Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice

@inproceedings{Lu2013DifferencesIT,
  title={Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice},
  author={Y Lu and C C Wu and T H Yang and Yin-Hung Lin and I R Yu and Shu-Wha Lin and Qing Chang and Xi Lin and Jau-Min Wong and Chuan-Jen Hsu},
  booktitle={PloS one},
  year={2013}
}
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms. By using a genotype-driven approach, we established a knock-in mouse model (i.e., Slc26a4(tm2Dontuh/tm2Dontuh) mice) homozygous for the common p.H723R mutation in the East Asian population. To verify the pathogenicity of the p.H723R allele in mice, we further generated mice with compound… CONTINUE READING

From This Paper

Figures, tables, and topics from this paper.
4 Citations
42 References
Similar Papers

References

Publications referenced by this paper.
Showing 1-10 of 42 references

Similar Papers

Loading similar papers…