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  1. 194981
    “…OBJECTIVE: To analyze the outcomes of patients with mUC and any FGFRa (mutations or fusions) who received anti–PD-(L)1 therapy. …”
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    Outcomes of Patients with Advanced Urothelial Carcinoma after Anti–programmed Death-(ligand) 1 Therapy by Fibroblast Growth Factor Receptor Gene Alteration Status: An Observational Study
  2. 194982
    “…RESULTS: Among the 14 patients enrolled during phase I, including 13 women and 1 man, 9 had BC, 1 PC, 2 CC, and 2 miscellaneous cancers with high mutational loads. Median age was 53 years. A total of 12 patients were assessable for the dose-escalation part in which only one dose-limiting toxicity (DLT) was observed [one neutropenia without fever, grade (G) 4]. …”
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    MOVIE: a phase I, open-label, multicenter study to evaluate the safety and tolerability of metronomic vinorelbine combined with durvalumab plus tremelimumab in patients with advanced solid tumors
  3. 194983
    “…In the present study, samples were retrieved from The Cancer Genome Atlas with somatic mutations and lncRNA expression data. Cox regression analysis was used to identify independent prognostic factors. …”
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    Genome stability-related lncRNA ZFPM2-AS1 promotes tumor progression via miR-3065-5p/XRCC4 in hepatocellular carcinoma
  4. 194984
    “…We used online databases to screen mutated genes in ccRCC, and then used ConsensusClusterPlus to cluster clinical samples to analyze differences in clinical prognosis and immune components between the two subgroups. …”
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    Construction of an Immune Escape-Related Signature in Clear Cell Renal Cell Carcinoma and Identification of the Relationship between IFNAR1 and Immune Infiltration by Multiple Immunohistochemistry
  5. 194985
    “…Understanding FGFR inhibitor-resistance mechanisms is increasingly relevant; we surveyed the pan-tumor landscape of FGFR1-4 genomic alterations [short variants (SVs), gene rearrangements (REs), and copy number alterations (CNAs)], including their association with tumor mutational burden (TMB) and the genomic comutational landscape. …”
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    Pan-tumor landscape of fibroblast growth factor receptor 1-4 genomic alterations
  6. 194986
    “…MKN74 cells stably transduced with ectopic wild-type RhoA and mutant RhoA (G17E) were used in a peritoneal xenograft assay. Results: The RhoA mutations G17E and Y42C induced morphological changes in MKN74. …”
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    RhoA G17E/Vav1 Signaling Induces Cancer Invasion via Matrix Metalloproteinase-9 in Gastric Cancer
  7. 194987
    por Zuo, Chunxia, Xie, Jianlan
    Publicado 2022
    “…Through next-generation sequencing, no mutations in the BRCA1 and BRCA2 genes were identified in our case, which was not highlighted in prior cases. …”
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    Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: a case report and literature review
  8. 194988
    “…CDK8 was suggested as a functional gene for the proliferation of porcine ovarian granulosa cells, but further studies are required to determine causative mutations and the effect of loci on NM in pigs.…”
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    Whole-genome sequence association study identifies cyclin dependent kinase 8 as a key gene for the number of mummified piglets
  9. 194989
    “…OBJECTIVE: The rationale for this study was based on reports that valosin‐containing protein (VCP) mutations are found in hereditary inclusion body myositis (IBM) and VCP was detected in rimmed vacuoles of sporadic IBM (sIBM) muscle biopsies. …”
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    Anti–Valosin‐Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies
  10. 194990
    “…Following transmission, the virus population becomes more diverse because of recombination and acquired mutations through genetic drift and selection. Viral intrahost genetic diversity remains a major obstacle to the cure of HIV; however, the association between intrahost diversity and disease progression markers has not been investigated in large and diverse cohorts for which the majority of the genome has been deep-sequenced. …”
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    Deep-sequencing of viral genomes from a large and diverse cohort of treatment-naive HIV-infected persons shows associations between intrahost genetic diversity and viral load
  11. 194991
