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  1. 1881
    “…BACKGROUND: Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still unclear. …”
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    Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta
  2. 1882
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    Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease
  3. 1883
    “…IDH2 R172 was shown to have inhibitory effects on TET2, mimicking the effects of TET2 mutations, as well as having effects on histone methylation. …”
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    The Role of Epigenetic Modifier Mutations in Peripheral T-Cell Lymphomas
  4. 1884
    “…Mutations in common colorectal cancer driver genes are often not consistent with those signatures. …”
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    Contribution of pks(+) E. coli mutations to colorectal carcinogenesis
  5. 1885
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    GenePath: from mutations to genetic networks and back
  6. 1886
    “…Previous in vitro experiments using renal cell lines suggest recessive Aqp2 mutations result in improper trafficking of the mutant water pore. …”
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    Diabetes Insipidus in Mice with a Mutation in Aquaporin-2
  7. 1887
    por Khaidakov, M, Reis, RJ Shmookler
    Publicado 2005
    “…Several studies of tumors have revealed substantial numbers of clonally expanded somatic mutations in mitochondrial DNA (mtDNA), not observed in adjacent intact tissues. …”
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    Possibility of selection against mtDNA mutations in tumors
  8. 1888
    “…Given the high mutational heterogeneity (62 mutations reported to date), the high frequency of variations in the region (eight single nucleotide polymorphisms in and around RMRP), and the fact that RMRP is not translated into protein, prediction of mutation pathogenicity is difficult. …”
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    Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations
  9. 1889
    por Deng, Hong-Wen
    Publicado 1998
    “…Deng and Lynch (1, 2) proposed to characterize deleterious genomic mutations from changes in the mean and genetic variance of fitness traits upon selfing in outcrossing populations. …”
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    Inferring Deleterious-Mutation Parameters in Natural Daphnia Populations
  10. 1890
    “…An analysis has been made of erythrocyte glycophorin A (GPA) gene mutations in 1,226 atomic bomb survivors in Hiroshima and Nagasaki. …”
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    Monitoring exposure to atomic bomb radiation by somatic mutation.
  11. 1891
    por Peltomäki, P
    Publicado 1997
    “…Genetic and biochemical characterization of the functions of normal and mutated MMR genes elucidates mechanisms of cancer development and provides tools for diagnostic applications.…”
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    DNA mismatch repair gene mutations in human cancer.
  12. 1892
    “…We have also demonstrated the feasibility of reverse genetic approaches for obtaining carriers of mutations in specific genes, and have directly determined an induced mutation rate by sequencing specific exons from a mutagenized population. …”
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    Genetic Screens for Mutations Affecting Development of Xenopus tropicalis
  13. 1893
    por Gazdar, Adi F, Minna, John D
    Publicado 2005
    “…Gazdar and Minna discuss the context and implications of a research article that examines the transformation potential and response to inhibitors of specific EGFR mutations found in lung cancer.…”
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    Inhibition of EGFR Signaling: All Mutations Are Not Created Equal
  14. 1894
    por Churkin, Alexander, Barash, Danny
    Publicado 2006
    “…RESULTS: Selecting a category in each one of the processed tables lists all single point mutations belonging to that category. Selecting a mutation displays a graphical drawing of the single point mutation and the wild type, and includes basic information such as associated energies, representations and distances. …”
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    RNAmute: RNA secondary structure mutation analysis tool
  15. 1895
    “…Somatic cell gene mutations arising in vivo in humans provide biomarkers for genotoxicity. …”
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    Somatic cell gene mutations in humans: biomarkers for genotoxicity.
  16. 1896
    “…Results were tested on 1538 mutations from thermal denaturation and 1603 mutations from chemical denaturation experiments. …”
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    CUPSAT: prediction of protein stability upon point mutations
  17. 1897
    por Møller, AP, Cuervo, JJ
    Publicado 2003
    “…Two hypotheses may account for such elevated mutation: (1) Increased sperm production associated with sperm competition may increase mutation rate. (2) Mutator alleles increase mutation rates that are revealed by the expression of condition-dependent secondary sexual characters used by choosy females during their mate choice. …”
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    Sexual selection, germline mutation rate and sperm competition
  18. 1898
    por Selby, Paul B.
    Publicado 1978
    “…A new approach for estimating genetic risk to humans from radiation is based upon an analysis of the frequency of induction of dominant mutations that cause skeletal abnormalities in mice. …”
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    Induction of dominant mutations that cause skeletal malformations in mice
  19. 1899
    “…In order to realize the potential of such screens, systematic genetic mapping of the mutations is necessary. Here we report on a large-scale effort to map the mutations generated in mutagenesis screening at the Max Planck Institute for Developmental Biology by genome scanning with microsatellite markers. …”
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    Large-scale mapping of mutations affecting zebrafish development
  20. 1900
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    Correction: The Role of Compensatory Mutations in the Emergence of Drug Resistance
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