Research on DDX3X gene functionality and mutations has accelerated drastically over the last years. Below is a listing of all the DDX3X papers published to date:
Cheng, W. et al. CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation. Neuron 0, (2019).
Chan, C.-H., Chen, C.-M., Lee, Y.-H. W. & You, L.-R. DNA Damage, Liver Injury, and Tumorigenesis: Consequences of DDX3X Loss. Mol. Cancer Res. 17, 555–566 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am. J. Hum. Genet. 105, 302–316 (2019).
Beal, B. et al. Expansion of phenotype of DDX3X syndrome. Clin. Dysmorphol. 28, 169–174 (2019).
Scala, M. et al. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. Eur. J. Hum. Genet. (2019) doi:10.1038/s41431-019-0392-7.
MATSUMURA, T., ENDO, T., ISOTANI, A., OGAWA, M. & IKAWA, M. An azoospermic factor gene, <i>Ddx3y</i> and its paralog, <i>Ddx3x</i> are dispensable in germ cells for male fertility. J. Reprod. Dev. 65, 121–128 (2019).
Riva, V. & Maga, G. From the magic bullet to the magic target: exploiting the diverse roles of DDX3X in viral infections and tumorigenesis. Future Med. Chem. fmc-2018-0451 (2019) doi:10.4155/fmc-2018-0451.
Winham, S. J. et al. Molecular signatures of X chromosome inactivation and associations with clinical outcomes in epithelial ovarian cancer.
Nicola, P. et al. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am. J. Med. Genet. Part A 179, 570–578 (2019).
Chanes, N. M., Wong, J. & Lacassie, Y. Further delineation of DDX3X syndrome. Clin. Dysmorphol. 1 (2019)
Rao, J. et al. Genomic profiling of plasma circulating tumor DNA reveals genetics and residual disease in extranodal NK/T-cell lymphoma. bioRxiv 800409 (2019) doi:10.1101/800409.
Heyne, H. O. et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. bioRxiv 602524 (2019) doi:10.1101/602524.
Calviello, L. et al. DDX3 depletion selectively represses translation of structured mRNAs. bioRxiv 589218 (2019) doi:10.1101/589218.
Perfetto, M., Xu, X., Yousaf, N., Li, J. & Wei, S. The RNA helicase DDX3 induces neural crest by promoting AKT activity. bioRxiv 785428 (2019) doi:10.1101/785428.
Dolde, C. et al. A CK1 FRET biosensor reveals that DDX3X is an essential activator of CK1ε. J. Cell Sci. 131, jcs207316 (2018).
Kellaris, G. et al. A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. Hum. Genomics 12, 11 (2018).
Szappanos, D. et al. The RNA helicase DDX3X is an essential mediator of innate antimicrobial immunity. PLOS Pathog. 14, e1007397 (2018).
Wang, X. et al. Phenotypic expansion in DDX3X – a common cause of intellectual disability in females. Ann. Clin. Transl. Neurol. 5, 1277–1285 (2018).
Ray, P. et al. Transcriptome analysis of the human tibial nerve identifies sexually dimorphic expression of genes involved in pain, inflammation and neuro-immunity. bioRxiv 450197 (2018) doi:10.1101/450197.
Ruzzo, E. K. et al. Whole genome sequencing in multiplex families reveals novel inherited and de novo genetic risk in autism. bioRxiv 338855 (2018) doi:10.1101/338855.
Garieri, M. et al. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts. bioRxiv 298984 (2018) doi:10.1101/298984.
Lennox, A. L. et al. Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. bioRxiv 317974 (2018) doi:10.1101/317974.
Liu, K. et al. Ddx3x regulates B-cell development and light chain recombination in mice. bioRxiv 452086 (2018) doi:10.1101/452086.
Dunford, A. et al. Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias. Nat. Genet. 49, 10–16 (2017).
Sharma, D., Putnam, A. A. & Jankowsky, E. Biochemical Differences and Similarities between the DEAD-Box Helicase Orthologs DDX3X and Ded1p. J. Mol. Biol. 429, 3730–3742 (2017).
Dikow, N. et al. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am. J. Med. Genet. Part A 173, 1369–1373 (2017).
Fieremans, N. et al. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum. Mutat. 37, 804–811 (2016).
Chen, C.-Y. et al. Targeted inactivation of murine Ddx3x : essential roles of Ddx3x in placentation and embryogenesis. Hum. Mol. Genet. 25, ddw143 (2016).
Chen, H.-H., Yu, H.-I. & Tarn, W.-Y. DDX3 Modulates Neurite Development via Translationally Activating an RNA Regulon Involved in Rac1 Activation. J. Neurosci. 36, 9792–9804 (2016).
Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223–228 (2015).
Snijders Blok, L. et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am. J. Hum. Genet. 97, 343–352 (2015).