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  1. 1181
    “…This HTS PTT-ELISA assay is based on a coupled PTT that uses plasmid templates containing prototypic A-T mutated (ATM) mutations for HTS. The assay is luciferase independent. …”
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    Nonaminoglycoside compounds induce readthrough of nonsense mutations
  2. 1182
    por Leslie, Mitch
    Publicado 2009
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    Suspected asthma mutation leaves mice gasping
  3. 1183
    “…However, two mutations in particular lead to defects in (a) GAL2 transcription and recruitment to the nuclear periphery, (b) condensation of mitotic chromosomes, (c) nucleolar morphology, and (d) tRNA gene–mediated silencing and clustering of tRNA genes. …”
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    Cohesinopathy mutations disrupt the subnuclear organization of chromatin
  4. 1184
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    Cohesinopathy mutations disrupt the subnuclear organization of chromatin
  5. 1185
    “…Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. …”
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    Germline Mutations and Polymorphisms in the Origins of Cancers in Women
  6. 1186
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    Canine Morphology: Hunting for Genes and Tracking Mutations
  7. 1187
    “…In this report we have screened a series of 118 probands that all have the clinical diagnosis of HNPCC for medium to large deletions by the Multiplex Ligation-Dependent Probe Amplification assay (MLPA) to determine the frequency of this type of mutation. The results indicate that a significant proportion of Australian HNPCC patients harbour deletion or duplication mutations primarily in hMSH2 but also in hMLH1.…”
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    Deletion Mutations in an Australian Series of HNPCC Patients
  8. 1188
    “…All families but one were small and de novo mutations were found.…”
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    Germline PTEN mutations are rare and highly penetrant
  9. 1189
    “…Mutations of mitochondrial DNA are associated with a wide spectrum of disorders, primarily affecting the central nervous system and muscle function. …”
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    Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations
  10. 1190
    “…Mitochondrial mutations are well documented in hepatocellular carcinoma, but their role in carcinogenesis remains unclear. …”
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    Mitochondrial Mutations in Hepatocellular Carcinomas and Fibrolamellar Carcinomas
  11. 1191
    por Dees, Nathan D., Bahar, Sonya
    Publicado 2010
    “…The role of mutation rate in optimizing key features of evolutionary dynamics has recently been investigated in various computational models. …”
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    Mutation Size Optimizes Speciation in an Evolutionary Model
  12. 1192
    por Hershberg, Ruth, Petrov, Dmitri A.
    Publicado 2010
    “…Mutation is a random process that nevertheless occurs according to certain biases. …”
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    Evidence That Mutation Is Universally Biased towards AT in Bacteria
  13. 1193
    por Pfeifer, Gerd P
    Publicado 2010
    “…Sequencing of entire cancer genomes has not only begun to provide clues regarding functionally relevant mutations, but has also paved the way towards understanding the initial exposures leading to DNA damage, repair and eventually to mutation of specific sequences within a cancer genome. …”
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    Environmental exposures and mutational patterns of cancer genomes
  14. 1194
    por Al-Kuraya, Khawla S.
    Publicado 2009
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    KRAS and TP53 Mutations in Colorectal Carcinoma
  15. 1195
    por Lovric, M M, Hawkins, C J
    Publicado 2010
    “…Surprisingly, however, treatment with sub-lethal concentrations of TRAIL or FasL was mutagenic. Mutations arose in viable cells that contained active caspases, and overexpression of the caspase-8 inhibitor crmA or silencing of caspase-8 abolished TRAIL-mediated mutagenesis. …”
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    TRAIL treatment provokes mutations in surviving cells
  16. 1196
    “…To determine if SCG10 is involved in the etiology of HSCR, we determined SCG10 expression levels during development and screened 85 HSCR patients for SCG10 mutations. We showed that SCG10 expression increases during development but no germline mutation was found in any of these patients. …”
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    Mutations in SCG10 Are Not Involved in Hirschsprung Disease
  17. 1197
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    Correction: Frequent MAGE Mutations in Human Melanoma
  18. 1198
    por Kwong, Ava, Ng, Enders K. O.
    Publicado 2010
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    Managing BRCA Mutation Carriers in China: Reply
  19. 1199
    “…New models for evolutionary processes of mutation accumulation allow hypotheses about the age-specificity of mutational effects to be translated into predictions of heterogeneous population hazard functions. …”
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    Vital Rates from the Action of Mutation Accumulation
  20. 1200
    “…Of 12 patients with PARK2 mutations, 4 patients, who were older than patients without abnormal uptake, exhibited decreased MIBG uptake. …”
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    Nonmotor Symptoms in Patients with PARK2 Mutations
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