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  1. 196901
    “…CONCLUSIONS: Our study identified miR-223-3p, as a tumor suppressor gene, markedly inhibited cell proliferation and migration via miR-223-3p-mutant p53 feedback loop, which suggested miR-223-3p might be a new therapeutic target in LSCC bearing p53 mutations. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13046-019-1079-1) contains supplementary material, which is available to authorized users.…”
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    MiR-223-3p functions as a tumor suppressor in lung squamous cell carcinoma by miR-223-3p-mutant p53 regulatory feedback loop
  2. 196902
    “…These changes resulting from over-expressing miR-451a were reversed by over-expressing BAP31 with mutated miR-451a-binding sites. Over-expressing miR-451a or silencing BAP31 inhibited tumor growth by inducing ERS. …”
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    MiR-451a suppressing BAP31 can inhibit proliferation and increase apoptosis through inducing ER stress in colorectal cancer
  3. 196903
    “…These markers may be used to complement patient assessment, in combination with PD-L1 status, tumor-infiltrating lymphocytes and tumor mutational burden, with the aim to predict outcome of CI treatment in patients with metastatic melanoma. …”
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    Antibodies as biomarker candidates for response and survival to checkpoint inhibitors in melanoma patients
  4. 196904
    “…Choline kinase β (Chk β) is important for adult muscle homeostasis, as autosomal recessive mutations in CHKβ are associated with two human muscle diseases, megaconial congenital muscular dystrophy and proximal myopathy with focal depletion of mitochondria. …”
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    Late-onset megaconial myopathy in mice lacking group I Paks
  5. 196905
    “…CONCLUSIONS: We conclude that prdm12b germline mutations produce a phenotype that is indistinguishable from that of morpholino-mediated loss of prdm12 function. …”
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    Zebrafish prdm12b acts independently of nkx6.1 repression to promote eng1b expression in the neural tube p1 domain
  6. 196906
    por Hu, Hong, Dai, Sifa, Wen, Aiyou, Bai, Xi
    Publicado 2019
    “…Approximately 180 target mutations were successfully introduced into natural XynB. …”
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    Efficient Expression of Xylanase by Codon Optimization and Its Effects on the Growth Performance and Carcass Characteristics of Broiler
  7. 196907
    “…Interestingly, DNA analysis and RNA-seq analysis showed that KM-100d yeasts’ ethanol tolerance improvement was not due to ploidy change or meaningful mutations, but founded on transcriptional reprogramming in a genome-wide range. …”
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    Kluyveromyces marxianus developing ethanol tolerance during adaptive evolution with significant improvements of multiple pathways
  8. 196908
    “…The presence of sequence divergence through adaptive mutations in the major capsid protein VP1, and also in VP0 (VP4 and VP2) and VP3, of foot-and-mouth disease virus (FMDV) is relevant to a broad range of viral characteristics. …”
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    Engineering Responses to Amino Acid Substitutions in the VP0- and VP3-Coding Regions of PanAsia-1 Strains of Foot-and-Mouth Disease Virus Serotype O
  9. 196909
    “…Additional evaluation on the influence of NF1 gene mutations identified in patients undergoing hereditary cancer genetic testing on breast cancer risk in individuals without clinical evidence of NF1 is needed. …”
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    Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
  10. 196910
    “…Here we investigated the effects of expressing human tau repeat domain (tauRD) with pro- or anti-aggregant mutations in regulatable transgenic mouse models of Alzheimer’s Disease on the functional neuronal networks and the structural connectivity strength. …”
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    Functional networks are impaired by elevated tau-protein but reversible in a regulatable Alzheimer’s disease mouse model
  11. 196911
    “…Discontinuation of eculizumab, with careful monitoring, is an option in select patients with consideration of patient preference, organ function normalization, and risk factors for relapse, including mutational analysis, age of onset, and history of multiple TMA episodes. …”
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    Outcomes in patients with atypical hemolytic uremic syndrome treated with eculizumab in a long-term observational study
  12. 196912
    “…High ERBB2 incidence and copy number gains were observed in gastric and colorectal cancer patients, often in the absence of other oncogenic mutations, underscoring its likely role as the driver alteration in those settings. …”
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    Detection of ERBB2 (HER2) Gene Amplification Events in Cell-Free DNA and Response to Anti-HER2 Agents in a Large Asian Cancer Patient Cohort
  13. 196913
    “…Blasts in BMAs from patients who had TP53‐mutated AML were more frequently positive for PD‐L1. …”
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    The distribution of T‐cell subsets and the expression of immune checkpoint receptors and ligands in patients with newly diagnosed and relapsed acute myeloid leukemia
  14. 196914
    “…METHODS: We here present novel DNA methylation data of an LGG-cohort collected in the German Glioma Network containing about 85% isocitrate dehydrogenase (IDH) mutated tumors and performed a combined bioinformatics analysis using patient-matched genome and transcriptome data. …”
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    DNA methylation, transcriptome and genetic copy number signatures of diffuse cerebral WHO grade II/III gliomas resolve cancer heterogeneity and development
  15. 196915
    “…Lid domains modulate enzyme activities, substrate specificities, and stabilities which have been shown by protein engineering and mutational analyses. Here, we report engineering of an uncharacterized monoacylglycerol lipase (TON-LPL) from an archaeon Thermococcus onnurineus (strain NA1) into a triacylglycerol lipase (rc-TGL) by replacing its 61 N-terminus amino acid residues with 118 residues carrying lid domain of a thermophilic fungal lipase—Thermomyces lanuginosus (TLIP). …”
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    N-terminal domain replacement changes an archaeal monoacylglycerol lipase into a triacylglycerol lipase
  16. 196916
    “…The majority of genes generate GenePy scores < 0.01 although individuals harbouring multiple rare highly deleterious mutations can accumulate extremely high GenePy scores. …”
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    GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data
  17. 196917
    “…In the absence of triiodothyronine (T3), TRα interacts with co-repressors, including nuclear receptor co-repressor-1 (NCoR1), which recruit histone deacetylases (HDACs) and mediate transcriptional repression. Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia. …”
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    Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha
  18. 196918
    “…A total of 21 mutant colonies, including 11 MC3R(−/−) and 10 MC3R(+/−) clones, were obtained, corresponding to a gene targeting efficiency of 29.17%, with 15.28% biallelic mutations. A total of 6 piglets were born, and only two MC3R KO piglets were generated, one with malformations and a healthy one. …”
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    Generation of an MC3R knock-out pig by CRSPR/Cas9 combined with somatic cell nuclear transfer (SCNT) technology
  19. 196919
    “…Right-sided CRC patients (n = 59) more often had positive primary tumour lymph-nodes (76.3%/61.3%;p = 0.043) and RAS-mutations (60%/34.9%;p = 0.036). The median overall and disease-free survival was 33.5 and 9.1 months in right-sided versus 55.5 (p = 0.051) and 12.1 months (p = 0.078) in left-sided patients. …”
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    Primary tumour location affects survival after resection of colorectal liver metastases: A two-institutional cohort study with international validation, systematic meta-analysis and a clinical risk score
  20. 196920
    “…We undertook studies to elucidate the mechanism by which aggrecan loss-of-function mutations lead to impaired long bone growth in concert with bone age acceleration. …”
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    MON-262 Aggrecan Is Required for Chondrocyte Differentiation in ATDC5 Chondroprogenitor Cells
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