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Genetic Diseases

Rare/Orphan Diseases

  • Neil Bradbury
  • Robert J. Bridges
    • Michaels W.E., Bridges R.J., Hastings M.L. (2020) Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells. Nucleic Acids Research, 2020 1–14 doi: 10.1093/nar/gkaa490
    • Clancy J.P., Cotton C.U., Donaldson S.H., Solomon G.M., VanDevanter D.R., Boyle M.P., Gentzsch M., Nick J.A., Illek B., Wallenburg J.C., Sorscher E.J., Amaral M.D., Beekman J.M., Naren A.P., Bridges R.J., Thomas P.J., Cutting G., Rowe S., Durmowicz A.G., Mense M., Boeck K.D., Skach W., et al. (2018) CFTR modulator theratyping: Current status, gaps and future directions. J Cyst Fibros. Jun 19. pii: S1569-1993(18)30585-X. [Epub ahead of print] Review.
    • Robert J. Bridges and Neil A. Bradbury. Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator and Drugs: Insights from Cellular Trafficking. Handbook Exp Pharmacol. 245:385-425, January 2018.
    • Zeng M., Szymczak M., Ahuja M., Zheng C., Yin H., Swaim W., Chiorini J.A., Bridges R.J., and Muallem S. (2017) Restoration of CFTR Activity in Ducts Rescues Acinar Cell Function and Reduces Inflammation in Pancreatic and Salivary Glands of Mice. Gastroenterology. 153:1148-1159.
    • Xue X., Mutyam V., Thakerar A., Mobley J., Bridges R.J., Rowe S.M., Keeling K.M., and Bedwell D.M. (2017) Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences. Hum Mol Genet. 26:3116-3129.
  • Weihang (Valerie) Chai
    • Jaiswal, R.K., Lei, K-H., Chastain, M., Wang, Y., Shiva, O., Li, S., You, Z., Chi, P., Chai, W. CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection. Nature Comm. 14, Article number: 7882 (2023). PMID: 38036565
    • Nguyen, D.D., Kim, E., Le, N.T., Ding, X., Jaiswal, R.K., Kostlan, R.J., Nguyen, T.N.T., Shiva, O., Le, M.T., Chai, W. (2023) Deficiency of mammalian STN1 promotes colon cancer development via inhibiting DNA repair. Science Advances 9 (19): eadd8023. PMID: 37163605 (IF: 14.98)
    • Lei, K-H., Yang, H-L., Nguyen, D-D, Chang, H-Y, Yeh, H-Y., Lee, T-Y., Lyu, X., Chai, W., Li, W-L., Chi, P. (2021) Crosstalk between CST and RPA regulates RAD51 activity during replication stress. Nature Comm. 12(1):6412. PMID: 34741010. (IF: 14.919)
    • Lyu, X., Sang, P. S., Chai, W. (2021) CST in maintaining genome stability: beyond telomeres. DNA Repair. 102: 103104. (Review) 
    • Lyu, X., Lei, K-H., Sang, P. S., Shiva, O., Chastain, M., Chi, P., Chai, W. (2021) Human CST complex protects replication fork stability by directly blocking MRE11 degradation of nascent strand DNA. EMBO J. doi: 10.15252/embj.2019103654 (
    • Lyu, X., Chastain, M., Chai, W. (2019) Genome-wide mapping and profiling of gH2AX binding hotspots in response to different replication stress inducers. BMC Genomics. 20 (1): 579-592.
    • Wang, Y., Chai, W. (2018) Pathogenic CTC1 mutations cause global genome instabilities under replication stress. Nucleic Acids Res. 46 (8): 3981-3992. (IF: 10.162)
    • Huang, C., Jia, P., Chastain, M., Shiva, O., Dai, X., Chai, W. (2017) The Human CTC1/STN1/TEN1 Complex Localizes in ALT-Associated PML Bodies and Regulates Telomere maintenance in ALT cancer cells. Exp Cell Res. 355(2):95-104.
    • Jia, P., Chastain, M., Zou, Y., Her, C., Chai, W. (2017) Human MLH1 suppresses the insertion of telomeric sequences at intra-chromosomal sites in telomerase-expressing cells. Nucleic Acids Res. 45(3):1219-1232. doi: 10.1093/nar/gkw1170.
    • Chastain, M., Zhou, Q., Shiva, O., Fadri-Moskwik, M., Whitmore, L., Jia, P., Dai, X., Huang, C., Ye, P., Chai, W. (2016) Human CST facilitates genome-wide RAD51 recruitment to GC-rich repetitive sequences in response to replication stress.  Cell Reports. 16(5):1300-14
  • David M. Mueller