    “…BACKGROUND: Several epidermal growth factor receptor tyrosine kinase inhibitors (EGFR TKI) have been approved for first‐line (1L) treatment of EGFR‐mutated metastatic non‐small cell lung cancer (mNSCLC) in the United States (US). …”
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    Real‐world treatment patterns of metastatic non‐small cell lung cancer patients receiving epidermal growth factor receptor tyrosine kinase inhibitors
  12. 194992
    “…With regard to membrane permeability, ompK35 and ompK36 harbored frameshift mutations in 15/16 strains; analysis of ompK37 gene revealed that all strains harbored a non-functional protein and carry wild-type PBP3. …”
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    Omic insights into various ceftazidime-avibactam-resistant Klebsiella pneumoniae isolates from two southern Italian regions
  13. 194993
    “…RESULTS AND DISCUSSION: The γδVAR-αCD3 proteins were poorly expressed, and while the addition of stabilizing mutations based on finding for αβ single chain formats increased expression, generation of meaningful amounts of γδVAR-αCD3 protein was not possible. …”
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    The making of multivalent gamma delta TCR anti-CD3 bispecific T cell engagers
  14. 194994
    por Dröden, Jessica, Drescher, Malte
    Publicado 2023
    “…Here, we used rapid scan (RS) electron paramagnetic resonance (EPR) spectroscopy to study the intermolecular interactions of the IDP α-synuclein (aS). aS aggregation and fibril deposition is the hallmark of Parkinson’s disease, and specific point mutations, among them A30P and A53T, were linked to the early onset of the disease. …”
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    Rapid Scan Electron Paramagnetic Resonance Spectroscopy Is a Suitable Tool to Study Intermolecular Interactions of Intrinsically Disordered Protein
  15. 194995
    “…These changes enabled persistent Met pathway activation and improved cell survival under stress conditions. Point mutations in the HGF pathway or other complementary or downstream growth regulatory cascades that are frequently associated with targeted drug resistance in other prevalent cancer types were not observed. …”
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    Rilotumumab Resistance Acquired by Intracrine Hepatocyte Growth Factor Signaling
  16. 194996
    “…During this period, a total of 61 different lineages and sublineages were identified, with most falling into three groups: B.1.258 & sublineages, Alpha (B.1.1.7 & Q. sublineages), and Delta (B.1.617.2 & AY. sublineages), each encompassing a set of S gene mutations that primarily confer increased transmissibility as well as immune evasion. …”
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    Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern
  17. 194997
    “…We also found out that, differently from other secondary TMAs (such as pregnancy-related-TMA and malignant hypertension TMA), complement genetic pathological mutations are rarely involved in DITMA (2/122, 1.6%). …”
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    Drug-induced thrombotic microangiopathy: An updated review of causative drugs, pathophysiology, and management
  18. 194998
    “…Results: We constructed a scoring model to assess the significance of the prognosis risk-related gene signatures, which was relative to common tumor characteristics and tumor mutational burdens. Patients with a high-risk score had higher tumor stage and poor prognosis (p< 0.05). …”
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    A novel prognostic gene set for colon adenocarcinoma relative to the tumor microenvironment, chemotherapy, and immune therapy
  19. 194999
    “…BRAF V600 mutations occur in many childhood cancers, including approximately 20% of low-grade gliomas (LGGs). …”
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    Efficacy and Safety of Trametinib Monotherapy or in Combination With Dabrafenib in Pediatric BRAF V600–Mutant Low-Grade Glioma
  20. 195000
    por Acevedo-Whitehouse, K., Bruno, R.
    Publicado 2023
    “…Their concurrent activation initiates a synchronized innate response against non-self nucleic acids, prompting type-I interferon and pro-inflammatory cytokine production which, if unregulated, leads to autoinflammatory and autoimmune conditions, while activated TEs increase the risk of insertional mutagenesis of the reverse transcribed molecules, which can disrupt coding regions, enhance the risk of mutations in tumour suppressor genes, and lead to sustained DNA damage. …”
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    Potential health risks of mRNA-based vaccine therapy: A hypothesis
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