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  1. 197681
    “…Familial British dementia (FBD) and familial Danish dementia (FDD) are autosomal dominant forms of dementia caused by mutations in the integral membrane protein 2B (ITM2B, also known as BRI2) gene. …”
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    Chemical traits of cerebral amyloid angiopathy in familial British‐, Danish‐, and non‐Alzheimerʼs dementias
  2. 197682
    “…The serum levels of TNF-alpha were significantly higher in subjects with genetically mutated AA genotypes than in subjects with wild GG genotypes in the study groups. …”
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    Estimating the role of single-nucleotide polymorphism (rs1800629)-308 G/A of TNF-alpha gene as genetic marker associated with angina pectoris in a sample of Iraqi patients
  3. 197683
    “…SIMPLE SUMMARY: BRAF/MEK therapy and anti-PD-1 therapy have shown better recurrence-free survival of stage III melanoma in patients with BRAF V600 mutations in clinical trials. However, little is known about how these therapies compare to each other in everyday practice. …”
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    Adjuvant BRAF-MEK Inhibitors versus Anti PD-1 Therapy in Stage III Melanoma: A Propensity-Matched Outcome Analysis
  4. 197684
    “…Aberrant activation of NRF2 in cancer is attributed to gain-of-function mutations in the NRF2-encoding gene NFE2L2 or a loss of function of its suppressor, Kelch-like ECH-associated protein 1 (KEAP1). …”
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    Kynureninase Upregulation Is a Prominent Feature of NFR2-Activated Cancers and Is Associated with Tumor Immunosuppression and Poor Prognosis
  5. 197685
    “…Despite advances in therapies, treating combined SCLC is challenging, and novel therapies are not utilized, owing to low rates of targetable mutations. Combined SCLC has higher survival rates if well differentiated.…”
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    Clinicopathological and Treatment Patterns of Combined Small-Cell Lung Carcinoma with Future Insight to Treatment: A Population-Based Study
  6. 197686
    “…H. influenzae isolates from P08-ST107 acquired mutations in 23S rRNA, and those from P11-ST2480 and P13-ST165 had changes in L4 and L22. …”
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    Genetic Adaptation and Acquisition of Macrolide Resistance in Haemophilus spp. during Persistent Respiratory Tract Colonization in Chronic Obstructive Pulmonary Disease (COPD) Patients Receiving Long-Term Azithromycin Treatment
  7. 197687
    “…But the location of the primary tumor or the presence of various core driver gene mutations that confer resistance may limit the utility of targeted therapy. …”
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    PKCδ promotes the invasion and migration of colorectal cancer through c-myc/NDRG1 pathway
  8. 197688
    “…In addition, we found that the activation of the IRE1A/XBP-1 arm of the unfolded protein response (UPR) by hypoxia results in repression of miR-34a and thereby mediates hypoxia-induced EMT, migration, invasion, and chemo-resistance in p53 mutated/deficient CRC lines and ultimately contributes to lung metastasis formation. …”
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    miR-34a and IRE1A/XBP-1(S) Form a Double-Negative Feedback Loop to Regulate Hypoxia-Induced EMT, Metastasis, Chemo-Resistance and Autophagy
  9. 197689
    “…BACKGROUND: Familial cerebral cavernous alformation (CCM) is an autosomal dominant disease caused by mutations in KRIT1, CCM2, or PDCD10. Cases typically present with multiple lesions, strong family history, and neurological symptoms, including seizures, headaches, or other deficits. …”
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    Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation
  10. 197690
    “…BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare inherited autoimmune disease, characterized by primary adrenocortical insufficiency and hypoparathyroidism. Pathologic mutations in the autoimmune regulator (AIRE) gene, which participates in the regulation of T-cell self-tolerance can lead to APS-1. …”
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    A105 CHRONIC DIARRHOEA AND ELEVATED LIVER ENZYMES IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1
  11. 197691
    “…In the present First-in-Man study we tested dual vaccinations of ARG1- derived and PD-L1-derived peptides, combined with Montanide ISA-51 as adjuvant, in patients with Janus Kinase 2 (JAK2) V617F-mutated MPN. METHODS: Safety and efficacy of vaccination with ARG1- derived and PD-L1-derived peptides with montanide as an adjuvant was tested in 9 patients with MPN The primary end point was safety and toxicity evaluation. …”
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    An arginase1- and PD-L1-derived peptide-based vaccine for myeloproliferative neoplasms: A first-in-man clinical trial
  12. 197692
    “…In LR-MRSA isolates, some 23 S rRNA domain V mutations were observed: A2338T and C2610G (in 5 isolates); T2504C and G2528C (in 2 isolates); and G2576T (in 1 isolate). …”
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    Phenotypic and genotypic characterization of linezolid resistance and the effect of antibiotic combinations on methicillin-resistant Staphylococcus aureus clinical isolates
  13. 197693
    “…Positive samples were sequenced and analysed for mutations of interest. RESULTS: We observed sustained viral clearance in 71 of 103 patients, none of whom died. …”
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    Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients
  14. 197694
    “…METHODS: Here, we (i) reviewed previously identified POU2F3-positive invasive breast cancers (n = 4) for POU2F3 expression in intraductal cancer components, (ii) investigated a new cohort of invasive breast cancers (n = 1853) by POU2F3-IHC, (iii) explored POU2F3-expressing cells in non-neoplastic breast tissues obtained from women with or without BRCA1 mutations (n = 15), and (iv) reanalyzed publicly available single-cell RNA sequencing (scRNA-seq) data from normal breast cells. …”
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    An exploratory study for tuft cells in the breast and their relevance in triple-negative breast cancer: the possible relationship of SOX9
  15. 197695
    “…The identified variants were analysed using variant effect predictor online tool, and any possible segregation in other family members and novel missense mutations was modelled using in silico tools. The VM cohort was also used to perform a genome-wide variant burden test in order to identify confirm gene associations in this cohort. …”
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    Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome
  16. 197696
    “…BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. …”
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    Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
  17. 197697
    por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
    Publicado 2023
    “…The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. …”
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    The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
  18. 197698
    “…In Sumba, the mutant haplotype SDD of pfmdr1 was found in one-third of the isolates, while only 8.9% in Papua. None of the pfcrt mutations linked to piperaquine resistance were observed, but 71% of isolates had pfcrt I356L. …”
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    Evolution of genetic markers for drug resistance after the introduction of dihydroartemisinin–piperaquine as first-line anti-malarial treatment for uncomplicated falciparum malaria in Indonesia
  19. 197699
    “…RESULTS: In this study, to increase the genome targeting range, we upgraded the CRISPR-Cas12a-mediated technique by engineering two AsCas12a variants carrying the mutations S542R/K607R and S542R/K548V/N552R. Using the engineered AsCas12a variants, we deleted identified key factors involved in the glucoamylase expression and secretion in M. thermophila, including Mtstk-12, Mtap3m, Mtdsc-1 and Mtsah-2. …”
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    Development of the thermophilic fungus Myceliophthora thermophila into glucoamylase hyperproduction system via the metabolic engineering using improved AsCas12a variants
  20. 197700
    “…Furthermore, certain host gene mutations can also contribute to the development of CRC. …”
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    Identification of host gene-microbiome associations in colorectal cancer patients using mendelian randomization
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