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  1. 197961
    por Geisler, John G.
    Publicado 2019
    “…Is there a relationship to a buildup of mutations that are sequestered over time due to ROSs exceeding the rate of repair? …”
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    2,4 Dinitrophenol as Medicine
  2. 197962
    “…Serial ctDNA analyses revealed disease recurrence up to 16.5 months ahead of standard-of-care radiologic imaging (mean, 8.7 months; range, 0.8-16.5 months). Actionable mutations were identified in 81.8% of the ctDNA-positive relapse samples. …”
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    Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer
  3. 197963
    “…Targeted oncotherapy is one of the standard treatment for progressive stage 4 melanoma, and BRAF inhibitors (e.g. vemurafenib, dabrafenib) combined with MEK inhibitor (e.g. trametinib) can effectively counter BRAFV600E-mutated melanomas. Compared to conventional chemotherapy, targeted BRAFV600E inhibition achieves a significantly higher response rate. …”
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    Clinical protein science in translational medicine targeting malignant melanoma
  4. 197964
    “…Interestingly, univariate analysis showed that after rituximab maintenance OS was not affected by IGHV status (mutated vs. unmutated OS: 85.7% alive at 7.2 years vs. 79.6% alive at 7.3 years, respectively). …”
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    High prognostic value of measurable residual disease detection by flow cytometry in chronic lymphocytic leukemia patients treated with front-line fludarabine, cyclophosphamide, and rituximab, followed by three years of rituximab maintenance
  5. 197965
    “…Furthermore, we determined the effect of total number of pregnancies and total parity per woman, infertility and blood pressure treatment, presence of trombophilic gene mutations, current smoking of cigarettes, and current hormonal contraceptive use on the vascular endothelial function. …”
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    Evaluation of Vascular Endothelial Function in Young and Middle-Aged Women with Respect to a History of Pregnancy, Pregnancy-Related Complications, Classical Cardiovascular Risk Factors, and Epigenetics
  6. 197966
    “…Urine 24-hour calcium was 244.8 mg. Testing for causal mutations of hypophosphatemic rickets and osteogenesis imperfecta was negative. …”
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    SAT-385 A Normal FGF23 Does Not Preclude Tumor Induced Osteomalacia (TIO)
  7. 197967
    “…In general, it is caused by inactivating mutations on AR gene (Xq12 - OMIM * 313700), therefore it presents an X-linked recessive inheritance. …”
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    SUN-086 Pilot Study Using Aromatase Inhibitor in Puberty of Boys With Partial Androgen Insensitivity: Report of Three Cases
  8. 197968
    “…Reference: (1) Hovden, S., Rejnmark, L., Ladefoged, S., & Nissen, P. (2017). AP2S1 and GNA11 mutations – not a common cause of familial hypocalciuric hypercalcemia, European Journal of Endocrinology, 176(2), 177-185.…”
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    SAT-340 Familial Hypocalciuric Hypercalcemia Due to a C.571G>A (p.Glu191Lys) Variant in the GNA11 Gene
  9. 197969
    “…To date, no genetic defects responsible for isolated human microtia has been reported except for mutations in HOXA2. Here we recruited five Chinese families with isolated bilateral concha-type microtia, and attempt to identify the underlying genetic causes. …”
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    Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia
  10. 197970
    “…RESULTS: The NAMDC Registry has confirmed the clinical and genetical heterogeneity of mitochondrial diseases due to primary mutations in mitochondrial DNA or nuclear DNA. During the 8 years of this NIH-U54 grant, this consortium, acting in close collaboration with a patient advocacy group, the UMDF, has effectively addressed these complex diseases. …”
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    The North American mitochondrial disease registry
  11. 197971
    “…Quite significantly, CatD-KO mice exhibited ~ 30% increases in Aβ42/40 ratios, comparable to those induced by presenilin mutations. Mechanistically, the perturbed Aβ42/40 ratios were attributable to pronounced differences in the kinetics of degradation of Aβ42 vis-à-vis Aβ40. …”
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    Cathepsin D regulates cerebral Aβ42/40 ratios via differential degradation of Aβ42 and Aβ40
  12. 197972
    “…Through the analysis of a large set of viral genomic sequences, the current review provides a comprehensive and specific map of conserved regions across human coronavirus proteins which are essential for virus replication and thus with no or very limited tendency to mutate. Hence, these represent key druggable targets for novel compounds against this virus family. …”
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    Current status of antivirals and druggable targets of SARS CoV-2 and other human pathogenic coronaviruses
  13. 197973
    “…Confirmatory studies were performed in mutated mice lacking miR-155 (miR-155(−/−)) RESULTS: Lm infection significantly increased the numbers of brain CD3(+)CD8(+) lymphocytes at 28d p.i. …”
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    Neuroinvasive Listeria monocytogenes infection triggers accumulation of brain CD8(+) tissue-resident memory T cells in a miR-155-dependent fashion
  14. 197974
    “…The roles of immune indicators (such as IL-6, TNF-α, and fgl2), gene polymorphisms, HBV genotypes, and gene mutations as early clinical indicators. 2. Intensive Care Unit monitor patients with severe hepatitis include intracranial pressure, infection, blood dynamics, respiratory function, renal function, blood coagulation function, nutritional status and blood purification process. …”
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    Treatment of AECHB and Severe Hepatitis (Liver Failure)
  15. 197975
    “…Antimicrobial resistance genes and/or chromosomal mutations were identified using the ResFinder Database (version 3.2). …”
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    849. Whole Genome Sequencing Analysis of Klebsiella pneumoniae Isolates Reveals Diversity in Genetic Antibiotic Resistance Patterns
  16. 197976
    “…METHODS: Enrollment criteria permitted prior treatment failure, except on an INSTI-containing regimen, and allowed documented resistance to NNRTIs, PIs and/or NRTIs, except for K65R/E/N, ≥ 3 thymidine analog mutations (TAMs), or T69-insertions; primary INSTI resistance (-R) was excluded. …”
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    109. Preexisting Resistance and Week 48 Virologic Outcomes After Switching to B/F/TAF in African American Adults with HIV
  17. 197977
    “…BACKGROUND: Differentially-methylated regions (DMRs) are characteristic of colorectal cancer (CRC) and some occur more frequently than common mutations. This study aimed to evaluate the clinical utility of assaying circulating cell-free DNA for methylation in BCAT1, IKZF1 and IRF4 for detection of CRC. …”
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    Evaluation of a panel of tumor-specific differentially-methylated DNA regions in IRF4, IKZF1 and BCAT1 for blood-based detection of colorectal cancer
  18. 197978
    “…This feature, along with a documented heterogeneous mutational spectrum, makes it difficult to categorize G6PD variants according to current WHO classification and precludes the prediction of complications such as AHA, which can occur even with > 10% of residual enzymatic activity and/or be associated with the common and mild G6PD A(−376G/968C) and G6PD A(−202A/376G) haplotypes.…”
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    Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
  19. 197979
    “…Mutations/deficiency of TDRD7, encoding a tudor domain protein involved in post-transcriptional gene expression control, causes early onset cataract in humans. …”
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    Genome-Wide Analysis of Differentially Expressed miRNAs and Their Associated Regulatory Networks in Lenses Deficient for the Congenital Cataract-Linked Tudor Domain Containing Protein TDRD7
  20. 197980
    “…Gain-of-function FMS-like tyrosine kinase 3 (FLT3) mutations are present in 30–40% of AML patients and serve as an attractive therapeutic target. …”
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    Expression of a recombinant FLT3 ligand and its emtansine conjugate as a therapeutic candidate against acute myeloid leukemia cells with FLT3 expression
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