[1] Tărlungeanu DC, Novarino G. Genomics in neurodevelopmental disorders:An avenue to personalized medicine[J]. Exp Mol Med, 2018,50(8):1-7.
[2] Heath CG, Viphakone N, Wilson SA. The role of TREX in gene expression and disease[J]. Biochem J, 2016,473(19):2911-2935.
[3] Mattioli F, Isidor B, Abdul-Rahman O, et al. Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability[J]. Hum Mol Genet, 2019,28(6):952-960.
[4] Woerner AC, Frottin F, Hornburg D, et al. Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA[J]. Science, 2016,351(6269):173-176.
[5] Yuan X, Zhang T, Yao F, et al.The complex-dependent posttranscriptional control contributes to vascular smooth muscle cell fate decision[J]. Circ Res, 2018,123(5):538-549.
[6] Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue-based map of the human proteome[J]. Science, 2015,347(6220):1260419.
[7] Tamhankar V, Tamhankar P, Chaubal R, et al. Novel consensus splice site pathogenic variation in thoc2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: A case report[J]. Cureus, 2021,13(11):e19682.
[8] Kumar R, Corbett MA, van Bon BW, et al. THOC2 mutations implicate mRNA-Export pathway in X-linked intellectual disability[J]. Am J Hum Genet, 2015,97(2):302-310.
[9] Di Gregorio E, Bianchi FT, Schiavi A, et al. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia[J]. J Med Genet, 2013,50(8):543-551.
[10] Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery[J]. Hum Mutat, 2018,39(8):1126-1138.
[11] Kumar R, Palmer E, Gardner AE, et al. Expanding clinical presentations due to variations in THOC2 mrna nuclear export factor[J]. Front Mol Neurosci, 2020,13:12.
[12] Kubina J, Geldreich A, Gales JP, et al. Nuclear export of plant pararetrovirus mRNAs involves the TREX complex, two viral proteins and the highly structured 5' leader region[J]. Nucleic Acids Res, 2021,49(15):8900-8922.
[13] Cai S, Bai Y, Wang H, et al. Knockdown of THOC1 reduces the proliferation of hepatocellular carcinoma and increases the sensitivity to cisplatin[J]. J Exp Clin Cancer Res, 2020,39(1):135.
[14] Saran S, Tran DD, Ewald F, et al. Depletion of three combined THOC5 mRNA export protein target genes synergistically induces human hepatocellular carcinoma cell death[J].Oncogene, 2016,35(29):3872-3879.
[15] Lemire G, Innes AM, Boycott KM. THOC6 Intellectual Disability Syndrome[M].//Adam MP, Ardinger HH, Pagon RA, et al.GeneReviews^®. Seattle (WA): University of Washington, Seattle, August 13, 2020.
[16] Niemi MEK, Martin HC, Rice DL, et al. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders[J]. Nature, 2018,562(7726):268-271.
[17] Chi B, Wang Q, Wu G, et al. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA[J]. Nucleic Acids Res, 2013,41(2):1294-1306.
[18] Pereira G, Dória S. X-chromosome inactivation:Implications in human disease[J]. J Genet, 2021(100):63.