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  1. 198001
    “…Despite its high level of heritability, few causative genes have been identified, and mutations in known genes are only responsible for a small portion of clubfoot heritability. …”
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    Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion
  2. 198002
    “…BACKGROUND: With the looming threat of recurrent waves of coronavirus disease-2019 (COVID-19) in the presence of mutated strains, it is of paramount importance to understand the demographic and clinical attributes of COVID-19 related mortalities in each pandemic wave. …”
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    Descriptive Epidemiology of COVID-19 Deaths during the First Wave of Pandemic in India: A Single-center Experience
  3. 198003
    “…In BRCA1 (Breast Cancer gene 1) - or BRCA2-wild type (BRCAwt) HGSOC patients, resistance and progressive disease occur earlier and more often than in mutated BRCA. Identification of biomarkers helpful in predicting response to first-line chemotherapy is a challenge to improve BRCAwt HGSOC management. …”
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    Identification of a novel gene signature predicting response to first-line chemotherapy in BRCA wild-type high-grade serous ovarian cancer patients
  4. 198004
    “…It has been implicated in host defense and cancer biology, but signaling mechanisms downstream of CD38 remain unclear. Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common genetic cause of Parkinson disease; it is also a risk factor for Crohn disease, leprosy, and certain types of cancers. …”
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    LRRK2 is required for CD38-mediated NAADP-Ca(2+) signaling and the downstream activation of TFEB (transcription factor EB) in immune cells
  5. 198005
    “…Furthermore, PIK3CA and DNMT3A mutations (p = 0.032 and 0.039, respectively) were more frequently found in older patients with stage II–III CRC compared to their younger counterparts. …”
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    A Prediction Model for Tumor Recurrence in Stage II–III Colorectal Cancer Patients: From a Machine Learning Model to Genomic Profiling
  6. 198006
    “…BACKGROUND: Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. …”
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    Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
  7. 198007
    “…BACKGROUND: With the widespread of Coronavirus Disease 2019 pandemic, in spite of the newly emerging vaccines, mutated strains remain a great obstacle to supportive and preventive measures. …”
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    Potential effect of amniotic fluid-derived stem cells on hyperoxia-induced pulmonary alveolar injury
  8. 198008
    “…More studies on the persistence of immunity and the perspective of Covid 19 mutations will help determine the long-term vaccine booster policy.…”
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    COVID-19 Prevalence in UNIVI Group Nursing Homes and Multilevel Geriatric Hospitals: Epidemiological Study of Immunological Status with Rapid Serological Tests for Diagnostic Guidance and Follow Up
  9. 198009
    “…Outcomes were drug resistance associated mutations (DRAM) and CD4 cell counts levels. RESULTS: Among 6530 patients, 58.0% patients achieved VL less than 50 copies/mL, 27.8% with VL between 50 and 999 copies/mL (8.6% experienced LLV), and 14.2% had a VL ≥ 1000 copies/mL. …”
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    Impact of low-level viremia with drug resistance on CD4 cell counts among people living with HIV on antiretroviral treatment in China
  10. 198010
    “…Of the 13 recrudescences, 12 were in 174 (57%) of 305 infections with pfkelch13 mutations indicating artemisinin resistance, for which 42-day efficacy was noted in 89 (96%) of 93 infections with artemether–lumefantrine plus amodiaquine versus 73 (90%) of 81 infections with artemether–lumefantrine alone; HR for recrudescence 0·44 (95% CI 0·14–1·40, p=0·17). …”
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    Triple therapy with artemether–lumefantrine plus amodiaquine versus artemether–lumefantrine alone for artemisinin-resistant, uncomplicated falciparum malaria: an open-label, randomised, multicentre trial
  11. 198011
    “…Species composition and allelic frequencies of kdr-w and ace-1(R) mutations were also investigated within the Anopheles gambiae complex. …”
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    Entomological indicators of malaria transmission prior to a cluster-randomized controlled trial of a ‘lethal house lure’ intervention in central Côte d’Ivoire
  12. 198012
    “…BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome. …”
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    Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis
  13. 198013
    por Chen, Ming-yung
    Publicado 2022
    “…RESEARCH OBJECTS AND METHODS: The delta virus is spreading rapidly, and the newly mutated omiclone virus is also spreading rapidly, which brings more uncertainty to the duration of the epidemic. …”
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    RESEARCH ON GLOBAL GDP AND CPI UNDER POST EPIDEMIC (COVID-19) BASED ON DECOUPLING INDEX MODEL
  14. 198014
    “…Using CIBERSORT, ESTIMATE, and single-sample GSEA (ssGSEA) algorithms, the quantities and types of tumor-infiltrating immune cells were assessed. The tumor mutational burden (TMB) and cytolytic (CYT) activity scores were calculated between the high- and low-risk groups. …”
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    Identification of a glycolysis- and lactate-related gene signature for predicting prognosis, immune microenvironment, and drug candidates in colon adenocarcinoma
  15. 198015
    “…Prenatal air pollution exposure has been linked with childhood obesity. Placental mtDNA mutations have been associated with prenatal particulate matter exposure and MT-ND4L(10550A>G) heteroplasmy has been associated with BMI in adults. …”
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    In utero particulate matter exposure in association with newborn mitochondrial ND4L(10550A>G) heteroplasmy and its role in overweight during early childhood
  16. 198016
    “…The MIC distributions for itraconazole and ravuconazole were similar between the two variants. No mutations linked to decreased susceptibility were found. …”
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    S4.5c Using serum beta-glucan measurements and sequencing of the Madurella mycetomatis azole target gene to predict therapeutic outcome during azole treatment in human mycetoma
  17. 198017
    “…Moreover, CRISPR-Cas9 gene editing coupled with prolonged in-vitro cell culturing has the potential to induce unintended ‘off-target’ cytogenetic mutations. To gain an insight into chromosomal instability (CIN) and karyotype heterogeneity, 19 HAP1 cell lines were cytogenetically characterised, 17 of which were near-haploids and two double-haploids, using multiplex fluorescence in situ hybridisation (M-FISH), at single cell resolution. …”
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    Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)
  18. 198018
    “…BACKGROUND: Niemann-Pick type C (NPC) is an autosomal recessive progressive neurodegenerative disorder caused by mutations in the NPC1 or NPC2 genes. Patients with this disorder have variable phenotypic presentations that often include neuropsychiatric manifestations, cognitive decline, and movement disorders. …”
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    Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph
  19. 198019
    “…Mutations in the pituitary specific transcription factor Prophet of Pit-1 (PROP1) are the most common genetic etiology of combined pituitary hormone deficiency (CPHD), which affects 1 in 8,000 newborns worldwide. …”
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    PMON145 The Role of Pou3f4 in Pituitary Development and Disease
  20. 198020
    “…Genetic testing did not show pathogenic mutations of AP2S1, CASR, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, TMEM127 or VHL genes. …”
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    ODP280 A Unique Case of Coexisting Paraganglioma, Primary Hypoaldosteronism and Primary Hyperparathyroidism in a Single Patient
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