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  1. 2401
    “…PEG3 is identified as a novel frequently mutated gene (10.6%). APC and Wnt signaling exhibit significantly lower mutation frequencies than those in TCGA data. …”
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    The landscape of somatic mutation in sporadic Chinese colorectal cancer
  2. 2402
    por Gao, Zewen, Chen, Ye, Guan, Min-Xin
    Publicado 2017
    “…These mutations cause human mitochondrial ribosomes to more closely resemble bacterial ribosomes and enable a stronger aminoglycoside interaction. …”
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    Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity
  3. 2403
    Publicado 2017
    “…Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. …”
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    Prevalence and architecture of de novo mutations in developmental disorders
  4. 2404
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    What is Currently the Best for Adenocarcinoma without Driver Mutation?
  5. 2405
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    Response to growth hormone in patients with RNPC3 mutations
  6. 2406
    “…However, for other predisposition genes, studies concerning the risk and penetrance to TNBC are relatively scarce. Very few recurrent mutations, including TP53 and PI3KCA mutations, together with a long tail of individually rare mutations occur in TNBC. …”
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    Therapeutic landscape in mutational triple negative breast cancer
  7. 2407
    “…However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson’s disease or parkinsonian disorders. …”
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    Identification of TMEM230 mutations in familial Parkinson’s disease
  8. 2408
    “…Deleterious mutations have important implications for the evolutionary trajectories of populations. …”
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    Impact of supplementation on deleterious mutation distribution in an exploited salmonid
  9. 2409
    “…Comparison between patients with hotspot mutations and mutations in other regions, for mean IQ score and BGT score, was statistically significant (P = 0.132 and P = 0.005, respectively). …”
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    Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy
  10. 2410
    “…BACKGROUND: Alzheimer’s disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. Mutations in amyloid-β precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the pathogenic cause of autosomal dominant AD (ADAD). …”
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    Discovery and validation of autosomal dominant Alzheimer’s disease mutations
  11. 2411
    “…For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. …”
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    Systematic Analysis of Splice-Site-Creating Mutations in Cancer
  12. 2412
    “…Here, we asked if somatic mtDNA mutations are also associated with aging in the mouse. …”
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    Germline and somatic mtDNA mutations in mouse aging
  13. 2413
    “…Our results indicated that approximately 95% FCoVs in faeces did not carry mutations in the two genes. However, 80% FCoVs in effusion samples exhibited mutations in the S and 3c genes with remainder displaying a mutation in the S or 3c gene. …”
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    Mutation of the S and 3c genes in genomes of feline coronaviruses
  14. 2414
    “…Herein, we summarize the major computational approaches and tools that provide not only the classification of missense mutations as cancer drivers or passengers but also the molecular mechanisms induced by driver mutations. …”
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    Computational Approaches to Prioritize Cancer Driver Missense Mutations
  15. 2415
    “…The rate at which an element in a metabolic network accumulates genetic variation via new mutations depends on both the size of the mutational target it presents and its robustness to mutational perturbation. …”
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    Network Architecture and Mutational Sensitivity of the C. elegans Metabolome
  16. 2416
    “…Here, we introduce MMARGE (Motif Mutation Analysis of Regulatory Genomic Elements), the first publicly available suite of software tools that integrates genome-wide genetic variation with epigenetic data to identify collaborative transcription factor pairs. …”
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    MMARGE: Motif Mutation Analysis for Regulatory Genomic Elements
  17. 2417
    “…Thirty-nine of these mutations were considered likely to be pathogenic based on gene function, evolutionary conservation, and mutation impact. …”
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    Insights Into de novo Mutation Variation in Lithuanian Exome
  18. 2418
    “…RESULTS: Of the 1,077 genetically tested cases, 74 (6.9%) carried C9orf72 mutations, 20 (1.9%) had SOD1 mutations, 15 (1.4%) had TARDBP mutations, and 3 (0.3%) carried FUS mutations. …”
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    The multistep hypothesis of ALS revisited: The role of genetic mutations
  19. 2419
    “…PURPOSE: To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi. …”
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    BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi
  20. 2420
    “…Among these variants, 74.4% mutations (32/43) were de novo and 60.5% mutations (26/43) were novel. …”
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    Novel and de novo mutations in pediatric refractory epilepsy
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