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  1. 196581
    “…METHODS: PRG expression patterns and the associated mutational landscape in HNSCC were analyzed, after which a 6-gene prognostic model was constructed through least absolute shrinkage and selection operator (LASSO) and Cox regression analyses using the TCGA dataset, followed by validation with two GEO datasets (GSE41643 and GSE65858). …”
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    Development of a prognostic pyroptosis-related gene signature for head and neck squamous cell carcinoma patient
  2. 196582
    “…BACKGROUND: A variety of mutations in the largest human gene, dystrophin, cause a spectrum from mild to severe dystrophin-associated muscular dystrophies. …”
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    Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis
  3. 196583
    “…In other dodders, mitogenomes were maintained in small size, revealing divergent evolutionary strategies. Mutations unique to plants were detected in the mitochondrial gene ccmFc, which has broken into three fragments through gene fission and splicing shift. …”
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    Unprecedented organelle genomic variations in morning glories reveal independent evolutionary scenarios of parasitic plants and the diversification of plant mitochondrial complexes
  4. 196584
    por van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward
    Publicado 2021
    “…CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. …”
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    Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
  5. 196585
    “…BACKGROUND: Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. …”
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    A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
  6. 196586
    “…Moreover, higher SPAG1 expression was more common in + 8 patients (P = 0.034), rarely found with t(8;21) (P = 0.014), and correlated with FLT3 (P < 0.001) and DNMT3A mutations (P = 0.001). Despite these associations, multivariate analysis confirmed the independent prognostic value of SPAG1 expression in AML (P < 0.001). …”
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    Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation
  7. 196587
    “…There is also tight correlation between radiotherapy and immune status, and brain metastases (BM) radiotherapy is an important treatment in patients with BM from lung adenocarcinoma harboring epidermal growth factor receptor (EGFR) mutations. Hence, this study aimed to present the prognostic value of SII and its dynamic changes during BM radiotherapy in EGFR-mutant lung adenocarcinoma patients with BM. …”
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    Dynamic changes in the systemic immune-inflammation index predict the prognosis of EGFR-mutant lung adenocarcinoma patients receiving brain metastasis radiotherapy
  8. 196588
    “…In addition, the cBioPortal for Cancer Genomics was used to calculate the mutations, methylations, and altered neighbor genes of LPAR2. …”
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    LPAR2 correlated with different prognosis and immune cell infiltration in head and neck squamous cell carcinoma and kidney renal clear cell carcinoma
  9. 196589
    por Johnson, JP, Focken, Thilo, Khakh, Kuldip, Tari, Parisa Karimi, Dube, Celine, Goodchild, Samuel J, Andrez, Jean-Christophe, Bankar, Girish, Bogucki, David, Burford, Kristen, Chang, Elaine, Chowdhury, Sultan, Dean, Richard, de Boer, Gina, Decker, Shannon, Dehnhardt, Christoph, Feng, Mandy, Gong, Wei, Grimwood, Michael, Hasan, Abid, Hussainkhel, Angela, Jia, Qi, Lee, Stephanie, Li, Jenny, Lin, Sophia, Lindgren, Andrea, Lofstrand, Verner, Mezeyova, Janette, Namdari, Rostam, Nelkenbrecher, Karen, Shuart, Noah Gregory, Sojo, Luis, Sun, Shaoyi, Taron, Matthew, Waldbrook, Matthew, Weeratunge, Diana, Wesolowski, Steven, Williams, Aaron, Wilson, Michael, Xie, Zhiwei, Yoo, Rhena, Young, Clint, Zenova, Alla, Zhang, Wei, Cutts, Alison J, Sherrington, Robin P, Pimstone, Simon N, Winquist, Raymond, Cohen, Charles J, Empfield, James R
    Publicado 2022
    “…Such a molecule provides a precision-medicine approach to target SCN8A-related epilepsy syndromes (SCN8A-RES), where gain-of-function (GoF) mutations lead to excess Na(V)1.6 sodium current, or other indications where Na(V)1.6 mediated hyper-excitability contributes to disease (Gardella and Møller, 2019; Johannesen et al., 2019; Veeramah et al., 2012). …”
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    NBI-921352, a first-in-class, Na(V)1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats
