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第46卷第1期 马 金,沈 滟,沈国民,等. F9基因剪接位点共识区域中内含子突变造成的异常剪接模式
2026年1月 研究[J]. 南京医科大学学报(自然科学版),2026,46(1):55-67 · 67 ·
tron mutations and early transcription termination in ic minigene assays[J]. J Pathol,2019,248(4):409-420
Duchenne and Becker muscular dystrophy[J]. Hum Mu⁃ [24]MEIRELES M R,BRAGATTE M A S,BANDINELLI E,
tat,2022,43(4):511-528 et al. A new in silico approach to investigate molecular as⁃
[16]XU X W,ZHANG X J,ZHANG M Y,et al. A rare ACAN pects of factor Ⅸ missense causative mutations and their
non⁃canonical splicing⁃site intron variant results in famil⁃ impact on the hemophilia B severity[J]. Hum Mutat,
ial short stature[J]. Gene,2024,925:148602 2019,40(6):706-715
[17]LEE Y,RIO D C. Mechanisms and regulation of alterna⁃ [25]CHEN P H,WANG L H,CHAI Y C,et al. Detection and
tive pre⁃mRNA splicing[J]. Annu Rev Biochem,2015, functional verification of noncanonical splice site muta⁃
84:291-323 tions in hereditary deafness[J]. Front Genet,2021,12:
[18]BRADLEY R K,ANCZUKÓW O. RNA splicing dysregu⁃ 773922
lation and the hallmarks of cancer[J]. Nat Rev Cancer, [26]DE SAINTE AGATHE J M,FILSER M,ISIDOR B,et al.
2023,23(3):135-155 SpliceAI ⁃ visual:a free online tool to improve SpliceAI
[19]ROGALSKA M E,VIVORI C,VALCÁRCEL J. Regula⁃ splicing variant interpretation[J]. Hum Genomics,2023,
tion of pre⁃mRNA splicing:roles in physiology and dis⁃ 17(1):7
ease,and therapeutic prospects[J]. Nat Rev Genet,2023, [27]HOLMES M E,HERTEL K J. Interdependent regulation
24(4):251-269 of alternative splicing by SR and hnRNP proteins[J/OL].
[20]SHENASA H,BENTLEY D L. Pre⁃mRNA splicing and its bioRxiv,2024[2024⁃08⁃19]. DOI:10.1101/2024.08.19.
cotranscriptional connections[J]. Trends Genet,2023,39 608666
(9):672-685 [28]TAO Y N,ZHANG Q,WANG H Y,et al. Alternative
[21]CAMINSKY N,MUCAKI E J,ROGAN P K. Interpreta⁃ splicing and related RNA binding proteins in human
tion of mRNA splicing mutations in genetic disease:re⁃ health and disease[J]. Signal Transduct Target Ther,
view of the literature and guidelines for information⁃theo⁃ 2024,9:26
retical analysis[J]. F1000Res,2014,3:282 [29]ZHANG Q,AI Y X,ABDEL⁃WAHAB O. Molecular im⁃
[22]ZHANG H Y,XIN M,LIN L Y,et al. Pleiotropic effects pact of mutations in RNA splicing factors in cancer[J].
of different exonic nucleotide changes at the same posi⁃ Mol Cell,2024,84(19):3667-3680
tion contribute to hemophilia B phenotypic variation[J]. J [30]GOODEVE A C. Hemophilia B:molecular pathogenesis
Thromb Haemost,2024,22(4):975-989 and mutation analysis[J]. J Thromb Haemost,2015,13
[23]FRAILE⁃BETHENCOURT E,VALENZUELA⁃PALOMO (7):1184-1195
A,DÍEZ⁃GÓMEZ B,et al. Mis⁃splicing in breast cancer: (收稿:2025-03-10;修回:2025-05-06;录用:2025-06-01)
identification of pathogenic BRCA2 variants by systemat⁃ (本文编辑:陈汐敏)
(上接第54页)
stroke[J]. J Nanobiotechnology,2024,22(1):800
Microbiol,2025,51(2):246-263 [25]JIA K X,ZHANG Y H,LI F H,et al. Acteoside amelio⁃
[22]SEN S,BAL S K,YADAV S,et al. Intracellular pathogen rates hepatocyte ferroptosis and hepatic ischemia⁃reperfu⁃
Leishmania intervenes in iron loading into ferritin by sion injury via targeting PCBP2[J]. Acta Pharm Sin B,
cleaving chaperones in host macrophages as an iron acqui⁃ 2025,15(4):2077-2094
sition strategy[J]. J Biol Chem,2022,298(12):102646 [26]YUE L,LUO Y G,JIANG L,et al. PCBP2 knockdown pro⁃
[23]JIANG L,ZHENG H,ISHIDA M,et al. Elaborate coopera⁃ motes ferroptosis in malignant mesothelioma[J]. Pathol
tion of poly(rC)⁃binding proteins 1/2 and glutathione in Int,2022,72(4):242-251
ferroptosis induced by plasma⁃activated Ringer ’s lac⁃ [27]CHENG J H,TAO J,LI B Q,et al. Swine influenza virus
tate[J]. Free Radic Biol Med,2024,214:28-41 triggers ferroptosis in A549 cells to enhance virus replica⁃
[24]GUO F,WU Y Z,WANG G J,et al. Role of PCBP2 in reg⁃ tion[J]. Virol J,2022,19(1):104
ulating nanovesicles loaded with curcumin to mitigate (收稿:2025-08-15;修回:2025-09-18;录用:2025-10-18)
neuroferroptosis in neural damage caused by heat (本文编辑:陈汐敏)

