References
Feng, J., Wu, X., Zhang, Y., Yang, X., Ma, G., Chen, S., Luo, S., and Zhang, Y. (2019). A novel mutation (−195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD). Gene 719, 144007.
Guo, X., Liu, K., Liu, Y., Situ, Y., Tian, X., Xu, K.F., and Zhang, X. (2018). Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases. Orphanet J Rare Dis 13, 224.
Li, H., Lin, L., Hu, X., Li, C., and Zhang, H. (2019a). Liver failure in a Chinese cystic fibrosis child with homozygous R553X mutation. Front Pediatr 7, 36.
Li, P., Singh, J., Sun, Y., Ma, X., and Yuan, P. (2019b). CFTR constrains the differentiation from mouse embryonic stem cells to intestine lineage cells. Biochem Biophys Res Commun 510, 322–328.
Liu, K., Wang, X., Zou, C., Zhang, J., Chen, H., Tsang, L., Yu, M.K., Chung, Y.W., Wang, J., Dai, Y., et al. (2019). Defective CFTR promotes intestinal proliferation via inhibition of the hedgehog pathway during cystic fibrosis. Cancer Lett 446, 15–24.
Marshall, B., Faro, A., Elbert, A., Fink, A., Sewall, A., Loeffler, D., Fernandez, G., Ostrenga, J., Petren, K., Wu, R., et al. (2018). 2018 Patient Registry Annual Data Report. https://www.cff.org/Research/Re-searcher-Resources/Patient-Registry/.
Qiu, L., Yang, F., He, Y., Yuan, H., and Zhou, J. (2018). Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. Front Med 12, 550–558.
Rowe, S.M., Miller, S., and Sorscher, E.J. (2005). Cystic fibrosis. N Engl J Med 352, 1992–2001.
Ruan, J., Hirai, H., Yang, D., Ma, L., Hou, X., Jiang, H., Wei, H., Rajagopalan, C., Mou, H., Wang, G., et al. (2019). Efficient gene editing at major CFTR mutation loci. Mol Ther Nucleic Acids 16, 73- 81.
Shen, Y., Liu, J., Zhong, L., Mogayzel Jr., P.J., Zeitlin, P.L., Sosnay, P.R., and Zhao, S. (2016). Clinical phenotypes and genotypic spectrum of cystic fibrosis in Chinese children. J Pediatrics 171, 269–276.e1.
Sun, H., Wang, Y., Zhang, J., Chen, Y., Liu, Y., Lin, Z., Liu, M., Sheng, K., Liao, H., Tsang, K.S., et al. (2018). CFTR mutation enhances Dishevelled degradation and results in impairment of Wnt-dependent hematopoiesis. Cell Death Dis 9, 275.
Tian, X., Liu, Y., Yang, J., Wang, H., Liu, T., Xu, W., Li, X., Zhu, Y., Xu, K. F., and Zhang, X. (2016). p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis. Hum Genome Var 3, 15063.
Wang, X.L., Yin, Z.F., Shen, Y.L., Liu, H., Mogayzel, P.J., and Zhao, S.Y. (2019). Value of sweat conductivity testing in the diagnosis of cystic fibrosis in children. Chin J Pediatrics 57, 548–552.
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Zhang, T., Tian, X. & Xu, KF. Cystic fibrosis: a rare disease emerging in China. Sci. China Life Sci. 63, 1082–1084 (2020). https://doi.org/10.1007/s11427-020-1620-x
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DOI: https://doi.org/10.1007/s11427-020-1620-x