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  1. 198021
    “…MECP2 is encoded by an X-linked gene (chromosome Xq28) with high expression in the brain, including the hypothalamic region. Loss-of-function mutations in MECP2 are usually associated with Rett syndrome, a rare genetic disorder characterized by normal early development followed by regression of acquired skills, such as purposeful hand movements and the ability to communicate, repetitive hand stereotypies, slowed brain growth, seizures, and intellectual disability with female predominance. …”
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    RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects
  2. 198022
    “…Occasional case reports have highlighted SDHx mutations in isolated pituitary tumors (including one case of Cushing's disease, CD). …”
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    RF01 | PMON167 Isolated Cushing's Disease Associated With Rare Germline SDHx Variants
  3. 198023
    “…BACKGROUND: Congenital leptin deficiency (CLD) is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin gene. Monogenic obesity disorders, including CLD, have been reported to be prevalent among children with severe obesity in a consanguineous Pakistani population. …”
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    RF24 | PSUN127 Congenital Leptin Deficiency: Metabolic, Reproductive, and Psychological Impacts of Therapy
  4. 198024
    “…BACKGROUND: Achondroplasia (ACH), the most common non-lethal form of skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. …”
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    PSAT106 Infigratinib in Children with Achondroplasia: Design of the PROPEL, PROPEL2 and PROPEL OLE Studies
  5. 198025
    por Zare, Ahmad, Singh, Ishita
    Publicado 2022
    “…INTRODUCTION: McArdle's disease (glycogen storage disease type V) is an autosomal recessive disease caused by mutations in the gene encoding for the muscle isoform of glycogen phosphorylase (PYGM). …”
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    ODP208 Hypoglycemia as a Presenting Feature of McArdle's Disease
  6. 198026
    “…The patient was unfortunately not eligible for any ongoing local clinical trials on RET-mutated cancer therapies. After extensive discussion with the patient, a palliative approach was pursued. …”
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    PSAT387 An Unusual Case of Sporadic Metastatic Medullary Thyroid Cancer Without a Primary Tumor Presenting with Paraneoplastic Cushing's Syndrome
  7. 198027
    “…However, adjuvants sometimes trigger undesirable autoimmune effects, especially in genetically predisposed individuals such as those with DRB1 allele mutations. The mRNA vaccine may exert "self-adjuvant" properties through activation of tumor necrosis factor, interferon-alpha and other cytokines secreted by immune cells or cross reactivity of mRNA targeting CoV-2 spike protein with thyroid tissue antigens. …”
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    RF35 | PSAT298 Subacute Thyroiditis Following SARS-CoV-2 mRNA Vaccine
  8. 198028
    “…Finally, we screened AZD6738, an ataxia telangiectasia mutated and rad3-related (ATR) inhibitor, based on the expression of ARPC1B. …”
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    ARPC1B promotes mesenchymal phenotype maintenance and radiotherapy resistance by blocking TRIM21-mediated degradation of IFI16 and HuR in glioma stem cells
  9. 198029
    “…Each isolate was also characterized for mutations associated with antimalarial resistance in Pfcrt, Pfmdr1, Pfpm2/3, Pfdhfr, and Pfdhps genes using real-time PCR and Agena MassARRAY platform. …”
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    Impact of parasite genomic dynamics on the sensitivity of Plasmodium falciparum isolates to piperaquine and other antimalarial drugs
  10. 198030
    “…Information on genomic alterations (i.e., somatic mutations/fusions and copy number alterations) determined in matched plasma samples was available from previous studies. …”
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    Longitudinal monitoring of cell-free DNA methylation in ALK-positive non-small cell lung cancer patients
  11. 198031
    “…BACKGROUND: Azole resistance in Aspergillus fumigatus (AFM) is mainly associated with mutations in cyp51A and its promoter region or its homologue cyp51B. …”
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    868. In Vitro Activity of Isavuconazole and Other Mould-Active Triazoles Against Aspergillus fumigatus With and Without cyp51 Alterations
  12. 198032
    “…The following nsp12 mutations emerged in the RDV treatment group and were successfully phenotyped as clinical isolates or SDMs with low to no fold change in RDV susceptibility: A16V (0.8-fold), P323L+V792I (2.2-fold), C799F (2.5-fold), K59N (1.0-fold), and K59N+V792I (3.4-fold). …”
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    1149. Resistance Analyses of Patient Viral Samples from the Remdesivir Phase 3 Adaptive COVID-19 Treatment Trial-1 (ACTT-1)
  13. 198033
    “…Reported here are results for the sub-group of TN PLWH that were initiated DTG/3TC as part of a T&T strategy, defined as clinician attestation of treatment initiation shortly after diagnosis and in the absence of known lab values for HIV-1 RNA viral load, CD4 cell count and HIV-1 resistance mutations. RESULTS: From an overall sample of 469 PLWH on DTG-based 2DR, 318 received DTG/3TC, of whom, 126 were TN and 192 were stable switch. …”
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    1279. Real World Treatment Experience of Treatment-Naïve People with HIV who Initiated Treatment with Single Tablet Dolutegravir/Lamivudine in a Test and Treat setting in the US.
  14. 198034
    “…TRAX containing double mutations with Q223A and Q219A lost its ability to interact with GHCer in both MD simulation and Biacore assays. …”
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    Conformational alteration in glycan induces phospholipase Cβ1 activation and angiogenesis
  15. 198035
    “…It is already well recognized that immunization against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a precondition for blocking mutations and prevent the emergence of variants. The aim of the study was to investigate the possible relationship between COVID-19 vaccines and the commonly used disease-related blood biomarkers. …”
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    Alterations in Laboratory Parameters Related to Disease Severity in Vaccinated Patients Against SARS-CoV-2
  16. 198036
    “…Here, we profiled the clinical characteristics, mutational landscapes and tumor immune microenvironment of AM patients to gain insights into disease characteristics and potential treatment strategies. …”
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    Prognostic value of genetic aberrations and tumor immune microenvironment in primary acral melanoma
  17. 198037
    “…Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects, including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse neurological manifestations. Biallelic mutations in GBA1 reduce lysosomal acid β-glucosidase activity, and its substrates, glucosylceramide and glucosylsphingosine, accumulate. …”
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    Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
  18. 198038
    “…MATERIALS AND METHODS: We analyzed metabolic networks measured by interregional correlation coefficients (ICCs) of FDG–PET scans in WT mice and in mice with mutations in progranulin (Grn) or triggering receptor expressed on myeloid cells 2 (Trem2) knockouts ((−/−)) as well as in double mutant Grn(−/−)/Trem2(−/−) mice. …”
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    Depletion and activation of microglia impact metabolic connectivity of the mouse brain
  19. 198039
    “…RESULTS: FGFR3 alterations (aFGFR3), including recurrent mutations and fusions, accounted for 44% of non-muscle invasive bladder cancer (NMIBC) and 15% of muscle-invasive bladder cancer (MIBC). …”
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    The Impact of FGFR3 Alterations on the Tumor Microenvironment and the Efficacy of Immune Checkpoint Inhibitors in Bladder Cancer
  20. 198040
    “…Overall 65% (85/130) of P. falciparum infections had Pfkelch13 propeller mutations which increased over time and recrudescence occurred almost exclusively in them; risk ratio 9.42 (95% CI 1.30–68.29). …”
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    A randomized controlled trial of dihydroartemisinin-piperaquine, artesunate-mefloquine and extended artemether-lumefantrine treatments for malaria in pregnancy on the Thailand-Myanmar border
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