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  1. 194501
    “…RESULTS: Data from about 207 patients from four landmark papers were compiled to build an overview of RS genomic lesions and point mutations. A number of these abnormalities may be involved in tumor microenvironment reshaping. …”
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    Microenvironment Remodeling and Subsequent Clinical Implications in Diffuse Large B-Cell Histologic Variant of Richter Syndrome
  2. 194502
    “…To verify proline as one of the biologically active compounds in N. muscorum CM, we used three mutant A. thaliana lines with proline transporter mutations (lht1, aap1 and atprot1-1::atprot2-3::atprot3-2). …”
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    Cyanobacteria-Derived Proline Increases Stress Tolerance in Arabidopsis thaliana Root Hairs by Suppressing Programmed Cell Death
  3. 194503
    “…Patients with TSC/SIB have higher frequencies of mental retardation, TSC2 mutations, history of infantile spasms, spike focus in the left frontal lobe. …”
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    Management of Self-Injurious Behavior, Aggression, and Psychogenic Non-Epileptic Seizures in Patients With Tuberous Sclerosis: A Case Report With a Review of Literature
  4. 194504
    “…Consistent with this prediction, the mutated version of PtAAD gene (F160L, A223T, and L156M) in N. benthamiana systems failed to accumulate 16:1Δ(9), but increased levels of 18:1Δ(9). …”
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    Characterization of a Novel Acyl-ACP Δ(9) Desaturase Gene Responsible for Palmitoleic Acid Accumulation in a Diatom Phaeodactylum tricornutum
  5. 194505
    “…WES did not reveal any causative variants, suggesting that variants or mutations located outside the coding regions might be involved in the molecular pathogenesis of PFH. …”
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    Genome-wide linkage analysis of families with primary hyperhidrosis
  6. 194506
    “…We conducted chart review to examine (a) the reasons for switch from other ART to dolutegravir and doravirine, and comorbidities, HIV resistance mutations or drug interactions precluding the use of standard ART, (b) adverse events or side effects and (c) achievement of virologic suppression. …”
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    1009. Dolutegravir and Doravirine in Combination: When Standard Antiretroviral Regimens are Unacceptable
  7. 194507
    “…The homozygous state of hemoglobin S (HbSS) results in sickle cell anemia (SCA) whereas the heterozygous state (HbAS) results in sickle cell trait (SCT). Both mutations are reported to mediate the reduction in the severity and fatality of Plasmodium falciparum malaria. …”
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    Hemoglobin Genotypes Modulate Inflammatory Response to Plasmodium Infection
  8. 194508
    “…Phylogenetic analysis indicated that h9.4.2.5‐like H9N2 viruses were predominant during 2013‐2018 and acquired multiple specific amino acid mutations that may have increased their affinity for mammals and enhanced their infectivity and transmissibility. …”
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    Molecular characteristics of the H9N2 avian influenza viruses in live poultry markets in Anhui Province, China, 2013 to 2018
  9. 194509
    “…ABSTRACT: Malignant pleural mesothelioma (MPM) is an aggressive cancer defined by loss-of-function mutations with few therapeutic options. We examined the contribution of the transcription factor Signal transducer and activator of transcription 3 (STAT3) to cell growth and gene expression in preclinical models of MPM. …”
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    Inhibitors of the Transcription Factor STAT3 Decrease Growth and Induce Immune Response Genes in Models of Malignant Pleural Mesothelioma (MPM)
  10. 194510
    “…Examples of unique patterns of alterations included CCND1 amplification in breast cancer (17.3%); CDK4 alterations in sarcomas (12%); CCND2 in testicular cancer (23.4%), and SMARCB1 mutations in kidney cancer (3% overall, 90% in malignant rhabdoid tumors). …”
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    Cyclin Pathway Genomic Alterations Across 190,247 Solid Tumors: Leveraging Large‐Scale Data to Inform Therapeutic Directions
  11. 194511
    “…In silico antibiotic susceptibility analysis revealed that 40% of the strains were multi‐drug resistant. Mutations associated with resistance to metronidazole, fluoroquinolone, and clarithromycin were detected 90%, 45%, and 5%, respectively, in H pylori strain. …”
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    A comparative whole genome analysis of Helicobacter pylori from a human dense South Asian setting
  12. 194512
    “…Resistance in CPB is reported for over 50 classes of insecticides, and mechanisms of insecticide-resistance include enhanced detoxification enzymes, ABC transporters and target site mutations. Adaptation to insecticides is also associated with changes in behaviour, energy metabolism and other physiological processes seemingly unrelated to resistance but partially explained through genomic analyses. …”
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    Proteomic Analyses Detect Higher Expression of C-Type Lectins in Imidacloprid-Resistant Colorado Potato Beetle Leptinotarsa decemlineata Say
  13. 194513
    “…Conclusions: In couples with reproductive disorders, chromosomal mutations and chromosomal length polymorphisms were found at similar rates: 3% vs. 3.6%. …”
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    Evaluation of Chromosomal Structural Anomalies in Fertility Disorders
  14. 194514
    “…Adaptive metabolic alterations in cancer cells can be attributed to mutations in key metabolic enzymes and transcription factors. …”
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    Resveratrol’s Anti-Cancer Effects through the Modulation of Tumor Glucose Metabolism
  15. 194515
    “…Thirty-three isolates (enrofloxacin, MIC ≥ 0.25) showed point mutations in the gyrA and parC genes. One isolate, S. enterica ser. …”
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    The Occurrence of Antimicrobial-Resistant Salmonella enterica in Hatcheries and Dissemination in an Integrated Broiler Chicken Operation in Korea
  16. 194516
    “…Subclonal reconstruction methods cluster mutations into groups that co-occur within the same subpopulations, estimate the frequency of cells belonging to each subpopulation, and infer the ancestral relationships among the subpopulations by constructing a clone tree. …”
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    Reconstructing tumor evolutionary histories and clone trees in polynomial-time with SubMARine
  17. 194517
    “…RESULTS: Of 433 samples, 101 (23.22%) had m6A regulatory factor mutations. From these, we identified three m6A subtypes, which correlated with different TIME phenotypes: immune rejection, immune infiltration, and immune deficiency. …”
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    N6-methyladenosine (m6A)-mediated messenger RNA signatures and the tumor immune microenvironment can predict the prognosis of hepatocellular carcinoma
  18. 194518
    “…The advent of next-generation sequencing enabled the detection in resected FCD tissue of low-level brain somatic mutations that occurred during embryonic corticogenesis. …”
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    Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review
  19. 194519
    “…The radial growth rate of the ΔFpppr1 deletion mutant was significantly slower than the wild type strain WZ-8A on potato dextrose agar plates and exhibited significantly smaller colonies with sector mutations. The aerial mycelium of the mutant was almost absent in culture tubes. …”
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    The FpPPR1 Gene Encodes a Pentatricopeptide Repeat Protein That Is Essential for Asexual Development, Sporulation, and Pathogenesis in Fusarium pseudograminearum
  20. 194520
    “…The diagnostic yield of 20.3% indicates that polymicrogyria may be associated with genes not yet known to be associated with brain malformations, brain-specific somatic mutations or non-genetic causes.…”
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    Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
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