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  1. 195301
    “…Hereditary Hemolytic Anemias (HHAs) are a rare but heterogeneous group of erythrocytic diseases, characterized by intrinsic cellular defects due to inherited genetic mutations. We investigated the efficacy of Chinese herbal medicine (CHM) in reducing the overall, diabetes-related, and cardiovascular diseases (CVDs)-related mortalities among patients with HHAs using a nationwide population database. …”
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    Effect of Chinese Herbal Medicine Therapy on Risks of Overall, Diabetes-Related, and Cardiovascular Diseases-Related Mortalities in Taiwanese Patients With Hereditary Hemolytic Anemias
  2. 195302
    “…A total of 398 patients with molecularly confirmed SCA (SCA1, 2, 3, 6, 17) and 286 patients diagnosed with probable MSA-C (without mutations in SCA1, 2, 3, 6, 17 genes), who had received brain magnetic resonance imaging (MRI) and MRS from January 2000 to January 2020, were recruited. …”
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    Radiological hints for differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia
  3. 195303
    “…Interestingly, we observed that the prevalence of FGFR3 with mutations and focal amplification was significantly higher in low-risk group. …”
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    Alternative splicing patterns reveal prognostic indicator in muscle-invasive bladder cancer
  4. 195304
    “…CONCLUSIONS: Therefore, cancer cells which increase export of H(+) equivalents subsequently increase intracellular alkalization, even without oncogenic driver mutations, and this is sufficient to alter cancer metabolism towards an upregulation of aerobic glycolysis, a Warburg phenotype. …”
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    Proton export upregulates aerobic glycolysis
  5. 195305
    “…Tumor cell SYK was associated with oncogenic driver mutations in EGFR or KRAS in lung adenocarcinomas and with triple negative phenotype in BC. …”
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    Tumor cell SYK expression modulates the tumor immune microenvironment composition in human cancer via TNF-α dependent signaling
  6. 195306
    por Sears, Thomas K., Woolard, Kevin D.
    Publicado 2022
    “…INTRODUCTION: Mutations in isocitrate dehydrogenase 1/2 (IDH(mut)) identify a subset of gliomas that exhibit epigenetic dysregulation via aberrant DNA methylation. …”
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    R132H IDH1 sensitizes glioma to the antiproliferative and cytotoxic effects of BET inhibition
  7. 195307
    “…By testing an array of mutated spike receptor binding domain (RBD) proteins, cell-expressed spike proteins from VOCs, and neutralization of SARS-CoV-2 VOCs as pseudoviruses, or as the authentic viruses in culture, we show that mAbs directed against the ACE2 binding site (ACE2bs) are more sensitive to viral evolution compared to anti-RBD non-ACE2bs mAbs, two of which retain their potency against all VOCs tested. …”
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    Conformational flexibility in neutralization of SARS-CoV-2 by naturally elicited anti-SARS-CoV-2 antibodies
  8. 195308
    “…PKD1 and KAT6A somatic mutations were associated with therapy response. CONCLUSIONS: The triplet regimen was efficacious and well tolerated in previously untreated, advanced, immunomodulatory TNBC. …”
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    Famitinib with Camrelizumab and Nab-Paclitaxel for Advanced Immunomodulatory Triple-Negative Breast Cancer (FUTURE-C-Plus): An Open-Label, Single-Arm, Phase II Trial
  9. 195309
    “…Programmed death-ligand 1 (PD-L1) expression (Tumor Area Positivity [TAP] ≥ 5%), interferon gamma (IFNγ)-related gene signature, gene expression profile, tumor mutational burden (TMB), and gene hyperamplification (HA) were analyzed for correlation with tislelizumab. …”
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    The combination of gene hyperamplification and PD-L1 expression as a biomarker for the clinical benefit of tislelizumab in gastric/gastroesophageal junction adenocarcinoma
  10. 195310
    “…Duchenne muscular dystrophy (DMD) is a lethal disease caused by X-linked mutations in the dystrophin gene. Dystrophin deficiency results in progressive degeneration of cardiac, respiratory and skeletal muscles leading to premature death due to cardiopulmonary complications. …”
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    Long-Term Biodistribution and Safety of Human Dystrophin Expressing Chimeric Cell Therapy After Systemic-Intraosseous Administration to Duchenne Muscular Dystrophy Model
  11. 195311
    “…For instance, strain L15527, representing subtype3 (st3), harbours an exceptionally high number of ICEs, which results in a bigger-sized genome than all those previously described and could be associated with the propensity of st3 to gain and fix mutations through chromosomal transfer mechanisms. …”
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    Genomic features of Mycoplasma bovis subtypes currently circulating in France
  12. 195312
    “…RP-3500 is highly selective for ATR with 30-fold selectivity over mammalian target of rapamycin (mTOR) and more than 2,000-fold selectivity over ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase (DNA-PK), and phosphatidylinositol 3-kinase alpha (PI3Kα) kinases. …”
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    RP-3500: A Novel, Potent, and Selective ATR Inhibitor that is Effective in Preclinical Models as a Monotherapy and in Combination with PARP Inhibitors
  13. 195313
    “…However, efficacy was largely observed in entities with paradigmatic oncogenic drivers, in particular with BRAF mutations. Further research on biomarker-informed molecular matched therapies is urgently necessary. …”
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    Molecular matched targeted therapies for primary brain tumors—a single center retrospective analysis
  14. 195314
    “…BACKGROUND: Mutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (SCN1A) gene have been associated with epilepsy. …”
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    Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study
  15. 195315
    “…A well-known feature of RNA viruses is their high mutational rate, particularly in specific gene regions. …”
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    An in silico pipeline approach uncovers a potentially intricate network involving spike SARS-CoV-2 RNA, RNA vaccines, host RNA-binding proteins (RBPs), and host miRNAs at the cellular level
  16. 195316
    “…SOX3 duplication may cause sex reversal, and all 46,XX SRY-negative males should be screened for SOX3 mutations. Gonadal biopsy is recommended to evaluate ovarian and testicular tissue development. …”
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    Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review
  17. 195317
    “…The statistical significance of both identified cases and recovered return cases on log(10) viral RNA copies/L in wastewater indicates the importance of including both types of clinical data in wastewater-based epidemiology (WBE) research. Genetic mutations associated with variants of concern (VOCs) were also monitored. …”
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    Building-level wastewater surveillance of SARS-CoV-2 is associated with transmission and variant trends in a university setting
  18. 195318
    “…The 5XFAD mouse model over-expresses human amyloid precursor protein (APP) and presenilin 1 (PS1) harboring five familial AD mutations. It is unclear how the expression of these mutant proteins affects early developing brain circuits. …”
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    Early impairment of cortical circuit plasticity and connectivity in the 5XFAD Alzheimer’s disease mouse model
  19. 195319
    “…RESULTS: A total of 295 sequences were obtained, among which 11 HIV-1 strain types were detected and CRF08_BC (62.0%, 183/295) was the predominant one. Drug resistance mutations (DRMs) were detected in 42.4% (125/295) of the sequences. …”
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    HIV-1 pretreatment drug resistance and genetic transmission network in the southwest border region of China
  20. 195320
    “…Assessment of additional ALT-associated parameters clarified the TMM status of the remaining seven cases with high likelihood: ALT-positive tumors had higher TERRA expression, longer telomeres, more telomere insertions, a characteristic pattern of telomere variant repeats, and were associated with ATRX mutations. CONCLUSIONS: We here propose a workflow to reliably detect TMM in neuroblastoma. …”
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    Reliable assessment of telomere maintenance mechanisms in neuroblastoma
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