Establishment of the 3M syndrome animal model in CCDC8 knockout mice
Author:
Funder
Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Molecular Medicine,Molecular Biology
Link
https://link.springer.com/content/pdf/10.1186/s43556-023-00136-0.pdf
Reference10 articles.
1. Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser. 1975;11(5):39–47.
2. Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012;49(3):267–75. https://doi.org/10.1530/JME-12-0034.
3. Hanson D, Murray PG, O’Sullivan J, Urquhart J, Daly S, Bhaskar SS, et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet. 2011;89(1):148–53. https://doi.org/10.1016/j.ajhg.2011.05.028.
4. Jiang X, Jia X, Sun J, Qi C, Lu L, Wang Y, et al. Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation. Sci Rep. 2020;10(1):11416. https://doi.org/10.1038/s41598-020-68341-3.
5. Wei M, Zhao X, Liu M, Huang Z, Xiao Y, Niu M, et al. Inhibition of HIV-1 assembly by coiled-coil domain containing protein 8 in human cells. Sci Rep. 2015;5:14724. https://doi.org/10.1038/srep14724.
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