (ATG) and stop (TGA) codons are indicated. Loss-of-function mutations, such as nonsense and frameshift mutations, are indicated. b Missense and in-frame deletion mutations are indicated. Note that mutations are clustered in exons 5 and 6, which encode part of the transmembrane (TM) 5, pore region, and TM6. The pathogenic variants identified by our group are shown in blue
Article Snippet: Plasmid construction and site-directed mutagenesis Complementary DNAs (cDNAs) of
Techniques:
Journal: Experimental & molecular medicine
Article Title: Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
doi: 10.1038/s12276-019-0300-9
Figure Lengend Snippet: Fig. 4 Effect of retigabine on current produced by KCNQ4 mutants. a Enhancement of voltage-gated potassium channel activity of wild-type (WT) KCNQ4 by retigabine. b Summary bar graph of current produced by KCNQ4 mutants and rescued by retigabine versus that of WT, obtained from steady-state currents elicited at 40 mV shown in Supplementary Fig. 2. Current values were 131.4 ± 37.6 pA/pF (n = 11), 194 ± 28.3 pA/pF (n = 9), 229.2 ± 62.2 pA/pF (n = 6), 129.7 ± 23.2 pA/pF (n = 8), 126.4 ± 17.8 pA/pF (n = 10), 58.8 ± 21.5 pA/pF (n = 6), 24.4 ± 3.3 pA/pF (n = 4), 37.4 ± 8.6 pA/pF (n = 4), and 30.4 ± 5.8 pA/pF (n = 5) for p.T278A, p.S273A, p.L281M, p.L295P, p.R433W, p.N264S, p.S269F, p.W276S, and green fluorescent protein, respectively. c Effect of retigabine on thallium influx in cells expressing WT and mutant KCNQ4. Data represent the mean ± SEM. **P < 0.01, ***P < 0.001 compared to WT (a, b) or mock (c). Statistical analysis was performed using one-way ANOVA with Bonferroni’s multiple comparison
Article Snippet: Plasmid construction and site-directed mutagenesis Complementary DNAs (cDNAs) of
Techniques: Produced, Activity Assay, Expressing, Mutagenesis, Comparison