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  1. 194581
    “…USP16 is a histone deubiquitinase which facilitates G2/M transition during the cell cycle, regulates DNA damage repair and contributes to inducible gene expression. We mutated the USP16 gene in a high differentiation clone of the acute monocytic leukemia cell line THP-1 using the CRISPR-Cas9 system and generated four homozygous knockout clones. …”
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    CRISPR-Cas9 Editing of Human Histone Deubiquitinase Gene USP16 in Human Monocytic Leukemia Cell Line THP-1
  2. 194582
    “…Overall survival stratification of PSCC patients were found to be significantly correlated with mutations of three genes, including PIK3CA (Hazard ratio [HR] = 4.15, p = 0.029), CHD7 (HR = 4.82, p = 0.032) and LAMC3 (HR = 15.9, p < 0.001). …”
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    Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma
  3. 194583
    “…Gene expression may be altered through disruptions at the breakpoints and the accumulation of mutations due to suppressed recombination. We used quantitative PCR to measure expression of 11 candidate inversion genes across three different tissues (liver, adrenal glands and gonads) and tested for allelic imbalance in four inversion genes across 12 males of all three morphs (8 Independents, 2 Satellites, 2 Faeders). …”
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    Gene Expression Modification by an Autosomal Inversion Associated With Three Male Mating Morphs
  4. 194584
    “…BACKGROUND: Several reports on the discovery of SARS-CoV-2 mutations and variations in Indonesia COVID-19 cases led to genomic dysregulation with the first pandemic cases in Wuhan, China. …”
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    Comparative study of predicted miRNA between Indonesia and China (Wuhan) SARS-CoV-2: a bioinformatics analysis
  5. 194585
    “…Amongst 132 afatinib-treated patients who underwent tumour genetic analysis, ERBB family mutations were more common in patients with long-term benefit than in the overall population (50% vs 21%). …”
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    Afatinib versus erlotinib as second-line treatment of patients with advanced squamous cell carcinoma of the lung: Final analysis of the randomised phase 3 LUX-Lung 8 trial
  6. 194586
    “…SIMPLE SUMMARY: Cystic fibrosis (CF) is the most common lethal hereditary disease in Caucasians, causing mainly respiratory and gastrointestinal symptoms. In CF, mutations in the gene encoding an epithelial anion channel cause impaired bicarbonate secretion, which contributes to the formation of thick mucus in the airways. …”
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    Bicarbonate Evokes Reciprocal Changes in Intracellular Cyclic di-GMP and Cyclic AMP Levels in Pseudomonas aeruginosa
  7. 194587
    “…Homology modeling and mutational analyses revealed binding sites for the sugar donor and the diacylglycerol lipid acceptor, which provided insights into the retaining mechanism of GT(cp) with its GT-B fold. …”
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    A Glycolipid Glycosyltransferase with Broad Substrate Specificity from the Marine Bacterium “Candidatus Pelagibacter sp.” Strain HTCC7211
  8. 194588
    “…While the association of biallelic mutations in NLRP7 with recurrent HM is well established, its role in the development and the immune tolerance of CC was unknown. …”
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    NLRP7 Promotes Choriocarcinoma Growth and Progression through the Establishment of an Immunosuppressive Microenvironment
  9. 194589
    “…With the advent of ultrasensitive technologies during the last decade, the identification of actionable genetic alterations (i.e., mutations) in LB is a common practice to decide whether or not targeted therapy should be applied. …”
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    Cancer Epigenetic Biomarkers in Liquid Biopsy for High Incidence Malignancies
  10. 194590
    “…Niemann–Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes. …”
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    Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1
  11. 194591
    “…MO can also be a result of direct trauma or even genetic mutations. CASE REPORT: We present three cases of young men (16, 37, and 22-year-old) who developed MO of the hip joint following brain or spinal cord injuries. …”
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    The Surgical Management of the Rare Neurogenic Myositis Ossificans of the Hip: A Report of 3 Cases
  12. 194592
    “…Geospatial technology was used to combine and analyze genetic counselor locations and cancer incidence at the county level across the US, with a particular focus on tumors associated with BRCA mutations including ovarian, pancreatic, prostate and breast. …”
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    Disparity in Access to Oncology Precision Care: A Geospatial Analysis of Driving Distances to Genetic Counselors in the U.S.
  13. 194593
    “…Preclinical studies have shown synergistic effects when combining PARP1/2 inhibitors and platinum drugs in BRCA1/2 mutated cancer cell models. After a formulation change of olaparib from capsules to tablets, we initiated a dose finding study of olaparib tablets bidaily (BID) continuously with carboplatin to prepare comparative studies in this patient group. …”
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    A Phase I dose‐escalation study of two cycles carboplatin‐olaparib followed by olaparib monotherapy in patients with advanced cancer
  14. 194594
    “…Seventeen hematologic relapses occurred (median 7 months; range, 3-40.1): 13 during consolidation and four post-transplant. ABL1 mutations (five T315I, three V299L, one E281K and one G254E) were found in ten of 13 relapsed cases. …”
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    A multicenter total therapy strategy for de novo adult Philadelphia chromosome positive acute lymphoblastic leukemia patients: final results of the GIMEMA LAL1509 protocol
  15. 194595
    “…MTs are abundant in chemoresistant gliomas, in particular glioblastomas, while they are uncommon in chemosensitive IDH mutated and 1p/19q co-deleted oligodendrogliomas. …”
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    OTME-14. TGF-beta signaling in microtube formation of glioblastoma
  16. 194596
    “…Recent technical advances have improved our understanding of the mutational burden of cancer cells and changes in cancer-specific gene expression, providing a detailed understanding of the complex biology underpinning tumor-host interactions. …”
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    How to Better Understand the Influence of Host Genetics on Developing an Effective Immune Response to Thoracic Cancers
  17. 194597
    “…Expression assays revealed an overexpression of the phoP, phoQ, and pmrD genes in the mgrB-mutated isolate KP1-2 compared to the wild-type isolate KP1-1, confirming the MgrB alterations was responsible for increased expression levels of those genes. …”
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    In vivo Emergence of Colistin Resistance in Carbapenem-Resistant Klebsiella pneumoniae Mediated by Premature Termination of the mgrB Gene Regulator
  18. 194598
    “…The discovery of targeted therapies against activating mutations in genes like EGFR considerably improved the prognosis for a subgroup of patients but still leaves a large part without a targeted therapy. …”
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    One carbon metabolism in human lung cancer
  19. 194599
    “…In addition, pathogens often prove to be moving, evolving targets and can accumulate mutations that will lead to inefficient primer binding and thus false-negative results. …”
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    High-Surety Isothermal Amplification and Detection of SARS-CoV-2
  20. 194600
    “…Pyrosequencing (PSQ) is a novel, real-time DNA sequencing for rapid detection of mutations associated with M/XDR-TB. We aimed to systematically synthesize the evidence on the diagnostic accuracy of PSQ for M/XDR-TB. …”
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    Pyrosequencing for diagnosis of multidrug and extensively drug-resistant tuberculosis: A systemic review and meta-analysis
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