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  1. 197181
    “…This paper explored the expression pattern, mutational profile, prognostic value, tumor immune infiltration, and response to immunotherapy of CD73 in a continuous cohort of cancers through various computational tools. …”
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    Identification of CD73 as a Novel Biomarker Encompassing the Tumor Microenvironment, Prognosis, and Therapeutic Responses in Various Cancers
  2. 197182
    “…Patients harboring homozygous or compound heterozygous loss-of-function (LOF) mutations in the WNT ligand WNT2B present with congenital diarrhea and require parenteral nutrition. …”
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    OR04-2 WNT2B Deficiency Results in Hyperreninemic Hypoaldosteronism in Humans and Mice
  3. 197183
    “…Introduction: MEN 1 syndrome is a rare disease in children and young adults, with prevalence reported as 2 per 100,000. MEN 1 caused by mutations in the MEN1 tumor suppressor gene, characterized by 2 or more MEN1 tumors: parathyroid, anterior pituitary, pancreatic islet tumors. …”
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    LBODP065 Rare Cause Of Bone Pain In MEN Syndrome
  4. 197184
    “…To our knowledge, this is first reported case of an aHUS patient carrying FHR2 mutations and provides an example of a translational therapeutic approach in kidney transplantation.…”
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    Case report: Novel FHR2 variants in atypical Hemolytic Uremic Syndrome: A case study of a translational medicine approach in renal transplantation
  5. 197185
    “…Genetic testing was pursued and demonstrated mutations in the hepatic nuclear factor 1B (HNF1B) gene which confirmed the MODY type 5 diagnosis. …”
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    PSUN247 Unique Presentation of MODY Type 5
  6. 197186
    “…Larger animals with their lower effective population sizes and subsequent less effective selection relative to drift may have more deleterious mutations, reducing maximal performance and metabolic rates. …”
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    White Paper: An Integrated Perspective on the Causes of Hypometric Metabolic Scaling in Animals
  7. 197187
    “…ATHENA (ClinicalTrials.gov identifier: NCT03522246) was designed to evaluate rucaparib first-line maintenance treatment in a broad patient population, including those without BRCA1 or BRCA2 (BRCA) mutations or other evidence of homologous recombination deficiency (HRD), or high-risk clinical characteristics such as residual disease. …”
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    A Randomized, Phase III Trial to Evaluate Rucaparib Monotherapy as Maintenance Treatment in Patients With Newly Diagnosed Ovarian Cancer (ATHENA–MONO/GOG-3020/ENGOT-ov45)
  8. 197188
    “…To date, reports of mutations in β-lactamase and siderophore complex genes have been described and may contribute to FDC resistance. …”
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    139. Development of cefiderocol resistance in an Enterobacter hormaechei strain following prolonged antibiotic exposure
  9. 197189
    “…All isolates carried mutations in the QRDR (gyrA_S83I, parC_S84I). Based on cgMLST analysis, these 5 P. mirabilis isolates were highly similar, with only 7-19 SNPs detected. …”
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    2036. Dual VIM-producing Proteus mirabilis, Including a Novel VIM-75, Among Elderly Patients in a Medical Center from Hungary: Report from the 2020 SENTRY Antimicrobial Surveillance Program
  10. 197190
    “…We assessed the potential added value of using next-generation sequencing (NGS) over Sanger sequencing for detecting nucleoside reverse transcriptase inhibitor (NRTI) and nonnucleoside reverse transcriptase inhibitor (NNRTI) drug resistance mutations (DRMs). Participants included 132 treatment-experienced Kenyan children and adolescents with diverse HIV-1 subtypes and with already high levels of drug resistance detected by Sanger sequencing. …”
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    Added Value of Next Generation over Sanger Sequencing in Kenyan Youth with Extensive HIV-1 Drug Resistance
  11. 197191
    “…Skin barrier dysfunction caused by SPINK5 gene mutations is a hallmark of the disease. Antigen penetration through the defective skin and nonspecific inflammation provide a pro-T helper 2 (Th2) immune microenvironment in the disease. …”
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    Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation
  12. 197192
