Materias dentro de su búsqueda.
Mostrando 561 - 580 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.51s Limitar resultados
  1. 561
    “…OBJECTIVE: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
  2. 562
    “…The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment
  3. 563
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Corrigendum to “Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer”
  4. 564
    “…BACKGROUND: Proof of the T790M resistance mutation is mandatory if patients with EGFR-mutated non-small cell lung cancer (NSCLC) progress under first- or second-generation tyrosine kinase inhibitor therapy. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Detection of EGFR Activating and Resistance Mutations by Droplet Digital PCR in Sputum of EGFR-Mutated NSCLC Patients
  5. 565
    “…Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
  6. 566
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Retraction Note to: Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice
  7. 567
    “…Interestingly, only MUC4 mutation was associated with higher TMB and patient clinical prognosis among the 17 mutated genes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mucin 4 mutation is associated with tumor mutation burden and promotes antitumor immunity in colon cancer patients
  8. 568
    “…Instead, we found that reconstructed existing mutations, especially dominant mutation conversion (e.g., expanded FLT3-ITD), rather than newly emerged mutations (e.g., TP53 mutation), mainly contributed to VEN resistance in AML. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Not BCL2 mutation but dominant mutation conversation contributed to acquired venetoclax resistance in acute myeloid leukemia
  9. 569
    “…Results: We found that RYR2 was a common frequently mutated gene in both cohorts, and patients with RYR2 mutation suggested higher tumor mutation burden (TMB), better prognosis, and superior expression of immune checkpoints. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Association of RYR2 Mutation With Tumor Mutation Burden, Prognosis, and Antitumor Immunity in Patients With Esophageal Adenocarcinoma
  10. 570
    “…CONCLUSIONS: Here, we identified a novel frameshift mutation in an X-linked IRS4 gene in two brothers with isolated CeH. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4
  11. 571
    “…BACKGROUND: Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to screen patients for their mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia
  12. 572
    “…Certain mutations may result in infertility or death in early development. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Comparison of the frequencies of ENU-induced point mutations in male germ cells and inherited germline mutations in their offspring
  13. 573
    “…Interestingly, only mutated TTN was related to higher TMB and prognostic outcomes among the 15 mutated genes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Titin Mutation Is Associated With Tumor Mutation Burden and Promotes Antitumor Immunity in Lung Squamous Cell Carcinoma
  14. 574
    “…According to reports, the mutation rate of COAD ranks third. However, whether these gene mutations are related to TMB and immune response is still unknown. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    USH2A Mutation is Associated With Tumor Mutation Burden and Antitumor Immunity in Patients With Colon Adenocarcinoma
  15. 575
    “…The 3D simulations indicate an increase in the surface hydrophilicity of the reference spike protein and the detected mutations. There was less surface hydrophilicity increase in the Asp614Gly mutation, which exhibits a more compact conformation around the ACE-2 receptor binding domain region, rendering the structure in a “down” conformation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutational landscape of SARS-CoV-2 genome in Turkey and impact of mutations on spike protein structure
  16. 576
    “…The distribution of fitness effects (DFE) of new mutations is a key parameter of molecular evolution. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hunting for Beneficial Mutations: Conditioning on SIFT Scores When Estimating the Distribution of Fitness Effect of New Mutations
  17. 577
    “…Here, we describe p.K743N mutations in human topoisomerase hTOP2α and link them to a previously undescribed mutator phenotype in cancer. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers
  18. 578
    “…METHODS: Somatic mutation data were downloaded from three GC cohorts. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutation of MUC16 Is Associated With Tumor Mutational Burden and Lymph Node Metastasis in Patients With Gastric Cancer
  19. 579
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Ataxia-telangiectasia mutated (ATM) gene mutation in a patient with primary cutaneous marginal zone lymphoma
  20. 580
    “…The mutation rate is a fundamental evolutionary parameter with direct and appreciable effects on the health and function of individuals. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations
Herramientas de búsqueda: RSS