Lee TI, Young RA. Transcriptional regulation and its misregulation in disease. Cell. 2013;152(6):1237–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reixachs-Sole M, Eyras E. Uncovering the impacts of alternative splicing on the proteome with current omics techniques. Wiley Interdiscip Rev RNA. 2022;13(4):e1707.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee Y, Rio DC. Mechanisms and regulation of alternative Pre-mRNA splicing. Annu Rev Biochem. 2015;84:291–323.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang E, Aifantis I. RNA splicing and Cancer. Trends Cancer. 2020;6(8):631–44.

Article  CAS  PubMed  Google Scholar 

Bradley RK, Anczukow O. RNA splicing dysregulation and the hallmarks of cancer. Nat Rev Cancer. 2023;23(3):135–55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stanley RF, Abdel-Wahab O. Dysregulation and therapeutic targeting of RNA splicing in cancer. Nat Cancer. 2022;3(5):536–46.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bonnal SC, Lopez-Oreja I, Valcarcel J. Roles and mechanisms of alternative splicing in cancer - implications for care. Nat Rev Clin Oncol. 2020;17(8):457–74.

Article  PubMed  Google Scholar 

Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, et al. A framework for individualized splice-switching oligonucleotide therapy. Nature. 2023;619(7971):828–36.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wahl MC, Will CL, Luhrmann R. The spliceosome: design principles of a dynamic RNP machine. Cell. 2009;136(4):701–18.

Article  CAS  PubMed  Google Scholar 

Shenasa H, Bentley DL. Pre-mRNA splicing and its cotranscriptional connections. Trends Genet. 2023;39(9):672–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang Y, Qian J, Gu C, Yang Y. Alternative splicing and cancer: a systematic review. Signal Transduct Target Ther. 2021;6(1):78.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yan C, Wan R, Shi Y. Molecular mechanisms of pre-mRNA splicing through Structural Biology of the spliceosome. Cold Spring Harb Perspect Biol. 2019;11(1).

Rogalska ME, Vivori C, Valcarcel J. Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects. Nat Rev Genet. 2023;24(4):251–69.

Article  CAS  PubMed  Google Scholar 

Wang N, Hu Y, Wang Z. Regulation of alternative splicing: functional interplay with epigenetic modifications and its implication to cancer. Wiley Interdiscip Rev RNA. 2023:e1815.

Howard JM, Sanford JR. The RNAissance family: SR proteins as multifaceted regulators of gene expression. Wiley Interdiscip Rev RNA. 2015;6(1):93–110.

Article  CAS  PubMed  Google Scholar 

Geuens T, Bouhy D, Timmerman V. The hnRNP family: insights into their role in health and disease. Hum Genet. 2016;135(8):851–67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhou X, Wu W, Li H, Cheng Y, Wei N, Zong J, et al. Transcriptome analysis of alternative splicing events regulated by SRSF10 reveals position-dependent splicing modulation. Nucleic Acids Res. 2014;42(6):4019–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen X, Yang HT, Zhang B, Phillips JW, Cheng D, Rigo F, et al. The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells. Proc Natl Acad Sci U S A. 2023;120(28):e2220190120.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li D, Yu W, Lai M. Towards understandings of serine/arginine-rich splicing factors. Acta Pharm Sin B. 2023;13(8):3181–207.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wright CJ, Smith CWJ, Jiggins CD. Alternative splicing as a source of phenotypic diversity. Nat Rev Genet. 2022;23(11):697–710.

Article  CAS  PubMed  Google Scholar 

Pal S, Gupta R, Davuluri RV. Alternative transcription and alternative splicing in cancer. Pharmacol Ther. 2012;136(3):283–94.

Article  CAS  PubMed  Google Scholar 

Tao Y, Zhang Q, Wang H, Yang X, Mu H. Alternative splicing and related RNA binding proteins in human health and disease. Signal Transduct Target Ther. 2024;9(1):26.

Article  PubMed  PubMed Central  Google Scholar 

Kahles A, Lehmann KV, Toussaint NC, Huser M, Stark SG, Sachsenberg T, et al. Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 patients. Cancer Cell. 2018;34(2):211–24. e6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Diederichs S, Bartsch L, Berkmann JC, Frose K, Heitmann J, Hoppe C, et al. The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations. EMBO Mol Med. 2016;8(5):442–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen S, Benbarche S, Abdel-Wahab O. Splicing factor mutations in hematologic malignancies. Blood. 2021;138(8):599–612.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhou Z, Gong Q, Wang Y, Li M, Wang L, Ding H, et al. The biological function and clinical significance of SF3B1 mutations in cancer. Biomark Res. 2020;8:38.

Article  PubMed  PubMed Central  Google Scholar 

Yoshida H, Park SY, Sakashita G, Nariai Y, Kuwasako K, Muto Y, et al. Elucidation of the aberrant 3’ splice site selection by cancer-associated mutations on the U2AF1. Nat Commun. 2020;11(1):4744.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nian Q, Li Y, Li J, Zhao L, Rodrigues Lima F, Zeng J et al. U2AF1 in various neoplastic diseases and relevant targeted therapies for malignant cancers with complex mutations (review). Oncol Rep. 2024;51(1).

Lance A, Druhan LJ, Vestal CG, Steuerwald NM, Hamilton A, Smith M, et al. Altered expression of CSF3R splice variants impacts signal response and is associated with SRSF2 mutations. Leukemia. 2020;34(2):369–79.

Article  CAS  PubMed  Google Scholar 

Jayasinghe RG, Cao S, Gao Q, Wendl MC, Vo NS, Reynolds SM, et al. Systematic analysis of splice-site-creating mutations in Cancer. Cell Rep. 2018;23(1):270–81. e3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shuai S, Suzuki H, Diaz-Navarro A, Nadeu F, Kumar SA, Gutierrez-Fernandez A, et al. The U1 spliceosomal RNA is recurrently mutated in multiple cancers. Nature. 2019;574(7780):712–6.

Article  CAS  PubMed  Google Scholar 

Lv Y, Zhang W, Zhao J, Sun B, Qi Y, Ji H, et al. SRSF1 inhibits autophagy through regulating Bcl-x splicing and interacting with PIK3C3 in lung cancer. Signal Transduct Target Ther. 2021;6(1):108.

Article