Smpx-KO 基因敲除小鼠

1. Ghilardi, Anna, Diana, Alberto, Bacchetta, Renato, Prosperi, Laura, Del Giacco, Luca. 2021. Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos. In International journal of molecular sciences, 22, . doi:10.3390/ijms22126497. https://pubmed.ncbi.nlm.nih.gov/34204426/

2. Deng, Yuyuan, Niu, Zhijie, Fan, LiangLiang, Liu, Yalan, Feng, Yong. 2018. A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. In Journal of human genetics, 63, 723-730. doi:10.1038/s10038-018-0443-x. https://pubmed.ncbi.nlm.nih.gov/29559740/

3. Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Hackman, Peter, Udd, Bjarne. 2021. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. In Acta neuropathologica, 142, 375-393. doi:10.1007/s00401-021-02319-x. https://pubmed.ncbi.nlm.nih.gov/33974137/

4. Guo, Yingyuan, Hao, Yanru, Zhang, Dejun, Bai, Jie, Guan, Guofang. . A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family. In Translational pediatrics, 10, 378-387. doi:10.21037/tp-20-435. https://pubmed.ncbi.nlm.nih.gov/33708524/