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| References | Diseases | Study aim | Research contribution |
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| [95] | Different types of human cancer | Bioinformatics analysis has been applied on ∼1500 microarray gene expression profiles representing 21 main human cancer types. | DEFA4 was reported as one of the 46 genes identified as a common cancer signature. |
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| [97] | Oral leukoplakia | The transcript levels of oncogenes, and genes involved in inflammation, and antimicrobial activity were measured in leukoplakia biopsies (n = 20) compared with healthy gingiva biopsies (n = 20). | DEFA4 gene expression was observed to be increased (179.2-fold) in oral leukoplakia compared with healthy gingiva, suggesting that DEFA4 up-regulation may play a role in malignant transformation. |
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| [96] | Salivary glands tumors | To determine new genes associated with proliferation in salivary glands tumors. Gene expression of (DEFA1, 2, 3, 4) was assessed in different types of salivary glands tumors and inflamed salivary gland tissues compared with healthy tissues (n = 10 each). | DEFA4 showed up-regulation gene expression in all salivary gland tumors subsets as well as inflamed salivary gland tissues, but a significant down-regulation in pleomorphic adenomas (benign mixed tumor). |
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| [99] | Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) | The transcriptional profiling study was conducted to investigate gene expression of interferon-associated genes using blood samples from patients with different phenotypes of MPNs: ET (n = 19), PV (n = 41), and PMF (n = 9) compared with controls (n = 21). | DEFA4 was one of the top ten up-regulated genes in patients with PMF compared with controls. |
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| [100] | Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) | To identify the gene signature that may indicate the transitional stage towards myelofibrosis and/or aggressive clinical phenotype, blood transcriptional profiling and hierarchical cluster analysis have been performed in patients with ET (n = 19), PV (n = 41), and PMF (n = 9), compared with controls (n = 21). | -DEFA4 was one of the top 20 up-regulated genes that were highly significantly deregulated only in PMF.
DEFA4 was one of the five distinct gene signatures that can indicate the transition of the diseases from ET and PV towards myelofibrosis or aggressive phenotype. |
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