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  1. 195241
    “…Furthermore, we found that mutations in DZIP1 were correlated with a good prognosis in GC patients. …”
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    DZIP1 Expression as a Prognostic Marker in Gastric Cancer: A Bioinformatics-Based Analysis
  2. 195242
    “…BACKGROUND: The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. …”
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    LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients
  3. 195243
    “…Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism.…”
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    A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
  4. 195244
    “…In spite of their high conservation, they contained some mutational hotspots, which can be potentially exploited as high-resolution DNA barcodes for species discrimination. …”
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    The chloroplast genomes of four Bupleurum (Apiaceae) species endemic to Southwestern China, a diversity center of the genus, as well as their evolutionary implications and phylogenetic inferences
  5. 195245
    “…We identified several modifications that reduce bPAC dark activity. Mutating a phenylalanine to tyrosine at residue 198 substantially decreased dark cyclase activity, which increased 7000-fold when illuminated. …”
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    PACmn for improved optogenetic control of intracellular cAMP
  6. 195246
    “…Mobocertinib (TAK-788) is a potent irreversible tyrosine kinase inhibitor (TKI) designed to target human epidermal growth factor receptor 2 (HER2/ERBB2) exon 20 insertion mutations. However, the function of mobocertinib on HER2 exon 20 insertion–mutant lung cancer is still unclear. …”
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    Targeting HER2 Exon 20 Insertion–Mutant Lung Adenocarcinoma with a Novel Tyrosine Kinase Inhibitor Mobocertinib
  7. 195247
    “…This open-label, non-randomized, phase 1 study of talazoparib investigated the safety, pharmacokinetics, and preliminary antitumor activity in Japanese patients with locally advanced or metastatic solid tumors, regardless of mutations in DNA damage repair-related genes, who are resistant to/ineligible for standard therapies. …”
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    Safety, pharmacokinetics, and preliminary efficacy of the PARP inhibitor talazoparib in Japanese patients with advanced solid tumors: phase 1 study
  8. 195248
    “…In this study, we analysed the evolution of clinical and MRI findings and long-term outcome of patients with GLRX5 mutations. METHODS: Four patients from three Australian families of Lebanese descent were identified. …”
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    GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
  9. 195249
    “…This is of particular importance in schools and public areas of unavoidable access. New viral mutations may increase infectivity and require even better methods to identify areas of potential hazards. …”
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    Cold traps as reliable devices for quantitative determination of SARS-CoV-2 load in aerosols
  10. 195250
    “…BACKGROUND: Neuronal ceroid lipofuscinoses, (NCLs or Batten disease) are a group of inherited, early onset, fatal neurodegenerative diseases associated with mutations in 13 genes. All forms of the disease are characterized by lysosomal accumulation of fluorescent storage material, as well as profound neurodegeneration, but the relationship of the various genes’ function to a single biological process is not obvious. …”
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    Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression
  11. 195251
    “…Proximity ligation assays were used to quantify CB(2)-NMDA heteromer expression in mouse primary cultures and in the brain of APP(Sw/Ind) transgenic mice, an Alzheimer’s disease model expressing the Indiana and Swedish mutated version of the human amyloid precursor protein (APP). …”
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    N-Methyl-D-aspartate (NMDA) and cannabinoid CB(2) receptors form functional complexes in cells of the central nervous system: insights into the therapeutic potential of neuronal and microglial NMDA receptors
  12. 195252
    “…Exploratory evaluations correlated clinical outcomes with tumor programmed death-ligand 1 (PD-L1) expression and tumor mutational burden (TMB). RESULTS: The objective response rate in the radiologically evaluable population was 36% (12/33 patients) and in the intention-to-treat population was 28% (12/43 patients), with additional 7 patients obtaining SD leading to a disease control rate of 58% and 44%, respectively. …”
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    Combination immunotherapy with nivolumab and ipilimumab in patients with rare gynecological malignancies: results of the CA209-538 clinical trial
  13. 195253
    “…Genes of the SH3 and multiple ankyrin repeat domains (SHANK) family encode crucial scaffolding proteins (SHANK1-3) of excitatory synapses and other macromolecular complexes. SHANK gene mutations are highly associated with ASD and more specifically the Phelan-McDermid syndrome (PMDS), which is caused by heterozygous 22q13.3-deletion resulting in SHANK3-haploinsufficiency, or by SHANK3 missense variants. …”
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    Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
  14. 195254
    “…METHODS: We retrospectively analysed the clinical data of 5 rare cases of CAH admitted to our hospital and summarized their clinical manifestations, auxiliary examinations, diagnosis and mutational spectrum. RESULTS: After gene sequencing, complex heterozygous variants were detected in all patients (2 cases were lipoid congenital adrenal hyperplasia (LCAH), 11β-hydroxylase deficiency (11β-OHD), 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD deficiency) and P450 oxidoreductase deficiency (PORD) each accounted for 1 case), which were consistent with their clinical manifestations. …”
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    Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
  15. 195255
    “…Microbiome analyses of plaque samples taken at baseline were performed using Wilcoxon signed ranks tests for calculation of alpha diversity, per mutational multivariate analysis of variance for beta diversity, and receiver operating characteristic curves for prediction of outcomes based on machine learning models. …”
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    Advanced Dental Cleaning is Associated with Reduced Risk of COPD Exacerbations – A Randomized Controlled Trial
  16. 195256
    “…METHODS: Participants with HIV-1 RNA ≤500 000 copies/ml and no major viral resistance mutations to nucleoside reverse transcriptase inhibitors, nonnucleoside reverse transcriptase inhibitors, or protease inhibitors were randomized 1:1 to once-daily DTG + 3TC or DTG + TDF/FTC. …”
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    Three-year durable efficacy of dolutegravir plus lamivudine in antiretroviral therapy – naive adults with HIV-1 infection
  17. 195257
    “…BACKGROUND: Loss-of-function mutations or abnormal expressions of E ubiquitin ligases contributes to tumorigenesis. …”
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    TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer
  18. 195258
    “…Two neonates were detected early with GLA mutations in the hospital, with a yield of detection of 0.14% (2/1420). …”
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    Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children’s Hospital in China
  19. 195259
    por Ozger, Zeynep Banu, Cihan, Pınar
    Publicado 2022
    “…We hope that the developed epitope prediction method will help design effective vaccines and drugs against future outbreaks of the coronavirus family, especially SARS-CoV-2 and its possible mutations.…”
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    A novel ensemble fuzzy classification model in SARS-CoV-2 B-cell epitope identification for development of protein-based vaccine
  20. 195260
    “…Although there were immense improvements in the survival of patients with osteosarcoma in the past 30 years, targetable mutations and agents of osteosarcomas still have been generally not satisfactory. …”
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    Profiles of immune cell infiltration and immune-related genes in the tumor microenvironment of osteosarcoma cancer
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