Materias dentro de su búsqueda.
Mostrando 2,301 - 2,320 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.65s Limitar resultados
  1. 2301
    por Morgan, Neil V., Daly, Martina E.
    Publicado 2017
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Gene of the issue: RUNX1 mutations and inherited bleeding
  2. 2302
    “…BACKGROUND: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy
  3. 2303
    “…We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting multiple organs, mutations in the control region have never been shown to cause disease. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
  4. 2304
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Effects of Mutational Combinations on Philadelphia-Negative Myeloproliferative Neoplasms
  5. 2305
    “…This is an unfortunately frequent occurrence for patients undergoing targeted therapy for tumours harboring the activating V600E mutation of the BRAF gene. Since the initial identification of the BRAF mutation in 2002, a series of small molecular inhibitors that target the BRAFV600E have been developed, but intrinsic and acquired resistance to these drugs has presented an ongoing challenge. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Strategies for Overcoming Resistance in Tumours Harboring BRAF Mutations
  6. 2306
    “…Among 30 patients with genetic profiling, 15 were wild type and 15 had mutations. Mutations were an independent predictor of tumor growth (p = 0.049), but did not impact FLR growth (32% vs. 28%; p = 0.93). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Portal Vein Embolization: Impact of Chemotherapy and Genetic Mutations
  7. 2307
    “…Rapidly mutating pathogens may be able to persist in the population and reach an endemic equilibrium by escaping hosts’ acquired immunity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Human mobility networks and persistence of rapidly mutating pathogens
  8. 2308
    “…Here, we examine how this phenomenon relates to genome-wide patterns of de novo mutation. Mutation accumulation experiments were performed by sequential cloning of six P. falciparum isolates growing in human erythrocytes in vitro for 4 years, with 279 clones sampled for whole genome sequencing at different time points. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Extreme mutation bias and high AT content in Plasmodium falciparum
  9. 2309
    “…Interestingly, the FGFR3 mutations are significantly higher in a proportion of younger patients and show a trend toward better overall survival, compared with patients lacking actionable alterations or those harboring KRAS mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Drug-sensitive FGFR3 mutations in lung adenocarcinoma
  10. 2310
    “…BACKGROUND: Tumour suppressor genes when mutated in the germline cause various cancers, but they can also be somatically mutated in sporadic tumours. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Inherited variants in genes somatically mutated in thyroid cancer
  11. 2311
    “…We now report exaggerated pulmonary vascular and ventilatory responses to acute hypoxia in a 35‐year‐old man with erythrocytosis secondary to heterozygous mutation in PHD2, the most abundant of the PHD isoforms. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Cardiopulmonary phenotype associated with human PHD2 mutation
  12. 2312
    “…In a thyroid hemiagenesis family a splice site mutation in a proteasome gene PSMD2 (c.612T > C cDNA.1170T > C, g.3271T > C) was found in both affected mother and daughter. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations in proteasome-related genes are associated with thyroid hemiagenesis
  13. 2313
    “…To estimate the relative contributions of recombination and mutation to the genetic variability of begomoviruses, we mapped all substitutions over maximum likelihood trees and counted the number of substitutions on branches which were associated with recombination (η(r)) and mutation (η(μ)). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The diversification of begomovirus populations is predominantly driven by mutational dynamics
  14. 2314
    “…BACKGROUND: The key to interpreting the contribution of a disease-associated mutation in the development and progression of cancer is an understanding of the consequences of that mutation both on the function of the affected protein and on the pathways in which that protein is involved. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification and analysis of mutational hotspots in oncogenes and tumour suppressors
  15. 2315
    “…In this review, we summarize somatic mutations of chromatin-structure regulating genes from TCGA publications and other cancer genome studies, providing an overview of genomic alterations of chromatin regulating genes in human malignancies.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations of Chromatin Structure Regulating Genes in Human Malignancies
  16. 2316
    “…Fifty-eight subjects had ≥1 non-driver mutation upon diagnosis. Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Non-driver mutations in myeloproliferative neoplasm-associated myelofibrosis
  17. 2317
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy
  18. 2318
    “…Somatic mutations in cancer genomes often show allelic imbalance (AI) of mutation abundance between the genome and transcriptome, but there is not yet a systematic understanding of AI. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Allelic imbalance of somatic mutations in cancer genomes and transcriptomes
  19. 2319
    “…Several human diseases have been associated with mutations in mitochondrial genes comprising a set of confirmed and reported mutations according to the MITOMAP database. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Disease-associated mitochondrial mutations and the evolution of primate mitogenomes
  20. 2320
    “…Our results show that 100% of clonal mutations in patient BM were detected in CTCs and that 99% of clonal mutations in CTCs were present in BM MM. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The Mutational Landscape of Circulating Tumor Cells in Multiple Myeloma
Herramientas de búsqueda: RSS