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  1. 9341
    “…FUNDING: Bill & Melinda Gates Foundation, Wellcome Sanger Institute, and the US Centers for Disease Control.…”
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    Pneumococcal lineages associated with serotype replacement and antibiotic resistance in childhood invasive pneumococcal disease in the post-PCV13 era: an international whole-genome sequencing study
  2. 9342
    “…METHODS: AIF splicing induction in brain was determined by multiple approaches including 5′ RACE, Sanger sequencing, splicing-specific PCR assay and bottom-up proteomic analysis. …”
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    AIF3 splicing switch triggers neurodegeneration
  3. 9343
    “…High concordance between ddPCR, NGS and Sanger sequencing of the findings of APA mutations in adjacent adrenals when analysed in the same sample. …”
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    CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
  4. 9344
    “…MEN1 mutations were confirmed or excluded by Sanger sequencing or by NGS (NextSeq550, Illumina, USA). …”
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    Differences in Menin Expression in Pituitary Adenomas in Multiple Endocrine Neoplasia Type 1, Its Phenocopies and Sporadic Acromegaly
  5. 9345
    “…METHODS: The study recruited 330 osteoporosis patients (the case group) and 330 non-osteoporosis patients (the control group) in Sichuan Chengdu First People’s Hospital and Zibo Central Hospital from August 2016 to August 2019. Sanger sequencing was used to analyze the genotypes of SOX4 gene rs79958549, rs139085828, and rs201335371 loci. …”
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    The effect of SOX4 gene 3′UTR polymorphisms on osteoporosis
  6. 9346
    “…Pigs in the E191A-P1 group had less severe diarrhea and no pigs died. Sanger sequencing analysis revealed that the viral genome in the fecal sample of one E191A-P1-inoculated pig and the P4 virus passaged in vitro lost the E191A mutation, suggesting the genetic instability of the E191A mutant. …”
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    Crucial mutation in the exoribonuclease domain of nsp14 of PEDV leads to high genetic instability during viral replication
  7. 9347
    “…METHODS: PCR-RFLP and Sanger sequencing were used to detect polymorphisms. …”
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    BAX -248 G>A and BCL2 -938 C>A Variant Lowers the Survival in Patients with Nasopharyngeal Carcinoma and Could be Associated with Tissue-Specific Malignancies: A Multi-Method Approach
  8. 9348
    “…METHODS: Peripheral blood samples and clinical data of patients with primary iron overload were collected from the China Registry of Genetic/Metabolic Liver Diseases. Sanger sequencing was performed in cases with primary iron overload, for 5 known HH related genes (HFE, HJV, HAMP, TFR2 and SLC40A1) and 2 novel iron homeostasis-related genes (DENND3 and SUGP2). …”
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    Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
  9. 9349
    “…We genotyped HIV-1 reverse transcriptase and protease genes by Sanger sequencing and assessed ADR. We characterized the effect of ADR mutations on the predicted susceptibility to drugs used in combination with DTG. …”
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    Acquired HIV drug resistance and virologic monitoring in a HIV hyper-endemic setting in KwaZulu-Natal Province, South Africa
  10. 9350
    “…The amplified amplicons of pfcsp have been sequenced using the Sanger dideoxy method. The obtained sequences of pfcsp nucleotide diversity parameters including the numbers of haplotypes (Hap), haplotypes diversity (Hapd), the average number of nucleotide differences between two sequences (p), and the numbers of segregating sites (S) were obtained. …”
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    Assessment of genetic diversity of Plasmodium falciparum circumsporozoite protein in Sudan: the RTS,S leading malaria vaccine candidate
  11. 9351
    “…METHODS: We designed divergent and convergent primers, used sanger sequencing and RNase R digestion to verify the source of circCRIM1. …”
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    CircCRIM1 promotes ovarian cancer progression by working as ceRNAs of CRIM1 and targeting miR-383-5p/ZEB2 axis
  12. 9352
    “…N_LyST is a robust high-resolution melting (HRM)-based test that has shown 100% concordance with standard reference methods, including capillary electrophoresis and Sanger sequencing. The test consisted of five mononucleotide microsatellite markers (BAT25, BAT26, BCAT25, MYB, EWSR1), BRAF V600E mutation and MLH1 region C promoter for methylation (using bisulphite-modified DNA). …”