    “…The intervention included genetic testing for three AJ BRCA‐mutations: 185delAG(c.68_69delAG), 5382insC(c.5266dupC) and 6174delT(c.5946delT). …”
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    Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term secondary lifestyle behavioural outcomes
  13. 197193
    “…BACKGROUND: The reluctance of individuals to obtain solid vaccine-induced immunity represents a fundamental challenge to containing the spread of SARS-CoV-2, including its highly mutated variants. We aimed to assess vaccination acceptance and associated factors for the COVID-19 vaccine booster dose among elderly people (≥60 years old) in China, providing a theoretical and practical reference for universal vaccination policy. …”
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    Acceptance of the COVID-19 vaccine booster dose and associated factors among the elderly in China based on the health belief model (HBM): A national cross-sectional study
  14. 197194
    “…BACKGROUND: Systemic mastocytosis (SM) is a rare clonal neoplasm driven by KIT D816V and other mutations. Data were collected from the patient perspective on disease burden and included an SM‐specific symptom assessment tool. …”
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    Patient‐reported outcomes among patients with systemic mastocytosis in routine clinical practice: Results of the TouchStone SM Patient Survey
  15. 197195
    “…Next, RNA sequencing analysis was used to determine the abundances and characteristics of the transcripts, as well as the associated somatic mutations and alternative splicing. We screened 727 differentially expressed genes (DEGs) with p < 0.05 and |log(2)(Fold Change)| ≥ 1, as the thresholds; GO and KEGG enrichment analysis showed that LPS-induced liver injury may be involved in the Toll-like receptor signaling pathway, MAPK signaling pathway, NOD-like receptor signaling pathway, FoxO, and PPAR signaling pathway. …”
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    LPS-Induced Liver Injury of Magang Geese through Toll-like Receptor and MAPK Signaling Pathway
  16. 197196
    “…Data on the stemness index based on mRNA expression (mRNAsi), gene mutations, and corresponding clinical characteristics were obtained from TCGA and ICGC. …”
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    Constructing and validating of m7G-related genes prognostic signature for hepatocellular carcinoma and immune infiltration: potential biomarkers for predicting the overall survival
  17. 197197
    “…FN-RMS shows cytogenetic abnormalities and frequently harbors RAS pathway mutations. Despite the multimodal heavy chemo and radiation therapeutic regimens, high risk metastatic/recurrent FN-RMS shows a 5-year survival less than 30% due to poor sensitivity to chemo-radiotherapy. …”
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    Spermine oxidase induces DNA damage and sensitizes fusion negative rhabdomyosarcoma cells to irradiation
  18. 197198
    “…Poly ADP-ribose polymerase (PARP) inhibitors are considered in breast cancer (BRCA) susceptibility genes mutated tumors. The role of antiangiogenic drugs is controversial. …”
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    The combined effect and mechanism of antiangiogenic drugs and PD-L1 inhibitor on cell apoptosis in triple negative breast cancer
  19. 197199
    “…Moreover, we discovered that these four m7GRGs expressions were negatively correlated with CD4(+) T cell levels, dendritic cell level and tumor purity, and positively correlated with tumor mutational burden, microsatellite instability, drug sensitivity and cuproptosis-related genes in patients with sarcomas. …”
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    Identification and verification of m7G-Related genes as biomarkers for prognosis of sarcoma
  20. 197200
    “…A > 1-log reduction in RUNX1/RUNX1T1-based minimal residual disease (MRD) directly before allo-HSCT and a > 3-log reduction within the first 3 months after allo-HSCT were associated with a significantly lower post-transplant 3-year cumulative incidence of relapse (CIR, 9% vs. 62% and 10% vs. 47%,all P < 0.001), whereas transplantation during the second complete remission (CR2, 39% vs. 17% during CR1, P = 0.022), during relapse (62% vs. 17% during CR1, P < 0.001) and KIT D816 mutations at diagnosis (49% vs. 18%, P = 0.039) were related to a significantly higher 3-year CIR. …”
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    Risk factors for post-transplant relapse and survival in younger adult patients with t(8;21)(q22;q22) acute myeloid leukemia undergoing allogeneic hematopoietic stem cell transplantation: A multicenter retrospective study
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