Cog5-KO 基因敲除小鼠

1. Wang, Yu-Chi, Niu, Dau-Ming, Chen, Li-Zhen, Chen, Yun-Ru, Yang, Chia-Feng. 2024. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay. In Molecular genetics and metabolism reports, 39, 101072. doi:10.1016/j.ymgmr.2024.101072. https://pubmed.ncbi.nlm.nih.gov/38559322/

2. Wang, Xi, Han, Lin, Wang, Xiao-Yan, Jin, Chun-Hua, Wang, Lin. 2020. Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation. In Frontiers in genetics, 11, 168. doi:10.3389/fgene.2020.00168. https://pubmed.ncbi.nlm.nih.gov/32174980/

3. Yin, Shaowei, Gong, Liying, Qiu, Hao, Liang, Bo, Lv, Yuan. 2019. Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report. In Experimental and therapeutic medicine, 18, 2695-2700. doi:10.3892/etm.2019.7834. https://pubmed.ncbi.nlm.nih.gov/31572517/

4. Buyukdogan, Murat, Hancer, Veysel Sabri, Sucak, Ayhan. 2023. The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant. In Molecular syndromology, 14, 181-183. doi:10.1159/000527221. https://pubmed.ncbi.nlm.nih.gov/37064333/

5. Kim, Young Ok, Yun, Misun, Jeong, Jae Ho, Hong, Yeongjin, Woo, Young Jong. . A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. In Journal of Korean medical science, 32, 1885-1890. doi:10.3346/jkms.2017.32.11.1885. https://pubmed.ncbi.nlm.nih.gov/28960046/

6. Ferrer, Alejandro, Starosta, Rodrigo Tzovenos, Ranatunga, Wasantha, Wick, Myra, Morava, Eva. 2020. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. In Molecular genetics and metabolism, 131, 424-429. doi:10.1016/j.ymgme.2020.11.003. https://pubmed.ncbi.nlm.nih.gov/33187827/

7. Farkas, Rebecca M, Giansanti, Maria Grazia, Gatti, Maurizio, Fuller, Margaret T. . The Drosophila Cog5 homologue is required for cytokinesis, cell elongation, and assembly of specialized Golgi architecture during spermatogenesis. In Molecular biology of the cell, 14, 190-200. doi:. https://pubmed.ncbi.nlm.nih.gov/12529436/

8. Paesold-Burda, Patricie, Maag, Charlotte, Troxler, Heinz, Baumgartner, Matthias, Hennet, Thierry. 2009. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. In Human molecular genetics, 18, 4350-6. doi:10.1093/hmg/ddp389. https://pubmed.ncbi.nlm.nih.gov/19690088/

9. Velagaleti, Gopalrao V N, Tonk, Vijay S, Hakim, Nawar M, Medeiros, Fabiola, Oliveira, Andre M. . Fusion of HMGA2 to COG5 in uterine leiomyoma. In Cancer genetics and cytogenetics, 202, 11-6. doi:10.1016/j.cancergencyto.2010.06.002. https://pubmed.ncbi.nlm.nih.gov/20804914/

10. Haijes, Hanneke A, Jaeken, Jaak, Foulquier, François, van Hasselt, Peter M. 2017. Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. In Journal of medical genetics, 55, 137-142. doi:10.1136/jmedgenet-2017-104586. https://pubmed.ncbi.nlm.nih.gov/28848061/