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  1. 1361
    “…Forty to eighty percent of melanoma tumors have activating mutations in BRAF although the clinical importance of these mutations is not clear. …”
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    Clinical significance of BRAF mutations in metastatic melanoma
  2. 1362
    “…Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease.…”
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    Isolated Congenital Anosmia and CNGA2 Mutation
  3. 1363
    “…Mutation is the ultimate source of genetic variation, and knowledge of mutation rates is fundamental for our understanding of all evolutionary processes. …”
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    Spontaneous Mutation Rate in the Smallest Photosynthetic Eukaryotes
  4. 1364
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    Identification of EPCAM mutation: clinical use of microarray
  5. 1365
    por Vandin, Fabio
    Publicado 2017
    “…Advances in DNA sequencing technologies have allowed the characterization of somatic mutations in a large number of cancer genomes at an unprecedented level of detail, revealing the extreme genetic heterogeneity of cancer at two different levels: inter-tumor, with different patients of the same cancer type presenting different collections of somatic mutations, and intra-tumor, with different clones coexisting within the same tumor. …”
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    Computational Methods for Characterizing Cancer Mutational Heterogeneity
  6. 1366
    “…In many contexts, the problem arises of determining which of many candidate mutations is the most likely to be causative for some phenotype. …”
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    Validated Bayesian Differentiation of Causative and Passenger Mutations
  7. 1367
    por Smith, Bartram L, Wilke, Claus O
    Publicado 2017
    “…The influenza virus mutates faster than we previously thought.…”
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    A new twist in measuring mutation rates
  8. 1368
    por Pathak, Ekta
    Publicado 2017
    “…Ras GTPases are most prevalent proto-oncogenes in human cancer. Mutations in Ras remain untreatable more than three decades after the initial discovery. …”
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    Analysis of correlated mutations in Ras G-domain
  9. 1369
    “…Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. …”
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    TFAP2B mutation and dental anomalies
  10. 1370
    “…One construct had the native sequence (Wt construct), whereas the other had two nucleotide point mutations in which one mutation caused an amino acid substitution and one was silent (MEG-1076 construct). …”
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    Mutational study of sapovirus expression in insect cells
  11. 1371
    “…We also identified POLE proofreading domain mutations in three endometrioid ovarian tumors. These results highlight mutational differences between serous and non-serous ovarian cancers, and further distinguish different non-serous subtypes.…”
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    Mutational heterogeneity in non-serous ovarian cancers
  12. 1372
    por Lin, Yao, Yin, Wei, Bian, Zhuan
    Publicado 2017
    “…All of them were with a novel EDA frameshift mutation. The mutation, c.172-173insGG, which leads to an immediate premature stop codon in exon one caused severe structural changes of EDA. …”
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    Mutation detection and prenatal diagnosis of XLHED pedigree
  13. 1373
    “…Recent studies of somatic and germline mutations have led to the identification of a number of factors that influence point mutation rates, including CpG methylation, expression levels, replication timing, and GC content. …”
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    Contrasting Determinants of Mutation Rates in Germline and Soma
  14. 1374
    “…Nuclear mutations are well known to drive tumor incidence, aggression and response to therapy. …”
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    Mitochondrial mutations drive prostate cancer aggression
  15. 1375
    “…Catenin β1 (CTNNB1) mutation in APAs has been recently described and discussed in the literature. …”
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    CTNNB1 Mutation in Aldosterone Producing Adenoma
  16. 1376
    por Shimomura, Kenju, Maejima, Yuko
    Publicado 2017
    “…In some mutations, diabetes is accompanied by severe neurological symptoms [developmental delay, epilepsy, neonatal diabetes (DEND) syndrome]. …”
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    K(ATP) Channel Mutations and Neonatal Diabetes
  17. 1377
    por Mochizuki, Hiroyuki, Breen, Matthew
    Publicado 2015
    “…Activating mutations of the BRAF gene lead to constitutive activation of the MAPK pathway. …”
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    Comparative Aspects of BRAF Mutations in Canine Cancers
  18. 1378
    “…With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.…”
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    Methylmalonic Acidemia with Novel MUT Gene Mutations
  19. 1379
    “…RESULTS: No mutations were identified among 117 adenomas. CONCLUSIONS: The absence of ZFY mutations in this series suggests that ZFY rarely, if ever, acts as a driver oncogene in sporadic parathyroid adenomas. …”
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    Mutational Analysis of ZFY in Sporadic Parathyroid Adenomas
  20. 1380
    por Koelblinger, Peter, Dummer, Reinhard
    Publicado 2017
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    Targeted treatment of advanced NRAS-mutated melanoma
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