“…In the context of known immuno-oncology biomarkers such as tumor mutational burden and interferon-associated gene expression, a comparison of adenosine-related gene signatures associated with clinical response indicates an underlying biology related to immunosuppression, angiogenesis, and T cell inflammation. …”
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“…CASE REPORT - DISCUSSION: Hypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the alkaline phosphatase liver type (ALPL) gene, localized on the chromosome region 1p36.1–34, encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). …”
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“…Future strategies may include targeting of signalling pathways and driver mutations.…”
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“…Moreover, it has been proposed that SAMHD1 might fulfill the requirements of a driver gene in tumor development or might promote a so-called mutator phenotype. Here, we show that low SAMHD1 expression tumors show better prognosis in breast, ovarian, and lung advanced cancer. …”
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“…Through week 240, 16/32 participants (50.0%) experienced virologic failure, including seven who developed treatment-emergent RPV resistance-associated mutations (RAMs [frequently E138K]): all 7 had ≥1 treatment-emergent NRTI RAM. …”
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“…Premature senescence was inhibited by the inhibitors of ataxia telangiectasia mutated (ATM) or ataxia telangiectasia and Rad3–related (ATR), and the p53 signaling pathway was activated by Nutlin-3. …”
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“…The cBioportal database showed that 56 patients (31%) had the above core gene mutations: CRIP2 (8%), FOS (10%), and HOXA10 (17%). …”
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“…Due to the extensive number of mutations, this variant has high level of immune evasion, which drastically reduced the efficacy of existing antibodies and vaccines. …”
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“…The DDR includes activation of ATM (ataxia telangiectasia mutated), ATR (ATM- and RAD3-related), and DNA-PKcs (DNA-dependent protein kinase catalytic subunit). …”
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“…We discovered a regulator of a bacterial immunosuppressive pathway, which, when mutated in Bordetella spp., allows for rapid clearance of infection and subsequent generation of protective immunity for at least 15 months. …”
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“…Bioinformatics tools may help to predict the effect of mutations in the spike protein on the binding to the ACE2 receptor and the infectivity of the strain. …”
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“…However, two nonsense mutations caused by a frameshift in agrC were identified in two ST22-MSSA isolates, resulting in a significant attenuation of virulence. …”
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“…In addition, sequence mutations on miR-1269a and miR-1269b can affect their regulation of cancer. …”
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“…Besides, we presented a novel bioinformatics pipeline that uncovered the impacts of SLC7A11 on cancer prognosis, tumor mutational burden (TMB), immune cell infiltration in tumor microenvironment, and drug responses. …”
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“…The dual specificity phosphatase (DUSP) family has catalytically inactive members, called pseudophosphatases. They have mutations in their catalytic motifs that render them enzymatically inactive. …”
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“…Methods: Patients aged ≥ 18 years with histological diagnosis of primary HER2-positive BC, either amplified or mutated, and newly-diagnosed LM were enrolled. Coexistence of BM that has or has not received radiotherapy, as well as prior chemotherapy, hormone therapy, or monoclonal HER2-targeting antibodies or antibody–drug conjugates, were allowed, with the exclusion of lapatinib. …”
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“…Risk stratification and triage recommendations focused on prioritizing high-risk patients with an abnormal or suspicious result on the previous screening test, patients in certain age groups and sex, patients with a personal medical or family cancer history, patients that are currently symptomatic, and patients that are predisposed to hereditary cancers and cancer-causing mutations. Other recommended strategies included identifying areas facing the most disparities, creating algorithms and using artificial intelligence to create cancer risk scores, leveraging in-person visits to assess cancer risk, and providing the option of open access screenings where patients can schedule screenings and can be assigned a priority category by health care staff. …”
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“…Employing the gag-3′ PRLS assay, we found that 26% to 51% of plasma-derived genomes are genetically-defective, largely as a result of frameshift mutations and deletions. These genetic defects were concentrated in the env region compared to gag and pol, likely a reflection of viral immune escape in env during untreated HIV-1 infection. …”
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“…Importantly, tumor samples from a subset of poor prognosis CLL patients, with mutations in a gene called BIRC3, showed elevated p52 expression and were particularly sensitive to NIK inhibition. …”
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“…When these sites were mutated, p32 was resistant to degradation in the presence of siArgII, and endothelial function was impaired. …”
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