Bfsp2-flox 基因敲除小鼠

1. Jakobs, P M, Hess, J F, FitzGerald, P G, Weleber, R G, Litt, M. 2000. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. In American journal of human genetics, 66, 1432-6. doi:. https://pubmed.ncbi.nlm.nih.gov/10739768/

2. Liu, Qing, Wang, Kai Jie, Zhu, Si Quan. 2014. A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. In Current eye research, 39, 1013-9. doi:10.3109/02713683.2014.891749. https://pubmed.ncbi.nlm.nih.gov/24654948/

3. Sandilands, Aileen, Wang, Xin, Hutcheson, Aileen M, Gong, Xiahou, Quinlan, Roy A. . Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. In Experimental eye research, 78, 109-23. doi:. https://pubmed.ncbi.nlm.nih.gov/14667833/

4. Sandilands, Aileen, Wang, Xin, Hutcheson, Aileen M, Gong, Xiahou, Quinlan, Roy A. . Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. In Experimental eye research, 78, 875-89. doi:. https://pubmed.ncbi.nlm.nih.gov/15037121/

5. Zhang, Lu, Gao, Linghan, Li, Zhijian, He, Lin, Liu, Ping. 2006. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. In Molecular vision, 12, 1626-31. doi:. https://pubmed.ncbi.nlm.nih.gov/17200662/

6. Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir, Alkuraya, Fowzan S. . Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. In Genetics in medicine : official journal of the American College of Medical Genetics, 13, 978-81. doi:10.1097/GIM.0b013e31822623d5. https://pubmed.ncbi.nlm.nih.gov/21836522/

7. Ma, Xu, Li, Fei-Feng, Wang, Shu-Zhen, Zhang, Meng, Zhu, Si-Quan. 2008. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. In Molecular vision, 14, 1906-11. doi:. https://pubmed.ncbi.nlm.nih.gov/18958306/

8. Qu, Bo, Landsbury, Andrew, Schönthaler, Helia Berrit, Prescott, Alan R, Quinlan, Roy A. 2011. Evolution of the vertebrate beaded filament protein, Bfsp2; comparing the in vitro assembly properties of a "tailed" zebrafish Bfsp2 to its "tailless" human orthologue. In Experimental eye research, 94, 192-202. doi:10.1016/j.exer.2011.12.001. https://pubmed.ncbi.nlm.nih.gov/22182672/