Gnpat-KO 基因敲除小鼠

1. Sayed, Jamal, Gamal, Ahmed, Theyab, Abdulrahman, Algahtani, Mohamed, Aldaadi, Banan Bakheet. 2023. Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene. In Clinical case reports, 11, e7504. doi:10.1002/ccr3.7504. https://pubmed.ncbi.nlm.nih.gov/37323250/

2. Gu, Li, Zhu, Yahui, Lin, Xi, Prochownik, Edward V, Li, Youjun. 2018. Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis. In Cancer research, 78, 5808-5819. doi:10.1158/0008-5472.CAN-18-0340. https://pubmed.ncbi.nlm.nih.gov/30143522/

3. Levstik, Alexander, Stuart, Alan, Adams, Paul C. . GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis. In Annals of hepatology, 15, 907-910. doi:. https://pubmed.ncbi.nlm.nih.gov/27740525/

4. Ofman, R, Lajmir, S, Wanders, R J. . Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. In Biochemical and biophysical research communications, 281, 754-60. doi:. https://pubmed.ncbi.nlm.nih.gov/11237722/

5. Yang, Zhaohui, Bai, Caijuan, Pu, Youwei, Qi, Xuebin, Su, Bing. 2022. Genetic adaptation of skin pigmentation in highland Tibetans. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2200421119. doi:10.1073/pnas.2200421119. https://pubmed.ncbi.nlm.nih.gov/36161951/