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  1. 196681
    “…For patients with tumor sequencing (n = 17), the most common mutations were in CTNNB1 (13) and NRF2 (4). First relapse sites were lungs (n = 12), liver (n = 11) and both (n = 6). …”
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    Retreatment with Cisplatin May Provide a Survival Advantage for Children with Relapsed/Refractory Hepatoblastoma: An Institutional Experience
  2. 196682
    “…These and other findings led to the conclusion that (1) SGLT5 is the main renal transporter of 1,5-AG; (2) frequent heterozygous mutations (allelic frequency > 1%) in SGLT5 lower blood 1,5-AG, favourably influencing neutropenia in G6PC3 or G6PT deficiency; (3) the effect of SGLT2-inhibitors on blood 1,5-AG level is largely indirect; (4) specific SGLT5-inhibitors would be more efficient to treat these neutropenias than SGLT2-inhibitors. …”
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    SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia
  3. 196683
    “…A cytokine array shows the presence of gamma-interferon and interleukin-17. Patients carrying mutations in the PIT1 or PROP1 genes may present PAH. …”
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    Unveiling the Etiopathogenic Spectrum of Hypophysitis: A Narrative Review
  4. 196684
    “…Sanger sequencing indicated that the Cas12a-MV constructs made a considerable mutations at the target sites of the viral genome. …”
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    LbCas12a mediated suppression of Cotton leaf curl Multan virus
  5. 196685
    “…Eight EM clinical isolates containing the ant(6) gene had MIC values (<=32μg/mL) lower by at least 16-fold than FMS-007 (512μg/mL) for STR, and N59H and K204Q were the common mutations in the ant(6) gene. CONCLUSION: This assay verified the biochemical function of the predictive gene ant(6)(FMS-007) and could provide an alternative method to study resistant gene function in multi-drug-resistant bacteria. …”
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    Characterization and Molecular Mechanism of Aminoglycoside-6-Adenyl Transferase Associated with Aminoglycoside Resistance from Elizabethkingia meningoseptica
  6. 196686
    “…Biomarkers are biological indicators used to select patients for a systemic anticancer treatment, but there are only a few clinically useful biomarkers such as PD-L1 expression and tumor mutational burden, which can be used to predict immunotherapy response. …”
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    Predictive biomarkers of immunotherapy response with pharmacological applications in solid tumors
  7. 196687
    “…To understand this surprising phenotype, the impact of additional E8^E2 mutations was characterized in tissue culture and mice. …”
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    Mus musculus papillomavirus 1 E8^E2 represses expression of late protein E4 in basal-like keratinocytes via NCoR/SMRT-HDAC3 co-repressor complexes to enable wart formation in vivo
  8. 196688
    “…ABSTRACT: HPV-associated oropharynx carcinoma (HPVOPC) tumors have a relatively low mutational burden. Elucidating the relative contributions of other tumor alterations, such as DNA methylation alterations, alternative splicing events (ASE), and copy number variation (CNV), could provide a deeper understanding of carcinogenesis drivers in this disease. …”
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    A Network Landscape of HPVOPC Reveals Methylation Alterations as Significant Drivers of Gene Expression via an Immune-Mediated GPCR Signal
  9. 196689
    “…This remarkable gain of function may help to understand how single point mutations can modulate proton channel activity. In addition, the cytoplasmic domain was found to be responsible for the low cell surface expression level of bat IAV M2 proteins. …”
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    The M2 proteins of bat influenza A viruses reveal atypical features compared to conventional M2 proteins
  10. 196690
    “…The relationship between immune cell infiltration in the TME, immunotherapy, CRLncSig, and CRGC was demonstrated through various algorithms, Tumor Immune Dysfunction and Exclusion (TIDE), tumor mutational burden (TMB), etc. Potential drugs and sensitivity to those agents were evaluated for the risk model. …”
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    Prediction of prognosis, immune infiltration, and personalized treatment of hepatocellular carcinoma by analysis of cuproptosis-related long noncoding RNAs and verification in vitro
  11. 196691
    “…A comparison was made of the differences in half-maximal drug inhibitory concentration (IC50) and tumor mutational burden (TMB) between groups. In addition, the influence of MAGs on the anticancer efficacy of different therapies was explored. …”
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    Identification and verification of microtubule associated genes in lung adenocarcinoma
  12. 196692
    “…Receptor-mediated IR occurs in rare mutations of the insulin receptor (INSR), whereas in most forms of IR, including type 2 diabetes (T2DM) and lipodystrophy (LD), IR is post-receptor. …”
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    FRI114 PUFAs Implicated In Platelet Activation Differ In Receptor Mediated Vs Post-receptor Insulin Resistance
  13. 196693
    por King, Thomas F J, Sng, Gerald, Puar, Troy
    Publicado 2023
    “…Genetic analysis for hereditary PPGL was negative for mutations in SDHx, VHL, RET, NF1, but there was a variant of uncertain significance in the MUTYH gene, namely c.767C>T (p.Thr245Ile). …”
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    FRI217 False Negative Plasma Metanephrines In A Patient With A Bladder Paraganglioma
  14. 196694
    “…Introduction: Common mechanisms underlying canonically mutated (USP8, USP48 and BRAF) and ‘wildtype’ pituitary adenomas causing Cushing’s disease remain unknown. …”
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    THU478 Unchecked Kinase Activation Underlies Pituitary Adenomas Causing Cushing’s Disease
  15. 196695
    “…To determine isotype specific roles in response to natural and synthetic ligands as well as candidate environmental chemicals interacting with RXRs in vivo, we created targeted germline mutations in the Xenopus tropicalis RXRα (rxra), RXRβ (rxrb), and RXRγ (rxrg) genes. …”
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    SAT013 Characterization Of CRISPR/Cas9 Induced RXR Isotype Mutants In Xenopus Laevis
  16. 196696
    “…Background: Mitochondrial dysfunction leads to decreased Adenosine-3-phosphate (ATP) production and increased ROS production, leading to insulin resistance, and diabetes (T2D). Mutations in mitochondrial DNA (mtDNA) have been associated with increased ROS production. …”
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    SAT077 Association Of Mitochondrial DNA With Type-2-diabetes, Glucose Level, And Insulin Resistance
  17. 196697
    “…This catalog of variants will identify the genes/pathways that are mutated in PCOS leading to improved personalized phenotyping and treatment of PCOS. …”
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    FRI457 Protein-coding Genetic Variation In Polycystic Ovary Syndrome
  18. 196698
    “…Emerging evidence has revealed that the majority of cases of primary aldosteronism involve pathogenic somatic mutations that ultimately increase calcium signaling and autonomous aldosterone production. …”
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    FRI154 Saline Suppression Testing And Acute Hypocalcemia: Impacts On Diagnostic Testing For Primary Aldosteronism
  19. 196699
    “…Atypical serological profiles suggest distinct disease stages, immune response variations, and viral mutations. This study enhances comprehension of viral replication, immune responses, and disease progression, potentially guiding tailored therapeutic strategies.…”
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    Unraveling the Complexity of Atypical Serological Profiles in Chronic Hepatitis B: Insights Into Disease Dynamics and Clinical Implications
  20. 196700
    “…The first patient was treated for presumed hyperopic amblyopia that did not improve since childhood, experienced visual loss in the good eye at the age of 17, and was negative for the three typical LHON mutations. Extended testing confirmed an atypical pathogenic variant MT-ND1:m.3700G>A in homoplasmy. …”
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    Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
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