Mkks-flox 基因敲除小鼠

1. Slavotinek, A M, Searby, C, Al-Gazali, L, Zackai, E, Biesecker, L G. 2002. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. In Human genetics, 110, 561-7. doi:. https://pubmed.ncbi.nlm.nih.gov/12107442/

2. Hirayama, Shoshiro, Yamazaki, Yuji, Kitamura, Akira, Kubota, Hiroshi, Nagata, Kazuhiro. 2007. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. In Molecular biology of the cell, 19, 899-911. doi:. https://pubmed.ncbi.nlm.nih.gov/18094050/

3. Li, Hao, Hu, Zhangxue. . [Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39, 754-758. doi:10.3760/cma.j.cn511374-20220427-00285. https://pubmed.ncbi.nlm.nih.gov/35810436/

4. Huang, Li, Sun, Limei, Wang, Zhirong, Luo, Xiaoling, Ding, Xiaoyan. 2021. Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome. In Journal of ophthalmology, 2021, 6751857. doi:10.1155/2021/6751857. https://pubmed.ncbi.nlm.nih.gov/33520300/