Cfap300-flox 基因敲除小鼠

1. Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R, Mitchison, Hannah M, Sironen, Anu I. 2022. CFAP300 mutation causing primary ciliary dyskinesia in Finland. In Frontiers in genetics, 13, 985227. doi:10.3389/fgene.2022.985227. https://pubmed.ncbi.nlm.nih.gov/36246608/

2. Jat, Kana Ram, Faruq, Mohammed, Jindal, Shishir, Arava, Sudheer K, Kabra, Sushil K. 2024. Genetics of 67 patients of suspected primary ciliary dyskinesia from India. In Clinical genetics, 106, 650-658. doi:10.1111/cge.14590. https://pubmed.ncbi.nlm.nih.gov/39004944/

3. Zlotina, Anna, Barashkova, Svetlana, Zhuk, Sergey, Berleva, Olga, Kostareva, Anna. 2024. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis. In Orphanet journal of rare diseases, 19, 310. doi:10.1186/s13023-024-03318-3. https://pubmed.ncbi.nlm.nih.gov/39180133/

4. Bolkier, Yoav, Barel, Ortal, Marek-Yagel, Dina, Vivante, Asaf, Pode-Shakked, Ben. 2021. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects. In Journal of medical genetics, 59, 691-696. doi:10.1136/jmedgenet-2021-107775. https://pubmed.ncbi.nlm.nih.gov/34215651/

5. Zietkiewicz, Ewa, Bukowy-Bieryllo, Zuzanna, Rabiasz, Alicja, Rasteiro, Margarida, Witt, Michal. . CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. In American journal of respiratory cell and molecular biology, 61, 440-449. doi:10.1165/rcmb.2018-0260OC. https://pubmed.ncbi.nlm.nih.gov/30916986/

6. Zhou, Zheng, Qi, Qi, Wang, Wen-Hua, Ma, Jin-Zhao, Yao, Bing. 2024. A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility. In Asian journal of andrology, 27, 113-119. doi:10.4103/aja202477. https://pubmed.ncbi.nlm.nih.gov/39254424/

7. Yiallouros, Panayiotis K, Kouis, Panayiotis, Kyriacou, Kyriacos, Loizidou, Maria A, Hadjisavvas, Andreas. 2021. Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence. In Human mutation, 42, e62-e77. doi:10.1002/humu.24196. https://pubmed.ncbi.nlm.nih.gov/33715250/

8. Fassad, Mahmoud R, Shoemark, Amelia, le Borgne, Pierrick, Tassin, Anne-Marie, Mitchison, Hannah M. . C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. In American journal of human genetics, 102, 956-972. doi:10.1016/j.ajhg.2018.03.024. https://pubmed.ncbi.nlm.nih.gov/29727692/

9. Aprea, Isabella, Raidt, Johanna, Höben, Inga Marlena, Kliesch, Sabine, Omran, Heymut. 2021. Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. In PLoS genetics, 17, e1009306. doi:10.1371/journal.pgen.1009306. https://pubmed.ncbi.nlm.nih.gov/33635866/