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  1. 195921
    “…Future surveillance on viral mutations would be necessary to reveal the evolutionary history of respiratory viruses.…”
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    Prevalence of Common Respiratory Viral Infections and Identification of Adenovirus in Hospitalized Adults in Harbin, China 2014 to 2017
  2. 195922
    “…BACKGROUND: TP53 mutations in cancer cells often evoke cell invasiveness, whereas fibroblasts show invasiveness in the presence of intact TP53. …”
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    Epithelial-specific histone modification of the miR-96/182 locus targeting AMAP1 mRNA predisposes p53 to suppress cell invasion in epithelial cells
  3. 195923
    “…Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, located on chromosome 4 (4q35). …”
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    Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
  4. 195924
    “…Mutations in the GJB2 gene (which encodes Connexin26 (Cx26)) account for about a quarter of all cases of non-syndromic deafness. …”
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    The spatial distribution pattern of Connexin26 expression in supporting cells and its role in outer hair cell survival
  5. 195925
    “…Thirteen of the mutants sequenced from this screen had coding mutations in five kinases, including the histidine kinases Ylchk1 and Ylnik1 and kinases of the high-osmolarity glycerol response (HOG) mitogen-activated protein (MAP) kinase cascade Ylssk2, Ylpbs2, and Ylhog1. …”
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    Regulation of Yeast-to-Hyphae Transition in Yarrowia lipolytica
  6. 195926
    “…In contrast, Pseudomonas phenotypic resistance was associated with the presence of mutations in the oprD gene. Notably, inherent carbapenem-resistant isolates of S. maltophilia were also resistant to the first-line recommended chemotherapeutic trimethoprim/sulfamethoxazole. …”
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    Hospitalized Pets as a Source of Carbapenem-Resistance
  7. 195927
    “…BACKGROUND: Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both for diagnostics and research purposes. …”
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    VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
  8. 195928
    “…FAM201A knockdown enhanced the radiosensitivity of ECA109/ECA109R cells by upregulating ataxia telangiectasia mutated (ATM) and mammalian target of rapamycin (mTOR) expression via the negative regulation of miR-101 expression. …”
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    Long Noncoding RNA FAM201A Mediates the Radiosensitivity of Esophageal Squamous Cell Cancer by Regulating ATM and mTOR Expression via miR-101
  9. 195929
    “…Here, we repopulated livers of DPPIV(−) (dipeptidyl peptidase‐4) rats and Ugt1a1 (uridinediphosphoglucuronate glucuronosyltransferase 1a1)‐deficient Gunn rats (model of Crigler‐Najjar syndrome type 1), both models without underlying liver injury, for up to 1 year by transplanting lenti‐hYAP‐ERT2 (mutated estrogen receptor ligand‐binding domain 2)‐transduced hepatocytes (YAP‐Hc). …”
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    Genes and Pathways Promoting Long‐Term Liver Repopulation by Ex Vivo hYAP‐ERT2 Transduced Hepatocytes and Treatment of Jaundice in Gunn Rats
  10. 195930
    “…In this strain overflow metabolism to by-products acetoin and acetate had been blocked by mutations, however pyruvate accumulated as an overflow metabolite. …”
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    Combinatorial pathway enzyme engineering and host engineering overcomes pyruvate overflow and enhances overproduction of N-acetylglucosamine in Bacillus subtilis
  11. 195931
    “…The 38 target genes have been shown for miR-146a-5p of which NRAS gene is known asone of the most frequent mutated in melanoma. CONCLUSIONS: Elucidation of the role of miR-146-a-5p in complex interactions between the tumor and the cells of healthy adjacent skin is necessary for our understanding of the mechanisms oftumor progression. …”
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    Differences in microRNA expression between melanoma and healthy adjacent skin
  12. 195932
    “…Then, the characteristics between the parental and mouse-adapted H7N9 viruses was compared in the following aspects, including virulence in mice, tropism of different tissues, replication in MDCK cells and molecular mutations. RESULTS: After ten passages in mice, MLD(50) of the H7N9 viruses reduced >750-3,160,000 folds, and virus titers in MDCK cells increased 10-200 folds at 48 hours post-inoculation. …”
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    Multiple amino acid substitutions involved in the adaption of three avian-origin H7N9 influenza viruses in mice
  13. 195933
    “…METHODS: In order to determine the effects of PDPN on malignant features of BcPAP cells (harboring the BRAFV600E mutated allele) and TPC1 cells (carrying the RET/PTC1 rearrangement), we silenced PDPN in these cells using small interfering RNA (siRNA). …”
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    Podoplanin (PDPN) affects the invasiveness of thyroid carcinoma cells by inducing ezrin, radixin and moesin (E/R/M) phosphorylation in association with matrix metalloproteinases
  14. 195934
    “…CONCLUSIONS: These findings support the hypothesis that genetic programs controlling axial MN development are deeply conserved across species, and further advance our understanding of such programs by revealing an essential role for Ebf2 in mouse axial MNs. Because human mutations in COE orthologs lead to neurodevelopmental disorders characterized by motor developmental delay, our findings may advance our understanding of these human conditions. …”
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    An ancient role for collier/Olf/Ebf (COE)-type transcription factors in axial motor neuron development
  15. 195935
    “…METHODS: Consecutive histological sections of four tumors covering the entire en bloc-removed tumor were immunostained with antibodies against IDH1-mutated protein (tumor cells), Ki67 (proliferating cells), and CD34 (blood vessels). …”
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    Region-by-region analysis of PET, MRI, and histology in en bloc-resected oligodendrogliomas reveals intra-tumoral heterogeneity
  16. 195936
    “…The sseK2, sseK3 and slrP genes were either absent or showing frameshift mutations in a significant proportion of genomes from environmental diarizonae isolates. …”
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    Genome analysis of Salmonella enterica subsp. diarizonae isolates from invasive human infections reveals enrichment of virulence-related functions in lineage ST1256
  17. 195937
    “…The development of inhibitors targeting mutated BRAF (found in around 60% of melanoma patients) has markedly improved overall survival of patients with late-stage tumors, even more so when combined with MEK inhibitors targeting the same signaling pathway. …”
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    Kinase inhibitor library screening identifies synergistic drug combinations effective in sensitive and resistant melanoma cells
  18. 195938
    “…Furthermore, we verified that dead mutations of PRMT5 or PRMT1 have the same effects on CFLAR(L) as the wild-type ones have, suggesting it is the physical interaction between CFLAR and PRMT1/5 that regulates CFLAR(L) degradation other than its enzymatic activity. …”
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    The arginine methyltransferase PRMT5 and PRMT1 distinctly regulate the degradation of anti-apoptotic protein CFLAR(L) in human lung cancer cells
  19. 195939
    “…While investigating the relevance of these target genes, different mutations of them were found in breast cancer patients. …”
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    Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival
  20. 195940
    “…The SNP adjacent to DICER1 also showed osteoblast cis‐regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. …”
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    Identification of Novel Loci Associated With Hip Shape: A Meta‐Analysis of Genomewide Association Studies
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