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  1. 196641
    “…METHODS: Rats were subjected to injection with adeno-associated viruses containing the human mutated A53T gene (AAV-A53T) or an empty vector into the left cervical vagus nerve and evaluated for gastrointestinal symptoms, locomotor functions, intestinal blood flow, and nerve electrophysiology. …”
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    α-Synuclein induces prodromal symptoms of Parkinson’s disease via activating TLR2/MyD88/NF-κB pathway in Schwann cells of vagus nerve in a rat model
  2. 196642
    “…In the somatic variant profile, TP53 was the most frequently mutated gene, which was consistent with the previous studies about T-MN. …”
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    Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea
  3. 196643
    “…Overall, APE1 deficiency leads to DSB accumulation at a late phase following oxidative stress (after 24 h), which also triggers activation of Ataxia-telangiectasia mutated (ATM), another key kinase of the DDR. Inhibition of ATM activity significantly promotes synergistic lethality with oxidative stress in APE1-deficient cells and tumors. …”
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    APE1 promotes non-homologous end joining by initiating DNA double-strand break formation and decreasing ubiquitination of artemis following oxidative genotoxic stress
  4. 196644
    “…ABSTRACT: Colorectal cancer (CRC) is associated with mutations in APC/Wnt leading to c-myc activation and the overexpression of ODC1, the limiting step in polyamine synthesis. …”
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    Transcriptional Basis of Ca(2+) Remodeling Reversal Induced by Polyamine Synthesis Inhibition in Colorectal Cancer Cells
  5. 196645
    “…Also we performed in-silico analysis of mutated TBXA2R protein (R60L) using homology modeling. …”
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    In silico analysis of single nucleotide polymorphism (rs34377097) of TBXA2R gene and pollen induced bronchial asthma susceptibility in West Bengal population, India
  6. 196646
    “…Although the ES yields were higher than CNV‐seq for VSD (44.4%, 4/9), LVOTO (20%, 7/35), Hex (14.89%, 7/47), and CTD (9.1%, 11/121), its diagnostic yield did not increase for SV (6.7%, 1/15), AVSD (3.8%, 1/26), or right ventricular obstruction defects (2.6%, 1/38). The most common mutations were observed in KMT2D, CHD7, and NOTCH1. …”
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    Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting
  7. 196647
    “…They can occur sporadically but more commonly are associated with genetic syndromes such as familial adenomatous polyposis (Sakorafas et al. in Surg Oncol 16(2):131–142, 2007) (FAP). Mutations in either the Wnt, β-catenin or APC genes are ‘key’ triggers for the development of these tumours (Howard and Pollock in Oncol Ther 4(1):57–72, 2016). …”
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    Surgical management of abdominal desmoids: a systematic review and meta-analysis
  8. 196648
    “…Both POLEmut and MMRdef cases share tumor biological similarities like high tumor mutational burden and induce strong lymphatic reactions. …”
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    Spatial distribution of CD3- and CD8-positive lymphocytes as pretest for POLE wild-type in molecular subgroups of endometrial carcinoma
  9. 196649
    “…Moreover, treatment with this antibody or osimertinib, a third generation TKI, inhibited AKT activity, sphere formation, and xenograft tumor growth in lung cancer cells harboring EGFR mutations and expressing both DKK1 and CKAP4, while their combination showed stronger inhibition. …”
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    CKAP4 is a potential exosomal biomarker and therapeutic target for lung cancer
  10. 196650
    “…Beyond S. aureus and MRSA, similar CRISPR diagnostic platforms will find widespread use in the detection of various infectious diseases, malignancies, pharmacogenetics, food contamination, and gene mutations.…”
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    Cas12a/Guide RNA-Based Platforms for Rapidly and Accurately Identifying Staphylococcus aureus and Methicillin-Resistant S. aureus
  11. 196651
    “…IMPORTANCE Continuous emergence of adaptive mutations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to challenge the use and development of existing vaccines and drugs. …”
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    A Beta Strain-Based Spike Glycoprotein Vaccine Candidate Induces Broad Neutralization and Protection against SARS-CoV-2 Variants of Concern
  12. 196652
    “…This study supports the policy of accelerating to vaccination worldwide combat the evolving and mutating SARS-CoV-2. DISCUSSION: Omicron spreads faster and might escape antibodies more readily than previous variants, increasing the cases of reinfection and breakthrough infections in vaccinated people. …”
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    Effects of vaccines on clinical characteristics of convalescent adult patients infected with SARS-CoV-2 Omicron variant: A retrospective study
  13. 196653
    “…Some aspects of in vivo tau spreading have been replicated in transgenic mice models expressing a mutated human MAPT (tau) gene and in wild-type mice. …”
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    Anterograde and Retrograde Propagation of Inoculated Human Tau Fibrils and Tau Oligomers in a Non-Transgenic Rat Tauopathy Model
  14. 196654
    “…In this study, to modify the optimum pH of BsNox, fifteen relevant candidates of site-directed mutations were selected based on surface charge rational design. …”
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    N20D/N116E Combined Mutant Downward Shifted the pH Optimum of Bacillus subtilis NADH Oxidase
  15. 196655
    “…The GEPIA database showed the overall survival rate and the disease-free survival rate of mesothelioma patients in the high SMO and GLI1 expression groups; the UALCAN database analysis showed lower SMO expression levels in mesothelioma patients with more pronounced TP53 mutations (P = 0.001); GLI1 gene expression levels were strongly correlated with lymph node metastasis in mesothelioma patients (P = 0.009). …”
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    High Expression of SMO and GLI1 Genes with Poor Prognosis in Malignant Mesothelioma
  16. 196656
    “…We previously identified mutations in FGD4 as responsible for CMT4H, an autosomal recessive demyelinating form of CMT disease. …”
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    Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
  17. 196657
    “…The genetic features were divided into two clusters by the mutational stability. The normalized polygenic risk score (PRS) was used to evaluate the combined effect of each SNP cluster. …”
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    A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients
  18. 196658
    “…In addition, the abnormal TLR7 expression was associated with mismatch repair (MMR), microsatellite instability (MSI), and tumor mutational burden (TMB) in various cancers. Mined by the ESTIMATE algorithm, the expression of TLR7 was also closely linked to various immune infiltration patterns in pan-cancer, and TLR7 was mainly enriched in macrophages, as revealed by single-cell RNA sequencing. …”
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    Revealing the roles of TLR7, a nucleic acid sensor for COVID-19 in pan-cancer
  19. 196659
    “…In contrast, disturbed IκBα degradation and reduced calcium ion (Ca2(+)) influx occurs on anti-IgM stimulation in the patient’s B cells, suggesting an enzymatic impairment of the mutated tyrosine kinase domain.…”
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    Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study
  20. 196660
    “…This may be because the accumulating resistance mutations in ICU-derived P. aeruginosa are linked to a decrease in virulence.…”
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    A comparative study of intestinal Pseudomonas aeruginosa in healthy individuals and ICU inpatients
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