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  1. 195141
    “…Background: The minor allele (C) of the single-nucleotide polymorphism (SNP) rs11212617, located near the ataxia telangiectasia mutated (ATM) gene, has been associated with an increased likelihood of treatment success with metformin in type 2 diabetes. …”
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    The C Allele of ATM rs11212617 Associates With Higher Pathological Complete Remission Rate in Breast Cancer Patients Treated With Neoadjuvant Metformin
  2. 195142
    “…We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. …”
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    Diagnostic implications of genetic copy number variation in epilepsy plus
  3. 195143
    “…HCT116, SW620 and DLD1 cells, cell lines with distinct mutations, grade and origin, were co-cultured with fibroblasts and endothelial cells (EC) in 3D spheroids. …”
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    Short-term 3D culture systems of various complexity for treatment optimization of colorectal carcinoma
  4. 195144
    “…T-cells specific against two mutated cancer-associated genes, NUP214 and JAK1, recognized autologous tumors. …”
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    Efficient identification of neoantigen-specific T-cell responses in advanced human ovarian cancer
  5. 195145
    “…These findings indicate that the R genes from TDs adopted tandem duplications to evolve faster and accumulate more mutations to facilitate functional innovation to cope with variable threats from a fluctuating environment, while R singletons provide a way for R genes to maintain sequence stability and retain conservation of function.…”
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    Comparative Genomics Analysis in Grass Species Reveals Two Distinct Evolutionary Strategies Adopted by R Genes
  6. 195146
    “…The antimalarial drug chloroquine activates the kinase ataxia telangiectasia mutated (ATM), improves metabolic syndrome and reduces atherosclerosis in mice. …”
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    Low dose chloroquine decreases insulin resistance in human metabolic syndrome but does not reduce carotid intima-media thickness
  7. 195147
    “…The markers of DNA damage response (DDR) – ataxia telangiectasia mutated (ATM) pSer1981, H2AX pSer139 (γH2AX), Chk2 pThr68 and P53 – were analyzed by immunohistochemistry. …”
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    HPV infection associated DNA damage correlated with cervical precancerous lesions and cancer in the highest area of cervical cancer mortality, Longnan, China
  8. 195148
    “…In comparison, GS provided a twofold increase in diagnostic yield (32.0%, 16/50), including one mosaic turner syndrome, eight cases with microdeletions/microduplications, and seven cases with P/LP point mutations. Moreover, GS identified two cryptic insertions and two inversions. …”
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    Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
  9. 195149
    “…Among the 6 HER2-positive CRCs, KRAS and PIK3CA mutations were detected in 1 (17%; G13D) and 2 (33.3%; 1 Q546R and 1 H1047R) patients, respectively. …”
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    Comprehensive assessment of HER2 alteration in a colorectal cancer cohort: from next-generation sequencing to clinical significance
  10. 195150
    “…BACKGROUND: Vulvar squamous cell carcinoma (VSCC) has been suggested to consist of three subtypes; HPV-positive, HPV-negative mutated TP53 or HPV-negative TP53 wildtype, with different clinical courses. …”
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    High numbers of activated helper T cells are associated with better clinical outcome in early stage vulvar cancer, irrespective of HPV or p53 status
  11. 195151
    “…BACKGROUND: Targeted therapy is an important treatment for advanced non-small cell lung cancer (NSCLC) patients with specific genetic mutations, crizotinib can prolong survival in advanced NSCLC patients with echinoderm microtubule-associated protein-like 4–anaplastic lymphoma kinase (EML4-ALK) rearrangement. …”
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    Elevated levels of pre-treatment lactate dehydrogenase are an unfavorable predictor factor in patients with EML4-ALK rearrangement non-small cell lung cancer treated with crizotinib
  12. 195152
    “…Our computational structural biology approach based on 3D model structure of the CaCC showed that individual amino acid replacements may affect channel shape, stability, activation, gating, selectivity and throughput, and possibly also other features, depending on where the individual mutated amino acid residues are located in the tertiary structure of BEST1. …”
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    Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology
  13. 195153
    “…However, higher fractions and levels of RNA were found in cells with proviruses containing multiple drug resistance mutations, including those contributing to rebound viremia. …”
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    HIV Infected T Cells Can Proliferate in vivo Without Inducing Expression of the Integrated Provirus
  14. 195154
    “…BACKGROUND: BRAF V600E mutations are associated with aggressive biology and limited response to standard chemotherapy, especially during second-line and beyond therapies. …”
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    Rationale and design of the BRAVERY study (EPOC1701): a multicentre phase II study of eribulin in patients with BRAF V600E mutant metastatic colorectal cancer
  15. 195155
    “…WNT signaling activation in colorectal cancers (CRCs) occurs through APC inactivation or β-catenin mutations. Both processes promote β-catenin nuclear accumulation, which up-regulates epithelial-to-mesenchymal transition (EMT). …”
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    β-catenin activation down-regulates cell-cell junction-related genes and induces epithelial-to-mesenchymal transition in colorectal cancers
  16. 195156
    “…RESULTS: Here, we designed four gRNAs to mutate four LATE ELONGATED HYPOCOTYL (LHY) genes in soybean. …”
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    CRISPR/Cas9-mediated targeted mutagenesis of GmLHY genes alters plant height and internode length in soybean
  17. 195157
    “…Specific MEK inhibitors such as trametinib are now available and have been approved for other cancers harboring mutations in the MAPK/ERK pathway such as melanoma. …”
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    A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01
  18. 195158
    “…Three-dimensional structures of PvLDH and PfLDH were built with YASARA Structure ver. 18.4.24 and the impact of mutations on structural change and stability was evaluated with SDM ver. 2, CUPSAT and MAESTROweb. …”
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    Genetic diversity of Plasmodium vivax and Plasmodium falciparum lactate dehydrogenases in Myanmar isolates
  19. 195159
    “…The minor monomeric unit, 3‐hydroxyhexanoic acid, tested negative for bacterial gene mutations. Degradation products, which may be present in the (co)polymer, are crotonic acid and (E)‐2‐hexenoic acid. …”
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    SUPERSEDED: Safety assessment of the substance poly((R)‐3‐hydroxybutyrate‐co‐(R)‐3‐hydroxyhexanoate) for use in food contact materials
  20. 195160
    “…We examined demographic associations among linked individuals with shared drug resistance mutations (DRMs) using a ≥ 2% threshold to include low-frequency variants. …”
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    Pretreatment HIV drug resistance spread within transmission clusters in Mexico City
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