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  1. 1941
    por Amos, William
    Publicado 2009
    “…BACKGROUND: Moller and Cuervo report a significant trend between minisatellite mutation rate and the frequency of extra-pair copulations in birds. …”
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    Sexual selection does not influence minisatellite mutation rate
  2. 1942
    por MacLean, R. Craig, Buckling, Angus
    Publicado 2009
    “…Understanding how beneficial mutations affect fitness is crucial to our understanding of adaptation by natural selection. …”
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    The Distribution of Fitness Effects of Beneficial Mutations in Pseudomonas aeruginosa
  3. 1943
    “…Computational prediction of the impact of a mutation on protein function is still not accurate enough for clinical diagnostics without additional human expert analysis. …”
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    Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
  4. 1944
    “…RESULTS: In all three families, genetic analysis identified that the underlying cause of BCM involved an unequal crossover within the opsin gene array, with an inactivating mutation. Family 1 had a single 5′-L–M-3′ hybrid gene, with an inactivating Cys203Arg (C203R) mutation. …”
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    Blue cone monochromacy: Causative mutations and associated phenotypes
  5. 1945
    por Laurila, Kirsti, Vihinen, Mauno
    Publicado 2009
    “…We applied bioinformatics methods to investigate the effects of known disease-related mutations on protein targeting and localization by analyzing over 22,000 missense mutations in more than 1,500 proteins with two complementary prediction approaches. …”
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    Prediction of disease-related mutations affecting protein localization
  6. 1946
    “…BACKGROUND: Until recently, the molecular mechanisms explaining increased incidence of ovarian and breast cancers in carriers of BRCA1 gene mutations had not been clearly understood. Of significance is the finding that BRCA1 negatively regulates aromatase expression in vitro. …”
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    Aromatase expression is increased in BRCA1 mutation carriers
  7. 1947
    por Wilkie, Andrew OM
    Publicado 2009
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    Pitfalls in the phylogenomic evaluation of human disease-causing mutations
  8. 1948
    por Brooke, G.N, Bevan, C.L
    Publicado 2009
    “…One mechanism by which the receptor is thought to remain active is mutation. This review summarises the present data on androgen receptor mutations in prostate cancer, and how such substitutions offer a growth advantage by affecting cofactor interactions or by reducing ligand specificity. …”
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    The Role of Androgen Receptor Mutations in Prostate Cancer Progression
  9. 1949
    “…The mutations exclusively affect codon 209 and result in GNAQ constitutive activation which, in turn, acts as a dominant oncogene. …”
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    Mutational Profile of GNAQ (Q209) in Human Tumors
  10. 1950
    “…The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. …”
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    Recurrent APC gene mutations in Polish FAP families
  11. 1951
    por Ruano, Irene, Izquierdo, Marta
    Publicado 2009
    “…The proto-oncogene c-kit plays an important role in the development and survival of mast cells. Gain-of-function mutations in c-kit are one of the most characteristic events in mast cell leukemia (MCL) but as yet there is no clinically approved treatment for the disease. …”
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    Selective RNAi-mediated inhibition of mutated c-kit
  12. 1952
    “…No studies have investigated mitochondrial mutation in salivary gland adenoid cystic carcinomas. …”
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    Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
  13. 1953
    “…The gene hclB encodes a histamine-gated chloride channel subunit in Drosophila melanogaster. Mutations in hclB lead to defects in the visual system and altered sensitivity to the action of ivermectin. …”
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    Functional consequences of mutations in the Drosophila histamine receptor HCLB
  14. 1954
    “…CONCLUSIONS: To our knowledge, this is the first study reporting the mutation screening of the AATF gene in familial breast cancer cases. …”
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    Mutation analysis of the AATF gene in breast cancer families
  15. 1955
    “…RESULTS: No deleterious mutations were identified, however, nine new sequence variants were found, most of these in the promoter and 5′UTR region. …”
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    Mutation analysis of the MSMB gene in familial prostate cancer
  16. 1956
    “…We calculate the distribution of the effects of mutations on fitness, the relative fractions of beneficial and deleterious mutations and the corresponding selection coefficients for populations evolving under different mutation rates. …”
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    Phenotypic effect of mutations in evolving populations of RNA molecules
  17. 1957
    “…Notably, PHF6 mutations are almost exclusively found in T-ALL samples from male subjects. …”
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    PHF6 mutations in T-cell acute lymphoblastic leukemia
  18. 1958
    “…CONCLUSIONS: Together, the eight mutations described by our laboratory, encompass >90% of ASAuria patients in Saudi Arabia and add to about 45 other ASAuria mutations reported worldwide.…”
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    Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
  19. 1959
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    A method and server for predicting damaging missense mutations
  20. 1960
    “…We find that telomere lengths of TERT mutation carriers decrease in an age-dependent manner and show progressive shortening with successive generations of mutation inheritance. …”
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    Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations
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