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  1. 198061
    “…FINDINGS: Patient 0 was a Chinese resident who visited Germany for professional reasons. 16 subsequent cases, often with mild and non-specific symptoms, emerged in four transmission generations. Signature mutations in the viral genome occurred upon foundation of generation 2, as well as in one case pertaining to generation 4. …”
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    Investigation of a COVID-19 outbreak in Germany resulting from a single travel-associated primary case: a case series
  2. 198062
    “…BACKGROUND: KRAS mutations are prevalent in 40–45% of patients with colorectal cancer (CRC) and targeting this gene has remained elusive. …”
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    Immune characterization of metastatic colorectal cancer patients post reovirus administration
  3. 198063
    “…Significantly, CDR1as inhibits tumor growth in vitro and in vivo, but has little impact in cells where p53 is absent or mutated. CONCLUSIONS: Rather than acting as a miRNA sponge, CDR1as functions as a tumor suppressor through binding directly to p53 at its DBD region to restrict MDM2 interaction. …”
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    Circular RNA CDR1as disrupts the p53/MDM2 complex to inhibit Gliomagenesis
  4. 198064
    “…CONCLUSION: This study provides basic data for understanding the relation among E6/E7/LCR mutations, lineages and carcinogenesis. Furthermore, it provides an insight into the intrinsic geographical relatedness and biological differences of the HPV-52 variants, and contributes to further research on the HPV-52 therapeutic vaccine development. …”
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    The genetic variability, phylogeny and functional significance of E6, E7 and LCR in human papillomavirus type 52 isolates in Sichuan, China
  5. 198065
    “…The transgenic (TG) TgF344-AD rat has been reported to develop age-dependent AD features including neuronal loss and neurofibrillary tangles, despite only expressing APP and PSEN1 mutations, suggesting an improved modelling of AD hallmarks. …”
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    Prodromal neuroinflammatory, cholinergic and metabolite dysfunction detected by PET and MRS in the TgF344-AD transgenic rat model of AD: a collaborative multi-modal study
  6. 198066
    “…In addition, molecular analysis was performed for classification into the four ProMisE subtypes: polymerase‐ϵ exonuclease domain mutations (POLE EDM), mismatch repair proteins deficiency (MMR‐D), protein 53 wild type (p53 wt) and protein 53 abnormal (p53 abn). …”
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    Combination of Proactive Molecular Risk Classifier for Endometrial cancer (ProMisE) with sonographic and demographic characteristics in preoperative prediction of recurrence or progression of endometrial cancer
  7. 198067
    “…Resistance testing performed in 3 of the 4 pts, identified LTV resistance mutations in 2 pts. There were no AEs related to LTV, and none developed EOD. …”
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    595. Letermovir (LTV) for Secondary Cytomegalovirus (CMV) Prevention in High Risk Hematopoietic Cell Transplant (HCT) Recipients: Interim Results of a Single Center, Open Label Study
  8. 198068
    “…These regions included the coding sequences of 17 genes and mutations that can lead to the development of HCM. …”
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    The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology
  9. 198069
    “…Poly-ADP ribose polymerase (PARP) inhibitors target HRD to induce synthetic lethality and are used routinely in the treatment of BRCA1 mutated ovarian cancer in the platinum-sensitive maintenance setting. …”
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    Olaparib maintenance versus placebo monotherapy in patients with advanced non-small cell lung cancer (PIN): A multicentre, randomised, controlled, phase 2 trial
  10. 198070
    “…We used the ‘tcs’ pipeline to construct template consensus sequences (TCS) for each region, and searched for drug resistance mutations (DRMs). The Geno2pheno pipeline was used to predict co-receptor tropisms. …”
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    2073. Persistent HIV-1 Viremia Despite Intensive Antiviral Therapy Due to Non-responsive Clonal Viral Lineages
  11. 198071
    “…Electrophysiology experiments on sperm from Patient 1 showed a near absence of CatSper current and exon screening demonstrated no mutations in the coding regions of the CatSper complex. …”
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    Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa
  12. 198072
    “…No resistance-associated mutations related to any study drug were observed. …”
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    Week 48 Results of EMERALD: A Phase 3, Randomized, Non-inferiority Study Evaluating the Efficacy and Safety of Switching from Boosted-protease Inhibitors (bPI) Plus Emtricitabine (FTC)/Tenofovir Disoproxil Fumarate (TDF) Regimens to the Once Daily (QD), Single-tablet Regimen (STR) of Darunavir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (D/C/F/TAF) in Virologically Suppressed, HIV-1-infected Adults
  13. 198073
    “…Immunohistochemical analysis included nuclear exclusion of FOXO3 as a marker of follicle activation, γH2AX as a marker of DNA damage, meiotic recombination 11 (MRE11), ataxia telangiectasia mutated (ATM), Rad51, breast cancer susceptibility 1 (BRCA1) and breast cancer susceptibility 2 (BRCA2) as DNA repair factors. …”
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    Inhibition of PTEN activates bovine non-growing follicles in vitro but increases DNA damage and reduces DNA repair response
  14. 198074
    “…Two of the three participants with CVF had ≥ 2 of the three baseline factors (archived RPV resistance-associated mutations [RAMs], HIV subtype A6/A1, body mass index [BMI] ≥ 30 kg/m(2)) previously associated with CVF. …”
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    877. North American Phase 3/3b Experience with Long-Acting Cabotegravir and Rilpivirine: Efficacy, Safety, and Virologic Outcomes
  15. 198075
    “…As a hACE2 mimetic, it is resilient to antibody escape mutations found in SARS-CoV-2 VOC. NL-CVX1 further demonstrates the power and utility of de novo protein design for developing proteins as human therapeutics. …”
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    131. Antiviral NL-CVX1 Efficiently Blocks Infection of SARS-CoV-2 Viral Variants of Concern (VOC)
  16. 198076
    “…METHODS: The synthetic consensus (SynCon®) sequence for INO-4802 SARS-CoV-2 spike with focused RBD changes and dual proline mutations was codon-optimized (Figure 1). Sequences for wild-type (pWT) and B.1.351 (pB.1.351) were similarly optimized. …”
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    579. Design and Immunogenicity of a Pan-SARS-CoV-2 Synthetic DNA Vaccine
  17. 198077
    “…Transcriptomic fingerprints were pointed out by ANOVA with Benjamini-Hochberg False Discovery Rate (FDR) and association of copy number alterations or somatic mutations was determined by comparing each subgroup with a two-tailed Fisher’s exact test. …”
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    Growth factor independence underpins a paroxysmal, aggressive Wnt5a(High)/EphA2(Low) phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
  18. 198078
    “…CONCLUSIONS: Nivolumab plus rucaparib is active in patients with HRD-positive postchemotherapy or chemotherapy-naïve mCRPC, particularly those harboring BRCA1/2 mutations. Safety was as expected, with no new signals identified. …”
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    Nivolumab plus rucaparib for metastatic castration-resistant prostate cancer: results from the phase 2 CheckMate 9KD trial
  19. 198079
    “…Results: 111 patients were included [46 (41.4%) presented pathological BRCA1/2 mutations, 8 (7.5%) in other homologous recombination-related genes]. …”
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    Multicenter Real-World Data of Subsequent Chemotherapy after Progression to PARP Inhibitors in a Maintenance Relapse Setting
  20. 198080
    “…PLAIN LANGUAGE SUMMARY: Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia Background: β-thalassemia is a genetic blood disorder caused by mutations in the β-globin gene, which encodes one of the proteins that comprise hemoglobin, a key constituent of red blood cells. …”
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    Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia
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