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Mostrando 881 - 900 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.81s Limitar resultados
  1. 881
    “…Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. …”
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    Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
  2. 882
    “…Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.…”
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    ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
  3. 883
    “…Analysis of mutations in cancer has been used to predict outcome and guide therapeutic target identification but such analysis has focused on clonal mutations. …”
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    Frequent Heterogeneous Missense Mutations of GGAP2 in Prostate Cancer: Implications for Tumor Biology, Clonality and Mutation Analysis
  4. 884
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    The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics
  5. 885
    “…BACKGROUND: The detection of significant compensatory mutation signals in multiple sequence alignments (MSAs) is often complicated by noise. …”
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    Coupled mutation finder: A new entropy-based method quantifying phylogenetic noise for the detection of compensatory mutations
  6. 886
    “…BACKGROUND: The recent development of antibodies specific for the major hotspot mutations in the epidermal growth factor receptor (EGFR), L858R and E746_A750del, may provide an opportunity to use immunohistochemistry (IHC) as a screening test for EGFR gene mutations. …”
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    Immunohistochemical detection of mutations in the epidermal growth factor receptor gene in lung adenocarcinomas using mutation-specific antibodies
  7. 887
    “…Our aim was to ascertain whether mutation of the SOD1 protein increases metabolic functional susceptibility to oxidative stress. …”
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    The Effect of SOD1 Mutation on Cellular Bioenergetic Profile and Viability in Response to Oxidative Stress and Influence of Mutation-Type
  8. 888
    “…Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). …”
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    Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations
  9. 889
    “…This study includes two patients that had polyps removed from the ileum, and an extended investigation was performed with immunohistochemical staining and mutation analyses. Results. The tumors did not show typical immunohistochemical staining for markers used to diagnose GIST, but the mutation analysis revealed a mutation in PDGFRA exon 12. …”
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    Do Not Be Fooled by Fancy Mutations: Inflammatory Fibroid Polyps Can Harbor Mutations Similar to Those Found in GIST
  10. 890
    “…Due to mutational heterogeneity, current analyses are often restricted to known pathways and functional modules for enrichment of somatic mutations. …”
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    Identification of mutated core cancer modules by integrating somatic mutation, copy number variation, and gene expression data
  11. 891
    “…The sperm or eggs of sexual organisms go through a series of cell divisions from the fertilized egg; mutations can occur at each division. Mutations in the lineage of cells leading to the sperm or eggs are of particular importance because many such mutations may be shared by somatic tissues and also may be inherited, thus having a lasting consequence. …”
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    Pattern of Mutation Rates in the Germline of Drosophila melanogaster Males from a Large-Scale Mutation Screening Experiment
  12. 892
    “…Tumors with somatic mutations in the proofreading exonuclease domain of DNA polymerase epsilon (POLE-exo*) exhibit a novel mutator phenotype, with markedly elevated TCT→TAT and TCG→TTG mutations and overall mutation frequencies often exceeding 100 mutations/Mb. …”
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    Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication
  13. 893
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    Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
  14. 894
    “…Hotspot mutations in GNAQ and GNA11 can be divided in A>T and in A>C mutation signatures. …”
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    Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism
  15. 895
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    Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway
  16. 896
    “…The purpose of this study was to describe the pathological features associated with more recently discovered FUS mutations and reinvestigate those with well recognised mutations in an attempt to correlate the pathology with mutation and/or clinical phenotype. …”
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    ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation
  17. 897
    “…PURPOSE: Mutation-specific antibodies have recently been developed for identification of epidermal growth factor receptor (EGFR) mutations by immunohistochemistry (IHC). …”
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    Identification of EGFR Mutations by Immunohistochemistry with EGFR Mutation–Specific Antibodies in Biopsy and Resection Specimens from Pulmonary Adenocarcinoma
  18. 898
    “…We report a case of a 54-year-old male with a seven-year survival after being diagnosed with Stage IV epidermal growth factor receptor (EGFR) mutation-negative and anaplastic lymphoma kinase (ALK) mutation-negative adenocarcinoma of the lung, demonstrating an exceptional response to treatment. …”
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    Stage IV EGFR Mutation-Negative and ALK Mutation-Negative Lung Adenocarcinoma: Long-Term Survival is Possible
  19. 899
    “…To further characterize the involvement of BLM in tumorigenesis, we have investigated mutations in nine genes containing coding microsatellites in microsatellite mutator phenotype (MMP) positive and negative gastric carcinomas (GCs). …”
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    Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype
  20. 900
    “…Although haplotype phasing information derived by using heterozygous germ line variants near candidate mutations would improve accuracy, no somatic mutation caller that uses such information is currently available. …”
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    HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations
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