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  1. 196961
    “…DAP resistance (DAP-R) in E. faecalis (Efs) has been linked to mutations in genes encoding the LiaFSR stress response system and lipid biosynthetic enzymes, including cardiolipin synthase (Cls). …”
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    602. Mechanism of LiaY-Mediated Daptomycin Resistance in Enterococcus faecalis
  2. 196962
    “…All three clinical strains had classic mutations (M485A and 466’S) important for high-level AMP-R. …”
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    615. Daptomycin (DAP) Synergy with β-Lactams in DAP-Resistant (DAP-R) E. faecium (Efm) Is Dependent On PBP5 Sequence and β-Lactam-binding Affinity
  3. 196963
    “…Genotype imputation is a powerful approach for WGS and to identify causal mutations. This study aimed to evaluate the imputation accuracy from genotyping-by-sequencing (GBS) to WGS in two pig breeds using a resequencing reference population and to detect single-nucleotide polymorphisms (SNPs) and candidate genes for farrowing interval (FI) of different parities using the data before and after imputation for GWAS. …”
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    GWAS on Imputed Whole-Genome Resequencing From Genotyping-by-Sequencing Data for Farrowing Interval of Different Parities in Pigs
  4. 196964
    “…Among the epigenetic players, the H3K27 methyltransferase (MT) EZH2 (enhancer of zeste homologue 2) has been found overexpressed or mutated in several human cancers including gliomas, and its overexpression is associated with poor outcome in GBM. …”
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    Dissecting the role of novel EZH2 inhibitors in primary glioblastoma cell cultures: effects on proliferation, epithelial-mesenchymal transition, migration, and on the pro-inflammatory phenotype
  5. 196965
    “…Single nucleotide polymorphisms (SNPs) within the GDF9 gene have been found to be involved in reproductive traits in livestock, and some of these mutations have been used as the effective makers in animal molecular breeding. …”
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    Genetic Effects of Single Nucleotide Polymorphisms in the Goat GDF9 Gene on Prolificacy: True or False Positive?
  6. 196966
    “…NPC is inherited in an autosomal recessive pattern from mutations in NPC1 or NPC2 genes. The etiology of NPC is poorly defined. …”
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    Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
  7. 196967
    “…The HBGA binding site of all known GII.14 strains remained conserved with several point mutations found in the predicted conformational epitopes. …”
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    Increasing Recombinant Strains Emerged in Norovirus Outbreaks in Jiangsu, China: 2015–2018
  8. 196968
    “…However, many of the identified proteins are difficult to target and thought to be “undrugable” because of structural challenges, protein overexpression, or mutations that confer resistance to therapy. A novel technology that circumvents some of these issues is the use of small molecules that stabilize secondary DNA structures present in the promoters of many potential oncogenes and modulate their transcription. …”
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    In vitro activity of a G-quadruplex-stabilizing small molecule that synergizes with Navitoclax to induce cytotoxicity in acute myeloid leukemia cells
  9. 196969
    “…However, only K-Ras-deficient mice but not H-Ras- and N-Ras-deficient mice show embryonic lethality. Similarly, mutations in a given Ras isoform are associated with a particular type of cancer. …”
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    Ras isoforms: signaling specificities in CD40 pathway
  10. 196970
    “…These findings provide new insights into GnRH-1 and OECs development and demonstrate that human GLI3 mutations contribute to KS etiology. SIGNIFICANCE STATEMENT The transcription factor Gli3 is necessary for correct development of the olfactory system. …”
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    Gli3 Regulates Vomeronasal Neurogenesis, Olfactory Ensheathing Cell Formation, and GnRH-1 Neuronal Migration
  11. 196971
    “…The sequences were used for determination of HIV subtypes and the presence of drug resistance mutations. Transmission networks were constructed to explore possible relationships. …”
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    Genetic characterization of HIV-1 epidemic in Anhui Province, China
  12. 196972
    “…Whole exome sequencing revealed no recurrent somatic mutations or amplifications/homozygous deletions in any known oncogenes or tumor suppressor genes. …”
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    SCLEROSING EPITHELIOID MESENCHYMAL NEOPLASM OF THE PANCREAS A PROPOSED NEW ENTITY
  13. 196973
    “…Binary logistic regression is considered to predict associations between mutations and nutritional risk factors including only CRC case series. …”
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    Behavioral, Nutritional, and Genetic Risk Factors of Colorectal Cancers in Morocco: Protocol for a Multicenter Case-Control Study
  14. 196974
    “…SIGNIFICANCE STATEMENT Genetic studies indicate that TREM2 gene mutations confer increased Alzheimer's disease (AD) risk. …”
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    Trem2 Deletion Reduces Late-Stage Amyloid Plaque Accumulation, Elevates the Aβ42:Aβ40 Ratio, and Exacerbates Axonal Dystrophy and Dendritic Spine Loss in the PS2APP Alzheimer's Mouse Model
  15. 196975
    “…This approach redefines molecular pathologies underlying disease in which global DNA methylation is aberrant or where Polycomb mutations are present. SUPPLEMENTARY INFORMATION: Supplementary information accompanies this paper at 10.1186/s12915-020-0752-3.…”
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    Bivalent promoter hypermethylation in cancer is linked to the H327me3/H3K4me3 ratio in embryonic stem cells
  16. 196976
    “…To further understand how inflammation impacts the development of tau pathology, we used (hTau) mice, which express all six, non-mutated, human tau isoforms, but with an altered ratio of tau isoforms favoring 3R tau due to the concomitant loss of murine tau (mTau) that is predominantly 4R. …”
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    Increasing Tau 4R Tau Levels Exacerbates Hippocampal Tau Hyperphosphorylation in the hTau Model of Tauopathy but Also Tau Dephosphorylation Following Acute Systemic Inflammation
  17. 196977
    “…Here, we compared the levels of hepcidin and CLP in healthy individuals and FMF patients during an attack-free period and show its relation to genetic mutations. METHODS: This is a cross-sectional study. …”
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    Can Calprotectin Show Subclinical Inflammation in Familial Mediterranean Fever Patients?
  18. 196978
    “…BACKGROUND: Checkpoint inhibitors (CPIs) are thought to be effective against cutaneous melanoma in part because of the large burden of somatic mutations (neoantigens) generated from exposure to ultraviolet radiation. …”
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    Survival after checkpoint inhibitors for metastatic acral, mucosal and uveal melanoma
  19. 196979
    por Egberink, H., Horzinek, M.C.
    Publicado 1992
    “…Besides the three large open reading frames (ORFs) comprising the gag, pol, and env genes common to all replication-competent retroviruses, five additional small ORFs were found. Numerous point mutations and deletions were found, mostly in the env-encoding ORF. …”
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    Animal immunodeficiency viruses
  20. 196980
    por Schneider, Erich H., Seifert, Roland
    Publicado 2017
    “…The causes for these differences were analyzed by molecular modeling in combination with mutational studies. Co-expression of the hH(3)R with Gα(i1), Gα(i2), Gα(i3), and Gα(i/o) in Sf9 cells revealed high constitutive activity and comparable interaction efficiency with all G protein isoforms. …”
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    Pharmacological Characterization of Human Histamine Receptors and Histamine Receptor Mutants in the Sf9 Cell Expression System
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