Pjvk-flox 基因敲除小鼠

1. Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Santarelli, Rosamaria, Del Castillo, Ignacio. 2022. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. In Genes, 13, . doi:10.3390/genes13010149. https://pubmed.ncbi.nlm.nih.gov/35052489/

2. Lu, Ying-Chang, Tsai, Yi-Hsiu, Chan, Yen-Huei, Wu, Chen-Chi, Cheng, Yen-Fu. 2022. Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice. In JCI insight, 7, . doi:10.1172/jci.insight.152941. https://pubmed.ncbi.nlm.nih.gov/36278489/

3. Salame, Malak, Bonnet, Crystel, Singh-Estivalet, Amrit, Petit, Christine, Houmeida, Ahmed. 2024. Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment. In Journal of applied genetics, , . doi:10.1007/s13353-024-00903-x. https://pubmed.ncbi.nlm.nih.gov/39230647/

4. De Schutter, Elke, Roelandt, Ria, Riquet, Franck B, Wullaert, Andy, Vandenabeele, Peter. 2021. Punching Holes in Cellular Membranes: Biology and Evolution of Gasdermins. In Trends in cell biology, 31, 500-513. doi:10.1016/j.tcb.2021.03.004. https://pubmed.ncbi.nlm.nih.gov/33771452/

5. Wang, Jian, Fan, Ying-ying, Wang, Shu-juan, Wang, Jin-ling, Qiu, Jian-hua. 2011. Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. In PloS one, 6, e24000. doi:10.1371/journal.pone.0024000. https://pubmed.ncbi.nlm.nih.gov/21935370/

6. Cheng, Yen-Fu, Tsai, Yi-Hsiu, Huang, Chun-Ying, Hsu, Chuan-Jen, Wu, Chen-Chi. 2020. Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation. In Biochemical and biophysical research communications, 532, 675-681. doi:10.1016/j.bbrc.2020.07.101. https://pubmed.ncbi.nlm.nih.gov/32917362/

7. Zhang, Qiu-Jing, Lan, Lan, Li, Na, Han, Bing, Wang, Qiu-Ju. 2015. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. In Acta oto-laryngologica, 135, 211-6. doi:10.3109/00016489.2014.985799. https://pubmed.ncbi.nlm.nih.gov/25631766/

8. Kazmierczak, Marcin, Kazmierczak, Piotr, Peng, Anthony W, Franco, Santos J, Schwander, Martin. 2017. Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 37, 3447-3464. doi:10.1523/JNEUROSCI.2711-16.2017. https://pubmed.ncbi.nlm.nih.gov/28209736/

9. Liu, Wei, Kinnefors, Anders, Boström, Marja, Edin, Fredrik, Rask-Andersen, Helge. 2013. Distribution of pejvakin in human spiral ganglion: An immunohistochemical study. In Cochlear implants international, 14, 225-31. doi:10.1179/1754762812Y.0000000027. https://pubmed.ncbi.nlm.nih.gov/23407324/

10. Zheng, Zengzhang, Deng, Wanyan, Lou, Xiwen, Gong, Sitang, Liu, Xing. . Gasdermins: pore-forming activities and beyond. In Acta biochimica et biophysica Sinica, 52, 467-474. doi:10.1093/abbs/gmaa016. https://pubmed.ncbi.nlm.nih.gov/32294153/