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    Molecular Analysis of Colorectal Cancers Suggests a High Frequency of Lynch Syndrome in Indonesia
  13. 9353
    “…For monitoring resistance, Pfk13 and Pfmdr1 genes were Sanger sequenced and plasmepsin-2 copy number was assessed by qPCR. …”
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    Efficacy and safety of artemether-lumefantrine and dihydroartemisinin-piperaquine for the treatment of uncomplicated Plasmodium falciparum malaria and prevalence of molecular markers associated with artemisinin and partner drug resistance in Uganda
  14. 9354
    “…METHODS: We searched circBase and circInteractome to analyze the potential of PTEN for generating circRNAs. Then, Sanger sequencing, RNase R and Actinomycin D assays were used to verify the ring structure of circPTEN1. …”
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    circPTEN1, a circular RNA generated from PTEN, suppresses cancer progression through inhibition of TGF-β/Smad signaling
  15. 9355
    “…This case–control study aimed to further validate the association of the four mutations with COPD in the Chinese Uyghur population. METHODS: Sanger sequencing was used for the genotyping of four polymorphisms (ANO3/MUC15 rs15783, COL4A4 rs1800517, RRBP1 rs11960, and KLK1 rs5516) in 541 unrelated Uyghur COPD patients and 534 Uyghur healthy controls. …”
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    Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population
  16. 9356
    “…The results were validated with Sanger sequencing. For all the variants thought to influence spermatogenesis, we used immunohistochemical techniques to analyse the level of the altered protein. …”
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    Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes
  17. 9357
    “…Quality of WGS-based DNM calling was independently assessed by targeted Sanger sequencing. MAIN RESULTS AND THE ROLE OF CHANCE: No significant differences were observed in the number of DNMs per child for the different methods of conception, independent of parental age at conception (multi-factorial ANOVA, f(2) = 0.17, P-value = 0.85). …”
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    De novo mutations in children born after medical assisted reproduction
  18. 9358
    “…Aberrant circPOLR2A expression was validated in cRCC tissues and cell lines via qRT-PCR. Sanger sequencing was used to identify the backsplicing site of circPOLR2A. …”
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    Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway
  19. 9359
    “…CircRNA expression profiles were screened via IGF2BP3 RIP-seq in GC. Sanger sequencing, RNase R digestion, nucleo-plasmic separation and RNA-FISH assays were used to detect the existence and expression of circARID1A. …”
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    CircARID1A binds to IGF2BP3 in gastric cancer and promotes cancer proliferation by forming a circARID1A-IGF2BP3-SLC7A5 RNA–protein ternary complex
  20. 9360
    por Kunadt, Desiree, Stasik, Sebastian, Metzeler, Klaus H., Röllig, Christoph, Schliemann, Christoph, Greif, Philipp A., Spiekermann, Karsten, Rothenberg-Thurley, Maja, Krug, Utz, Braess, Jan, Krämer, Alwin, Hochhaus, Andreas, Scholl, Sebastian, Hilgendorf, Inken, Brümmendorf, Tim H., Jost, Edgar, Steffen, Björn, Bug, Gesine, Einsele, Hermann, Görlich, Dennis, Sauerland, Cristina, Schäfer-Eckart, Kerstin, Krause, Stefan W., Hänel, Mathias, Hanoun, Maher, Kaufmann, Martin, Wörmann, Bernhard, Kramer, Michael, Sockel, Katja, Egger-Heidrich, Katharina, Herold, Tobias, Ehninger, Gerhard, Burchert, Andreas, Platzbecker, Uwe, Berdel, Wolfgang E., Müller-Tidow, Carsten, Hiddemann, Wolfgang, Serve, Hubert, Stelljes, Matthias, Baldus, Claudia D., Neubauer, Andreas, Schetelig, Johannes, Thiede, Christian, Bornhäuser, Martin, Middeke, Jan M., Stölzel, Friedrich
    Publicado 2022
    “…METHODS: Genomic DNA was extracted from bone marrow or peripheral blood samples at diagnosis and analyzed for IDH mutations with denaturing high-performance liquid chromatography, Sanger sequencing and targeted myeloid panel next-generation sequencing, respectively. …”
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    Impact of IDH1 and IDH2 mutational subgroups in AML patients after allogeneic stem cell transplantation
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