Osbpl2-KO 基因敲除小鼠

1. Wang, Yumeng, Zhao, Anqi, Zhou, Naihui, Li, Ming, Li, Min. 2024. OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. In Biochimica et biophysica acta. Molecular basis of disease, 1870, 167207. doi:10.1016/j.bbadis.2024.167207. https://pubmed.ncbi.nlm.nih.gov/38701954/

2. Xing, Guangqian, Yao, Jun, Wu, Bin, Yang, Xiaonan, Cao, Xin. 2014. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. In Genetics in medicine : official journal of the American College of Medical Genetics, 17, 210-8. doi:10.1038/gim.2014.90. https://pubmed.ncbi.nlm.nih.gov/25077649/

3. Yao, Jun, Zeng, Huasha, Zhang, Min, Cao, Xin, Dai, Yifan. 2019. OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia. In Journal of genetics and genomics = Yi chuan xue bao, 46, 379-387. doi:10.1016/j.jgg.2019.06.006. https://pubmed.ncbi.nlm.nih.gov/31451425/

4. Wang, Tianming, Zhang, Tianyu, Tang, Youzhi, Qu, Yuan, Cao, Xin. 2021. Oxysterol-binding protein-like 2 contributes to the developmental progression of preadipocytes by binding to β-catenin. In Cell death discovery, 7, 109. doi:10.1038/s41420-021-00503-2. https://pubmed.ncbi.nlm.nih.gov/34001864/

5. Wu, Ningjin, Husile, Husile, Yang, Liqing, Liu, Yangjian, Wu, Qizhu. 2019. A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family. In BMC medical genetics, 20, 43. doi:10.1186/s12881-019-0781-3. https://pubmed.ncbi.nlm.nih.gov/30894143/

6. Wang, Hongshun, Lin, Changsong, Yao, Jun, Xing, Guangqian, Cao, Xin. 2019. Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. In Cell death & disease, 10, 627. doi:10.1038/s41419-019-1858-9. https://pubmed.ncbi.nlm.nih.gov/31427568/

7. Zhang, Cui, Zhang, Hongdu, Zhang, Min, Xing, Guangqian, Cao, Xin. 2019. OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway. In Experimental cell research, 383, 111512. doi:10.1016/j.yexcr.2019.111512. https://pubmed.ncbi.nlm.nih.gov/31356817/