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  1. 197981
    “…BACKGROUND: The emergence of artemisinin resistance in Southeast Asia and Plasmodium falciparum kelch13 propeller gene mutations in sub-Saharan African pose the greatest threat to global efforts to control malaria. …”
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    Efficacy and safety of dihydroartemisinin–piperaquine versus artemether–lumefantrine for treatment of uncomplicated Plasmodium falciparum malaria in Ugandan children: a systematic review and meta-analysis of randomized control trials
  2. 197982
    “…BACKGROUND: A comprehensive understanding of DNA adducts, one of the most plausible origins of cancer mutations, is still elusive, especially in human tissues in clinical settings. …”
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    Mass spectrometric profiling of DNA adducts in the human stomach associated with damage from environmental factors
  3. 197983
    “…At 23 weeks gestational age, DNA analysis revealed fetus was compound heterozygous for both mutations which is most commonly associated with either SV or SW phenotype. …”
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    Pitfalls of Prenatal Diagnosis guiding Postnatal Management in Congenital Adrenal Hyperplasia(CAH)
  4. 197984
    “…If mtp53 is converted into the active wild-type protein (wtp53), tumor suppressor functions are recovered. Most p53 mutations occur in the DNA-binding domain, causing normal regulation of p53 target genes involved in apoptosis, cell-cycle arrest, and angiogenesis to be blocked. …”
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    Inhibiting Growth of Human Triple-Negative Breast Cancer Cells by Activating Mutant p53 Protein Alone or in Combination With a Phosphatidylserine-Targeting Antibody
  5. 197985
    “…Background: Cherubism, caused by autosomal dominant mutations in the SH3BP2 gene, is characterized by increased bone resorption with development of bilateral fibro-osseous lesions limited to the maxilla and mandible. …”
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    Rebound Hypercalcemia After Denosumab Therapy in a Child With Cherubism
  6. 197986
    “…High-grade serous ovarian cancer (HGSOC) is a heterogeneous disease for which there currentlyis no cure. Because p53 is mutated in >90% of all ovarian cancer, we studied specific gain-of-function (GOF) p53 mutants and steroid hormones for tumor morphology and metastasis in vivo. …”
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    P53 Gain-of-Function Mutants and Steroids in Ovarian Cancer Cell Metastasis
  7. 197987
    “…Through specific ad hoc developed ELISA assays not yet available on the market, the circulating PD-1, PD-L1, BTN3A1, and pan-BTN3As levels were examined in 30 c-KIT exon 11-mutated mGIST patients, prior to imatinib therapy. …”
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    Prognostic Role of Plasma PD-1, PD-L1, pan-BTN3As and BTN3A1 in Patients Affected by Metastatic Gastrointestinal Stromal Tumors: Can Immune Checkpoints Act as a Sentinel for Short-Term Survival?
  8. 197988
    “…Comparing with the reference genome of Nipponbare, stop or frameshift mutations in the exon of the three putative genes LOC_Os07g36830, LOC_Os07g36900 and LOC_Os07g36910 encoding F-box domain-containing proteins may be the candidate genes for qGL7. …”
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    Validation of a QTL for Grain Size and Weight Using an Introgression Line from a Cross between Oryza sativa and Oryza minuta
  9. 197989
    “…The accumulation of the mutational burden of genes and cellular DNA damage caused by the risk factors (e.g., exposure to ultraviolet radiation) contribute to the aberrant proliferation of keratinocytes and the formation of a cSCC. …”
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    Identifying an lncRNA-Related ceRNA Network to Reveal Novel Targets for a Cutaneous Squamous Cell Carcinoma
  10. 197990
    “…Nonetheless, a chronic metabesity state or functional mutations will result in lower levels of HMG20A, failure to promote reactive astrogliosis and increase susceptibility of neurons to stress-induced apoptosis. …”
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    The metabesity factor HMG20A potentiates astrocyte survival and reactive astrogliosis preserving neuronal integrity
  11. 197991
    “…Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is another hereditary autosomal dominant cancer syndrome which, if proven to be caused by germline mutations in mismatch repair genes (MMR)—MLHL, MSH2, MSH6, PMS2, and EPCAM—is called Lynch syndrome (LS). …”
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    Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors—A Cohort Study
  12. 197992
    “…Background: Advanced age, medical co-morbidities and a pro-inflammatory immunologic profile are associated with severe COVID-19. Acquired somatic mutations in hematopoietic stem cells (clonal hematopoiesis or CH) are common in elderly individuals. …”
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    Clonal Hematopoiesis and COVID-19 Severity in Cancer Patients
  13. 197993
    “…Multifocality was neuroradiologically assessed and defined as at least two independent contrast-enhancing foci in the MRI T1 contrast-enhanced sequence. IDH mutational status and MGMT methylation status were assessed from histopathology records. …”
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    Multifocal high-grade glioma radiotherapy safety and efficacy
  14. 197994
    “…No other covariates were significant on multivariate logistic regression. Mutational analysis demonstrated focal NF1 copy number loss in PN and MPNST patient plasma but not in healthy controls. …”
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    Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study
  15. 197995
    Publicado 2021
    “…There was no significant difference in the incidence of point mutations in ABL kinase among the three groups (P=0.652). …”
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    伴Ph阳性附加染色体异常慢性髓性白血病的生物学特征及疗效分析
  16. 197996
    “…More importantly, fibroblasts and cerebrospinal fluid samples from Parkinson disease patients carrying loss-of-function PRKN mutations show increased extracellular mitochondria compared to control subjects, providing evidence in a clinical context. …”
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    Alternative mitochondrial quality control mediated by extracellular release
  17. 197997
    “…AIMS/HYPOTHESIS: The individual risk of progression of diabetic peripheral neuropathy is difficult to predict for each individual. Mutations in proteins that are responsible for the process of myelination are known to cause neurodegeneration and display alteration in experimental models of diabetic neuropathy. …”
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    Neuron-specific biomarkers predict hypo- and hyperalgesia in individuals with diabetic peripheral neuropathy
  18. 197998
    “…BACKGROUND: A first-in-human, randomized pilot phase II clinical trial combining vaccines targeting overexpressed, non-mutated tumor blood vessel antigens (TBVA) and tyrosine kinase inhibitor dasatinib was conducted in human leukocyte antigen (HLA)-A2(+) patients with advanced melanoma. …”
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    Dendritic cell vaccines targeting tumor blood vessel antigens in combination with dasatinib induce therapeutic immune responses in patients with checkpoint-refractory advanced melanoma
  19. 197999
    “…METHODS: Enrollment criteria permitted NNRTI resistance (-R), PI-R, and certain NRTI-R (M184V/I allowed; K65R/E/N, ≥3 thymidine analog mutations [TAMs], or T69-insertions excluded) and excluded known primary INSTI-R. …”
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    629. High Efficacy of Bictegravir/Emtricitabine/Tenofovir Alafenamide (B/F/TAF) in African American Adults with HIV Including Those with Preexisting Resistance, Viral Blips, and Suboptimal Adherence
  20. 198000
    “…Sub‐consensus3 LUAD patients were with low overall survival and were with high TP53 mutations. Similarly, LUAD cell lines were also divided into three sub‐consensuses by NMF method, and sub‐consensus2 cell lines were resistant to EGFR inhibitors. …”
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    Nonnegative matrix factorization‐based bioinformatics analysis reveals that TPX2 and SELENBP1 are two predictors of the inner sub‐consensuses of lung adenocarcinoma
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