  10. 196590
    “…Overall, 354 distinctive P/LP variants were identified in 23 genes. The most commonly mutated genes were: BRCA1 (27.4%), BRCA2 (20.3%), TP53 (10.5%), monoallelic MUTYH (9.9%), ATM (8.8%), CHEK2 (6.2%) and PALB2 (5.1%). …”
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    Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
  11. 196591
    “…CLN-049 binds the membrane proximal extracellular domain of the FLT3 protein tyrosine kinase, which facilitates the targeting of leukemic blasts regardless of FLT3 mutational status. CLN-049 was evaluated for preclinical safety and efficacy in vitro and in vivo. …”
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    A novel IgG-based FLT3xCD3 bispecific antibody for the treatment of AML and B-ALL
  12. 196592
    “…BACKGROUND AND OBJECTIVE: Dacomitinib is a kinase inhibitor indicated for the first-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR)-activating mutations. To evaluate the effect of hepatic impairment on the pharmacokinetics of dacomitinib, two dedicated studies were conducted to inform optimal dosing. …”
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    The Effect of Hepatic Impairment on the Pharmacokinetics of Dacomitinib
  13. 196593
    “…Our research shows that 17% of the aberrations (6/35 abnormal results) that cannot be identified by the routine kariotype analysis are structural aberrations containing genes important for fetal development, the mutations of which may cause spontaneous abortion.…”
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    Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss
  14. 196594
    “…We also exemplified the utility of 32mSNPs in enhancing post-genomics research through in-silico genotyping, high-resolution GWAS, discovering and/or characterizing genes and alleles/mutations, identifying germplasms containing beneficial alleles that are potentially experiencing artificial selection. …”
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    Development of a versatile resource for post-genomic research through consolidating and characterizing 1500 diverse wild and cultivated soybean genomes
  15. 196595
    “…These phenotypes are independent from the effect of mutations on PykA catalytic activity and are not associated with significant changes in the metabolome. …”
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    Pyruvate kinase, a metabolic sensor powering glycolysis, drives the metabolic control of DNA replication
  16. 196596
    “…METHODS: Here, we evaluated in mice and hamsters the efficacy of a pre-clinical version of the Moderna mRNA vaccine (mRNA-1273) and the Johnson & Johnson recombinant adenoviral-vectored vaccine (Ad26.COV2.S) against the B.1.621 (Mu) variant of SARS-CoV-2, which contains spike mutations T95I, Y144S, Y145N, R346K, E484K, N501Y, D614G, P681H, and D950N. …”
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    mRNA-1273 and Ad26.COV2.S vaccines protect against the B.1.621 variant of SARS-CoV-2
  17. 196597
    “…Our population consisted of 13 hepatocyte nuclear factor (HNF)-1α-inactivated (H-HCAs), 7 β-catenin-exon-3-mutated (b(ex3)-HCAs), 27 inflammatory HCAs (I-HCAs), and 16 HCCs. …”
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    Differentiation of hepatocellular adenoma by subtype and hepatocellular carcinoma in non-cirrhotic liver by fractal analysis of perfusion MRI
  18. 196598
    “…BACKGROUND: In non-small cell lung cancer (NSCLC) patients receiving immune checkpoint inhibitors (ICIs), higher blood tumor mutational burden (bTMB) was usually associated with better progression-free survival (PFS) and objective response rate (ORR). …”
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    ctDNA-adjusted bTMB as a predictive biomarker for patients with NSCLC treated with PD-(L)1 inhibitors
  19. 196599
    “…The Jumonji C-containing histone lysine demethylase family 4 (KDM4) members, KDM4A‒KDM4C, serve as critical coactivators of AR to promote tumor growth in prostate cancer and are candidate therapeutic targets to overcome AR mutations/alterations-mediated resistance in CRPC. …”
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    Natural product myricetin is a pan-KDM4 inhibitor which with poly lactic-co-glycolic acid formulation effectively targets castration-resistant prostate cancer
  20. 196600
    “…The findings further emphasized that both mutational and selection forces influenced the codon usage patterns of ORF4 protein genes. …”
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    Analysis of codon usage patterns in open reading frame 4 of hepatitis E viruses
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