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  1. 195661
    “…We also demonstrated that BTV8(H) acquired an increased affinity for glycosaminoglycan receptors during passaging in cell culture due to mutations in its VP2 protein. Replication of BTV8(H) was relatively poor in interferon (IFN)-competent primary ovine endothelial cells compared to replication of BTV8(L), and this phenotype was determined by several viral genomic segments, including Seg4 and Seg9. …”
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    Multiple Genome Segments Determine Virulence of Bluetongue Virus Serotype 8
  2. 195662
    “…In eight E. coli isolates the AmpC phenotype was caused by mutations in the AmpC promoter region. No carbapenemase genes were identified. …”
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    Molecular Characteristics of Extended-Spectrum Cephalosporin-Resistant Enterobacteriaceae from Humans in the Community
  3. 195663
    “…BACKGROUND: Mutations in the gene encoding ryanodine receptor type-1 (RYR1), the calcium ion (Ca(2+)) release channel in the sarcoplasmic reticulum (SR) of skeletal muscle, are linked to central core disease (CCD) and malignant hyperthermia (MH) susceptibility. …”
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    Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice
  4. 195664
    “…The genetic data suggest substantial differentiation between the two species as species-specific alleles are separated by at least 7–28 mutations. The natural hybrids found were nearly all F1s (21 of 23), but backcrosses were detected, and some individuals, morphologically indistinguishable from the parental species, showed introgression. …”
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    Natural hybridization and asymmetric introgression at the distribution margin of two Buddleja species with a large overlap
  5. 195665
    “…BACKGROUND: Cytogenomic mutations and chromosomal abnormality are implicated in the neuropathology of several brain diseases. …”
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    Assessment of copy number variations in the brain genome of schizophrenia patients
  6. 195666
    “…To identify mechanisms of LA resistance, we generated in vitro a mutant HIV-1 NL4.3(LAresistant) virus, which acquired seven mutations in the HIV-1 envelope glycoproteins: S160N, V170N, Q280H and R389T in gp120 and K77Q, N113D and H132Y in gp41. …”
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    The Low-Cost Compound Lignosulfonic Acid (LA) Exhibits Broad-Spectrum Anti-HIV and Anti-HSV Activity and Has Potential for Microbicidal Applications
  7. 195667
    “…BACKGROUND: (V600)BRAF mutations drive approximately 50% of metastatic melanoma which can be therapeutically targeted by BRAF inhibitors (BRAFi) and, based on resistance mechanisms, the combination of BRAF and MEK inhibitors (BRAFi + MEKi). …”
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    Vemurafenib resistance reprograms melanoma cells towards glutamine dependence
  8. 195668
    “…METHODS: Skeletal muscle and myogenic C2C12 cells were used to study the effects of MSY3 phosphorylation in vivo and in vitro on its sub-cellular localization and activity, by blocking the IGF1/PI3K/Akt pathway, by Akt depletion and over-expression, and by mutating potential MSY3 phosphorylation sites. RESULTS: We observed that, as skeletal muscle progressed from perinatal to postnatal and adult developmental stages, MSY3 protein became gradually dephosphorylated and accumulated in the nucleus. …”
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    Akt-mediated phosphorylation controls the activity of the Y-box protein MSY3 in skeletal muscle
  9. 195669
    “…BACKGROUND: Elevated basal, ligand-independent, Wnt signaling in some canine breast cancer cells is not caused by classical mutations in APC, β-Catenin or GSK3β but, at least partially, by enhanced LEF1 expression. …”
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    High basal Wnt signaling is further induced by PI3K/mTor inhibition but sensitive to cSRC inhibition in mammary carcinoma cell lines with HER2/3 overexpression
  10. 195670
    “…The primary rectal cancer and the matched metastases (hepatic, pulmonary and lymph nodal) demonstrated no KRAS, NRAS, BRAF and PIK3CA mutations, a microsatellite stable phenotype, and no tumor protein p53 alterations or recurrent copy number alterations on chromosome 8. …”
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    Durable recurrence-free survival after pneumonectomy for late lung metastasis from rectal cancer: case report with genetic and epigenetic analyses
  11. 195671
    “…Asparagines in two potential Asn-linked glycosylation sites (Asn160 and Asn355) from pro-TGase were mutated to glutamine individually or simultaneously, yielding the deglycosylated variants N160Q, N355Q, and N160Q/N355Q. …”
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    Overproduction of pro-transglutaminase from Streptomyces hygroscopicus in Yarrowia lipolytica and its biochemical characterization
  12. 195672
    “…None of the transporters recently identified as mutated in low acidity apples or Cucurbits were included in the several hundreds of candidate genes underlying the above berry QTLs, which could be reduced to a few dozen candidate genes when a priori pertinent biological functions and organ specific expression were considered. …”
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    Identification of stable QTLs for vegetative and reproductive traits in the microvine (Vitis vinifera L.) using the 18 K Infinium chip
  13. 195673
    “…Identification of sibling species and presence of the ace-1(R) and Leu-Phe kdr, resistance-associated mutations, were determined using polymerase chain reaction (PCR) technology. …”
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    Characterizing the insecticide resistance of Anopheles gambiae in Mali
  14. 195674
    “…CONCLUSIONS: The sex bias within neurodevelopmental disorders is influenced by the presence of specific comorbidities, specific CNVs, mutational burden, and pre-existing family history of neurodevelopmental phenotypes. …”
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    An assessment of sex bias in neurodevelopmental disorders
  15. 195675
    “…(Note: the large number of tubercle bacilli growing extracellularly in liquefied caseum gives rise to mutations that enable antimicrobial resistance—which is a major reason why TB still exists today). …”
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    Perspectives for Developing New Tuberculosis Vaccines Derived from the Pathogenesis of Tuberculosis: I. Basic Principles, II. Preclinical Testing, and III. Clinical Testing
  16. 195676
    “…RESULTS: The two primary cell cultures differ in global copy number alterations and P53 mutational status, thus reflecting heterogeneity of HNSCC. …”
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    Integrative analysis of the microRNA-mRNA response to radiochemotherapy in primary head and neck squamous cell carcinoma cells
  17. 195677
    “…The percentage of genomic alterations in these genes was ranked based on their mRNA expression, copy number variations and mutations. This data was further combined with published microarray studies from a large set of CRC tumors classified based on prognostic features. …”
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    Integrated transcriptional profiling and genomic analyses reveal RPN2 and HMGB1 as promising biomarkers in colorectal cancer
  18. 195678
    “…BACKGROUND: The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition. …”
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    Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process
  19. 195679
    “…Splicing-targeting therapy tries to ameliorate the disease by altering the exon combination of transcripts to reduce the undesired effect of genetic mutations. However, the knowledge and tools to understand factors contributing to splicing modulator compound sensitivity have been lacking. …”
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    Deciphering targeting rules of splicing modulator compounds: case of TG003
  20. 195680
    “…BACKGROUND: Synthetic lethality (SL) refers to the genetic interaction between two or more genes where only their co-alteration (e.g. by mutations, amplifications or deletions) results in cell death. …”
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    Inferring synthetic lethal interactions from mutual exclusivity of genetic events in cancer
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