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  1. 1341
    “…All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.…”
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    Identifying mutations in Tunisian families with retinal dystrophy
  2. 1342
    “…The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and several skeletal muscle diseases. …”
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    Increasing Role of Titin Mutations in Neuromuscular Disorders
  3. 1343
    “…BACKGROUND: One of the greatest challenges in cancer genomics is to distinguish driver mutations from passenger mutations. Whereas recurrence is a hallmark of driver mutations, it is difficult to observe recurring noncoding mutations owing to a limited amount of whole-genome sequenced samples. …”
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    Predicting the recurrence of noncoding regulatory mutations in cancer
  4. 1344
    “…Mutation of the DNA molecule is one of the most fundamental processes in biology. …”
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    Multi-nucleotide de novo Mutations in Humans
  5. 1345
    “…METHODS: Genetic testing and reports of the mutations in the Chinese population are still limited. …”
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    Mutation detection in Chinese patients with familial hypercholesterolemia
  6. 1346
    “…Neuroblastoma is characterized by a relative paucity of recurrent somatic mutations at diagnosis. However, recent studies have shown that the mutational burden increases at relapse, likely as a result of clonal evolution of mutation-carrying cells during primary treatment. …”
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    Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome
  7. 1347
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    Mutation hotspots in cis-regulatory regions in cancer
  8. 1348
    “…Next-generation sequencing technologies (NGST) are being used to discover causal mutations in ethyl methanesulfonate (EMS)-mutagenized plant populations. …”
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    Simultaneous Identification of Multiple Causal Mutations in Rice
  9. 1349
    “…Experimental models that recapitulate mutational landscapes of human cancers are needed to decipher the rapidly expanding data on human somatic mutations. …”
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    Modelling mutational landscapes of human cancers in vitro
  10. 1350
    “…RESULTS: We identified 24 somatic mutations in the mtDNA of 12 patient-derived pancreatic cancer cell lines (PDCLs). …”
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    Mitochondrial mutations and metabolic adaptation in pancreatic cancer
  11. 1351
    “…Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. …”
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    Filaggrin Mutation in Korean Patients with Atopic Dermatitis
  12. 1352
    por Hua, Xia, Bromham, Lindell
    Publicado 2017
    “…Here we draw together empirical studies and theoretical concepts that may help to build links in the explanatory chain that connects mutation to diversification. First we consider the way that mutation rates vary between species. …”
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    Darwinism for the Genomic Age: Connecting Mutation to Diversification
  13. 1353
    “…BACKGROUND: Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy. …”
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    Validation of an NGS mutation detection panel for melanoma
  14. 1354
    “…BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. …”
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    Mitochondrial mutations in maternally inherited hearing loss
  15. 1355
    “…By analyzing whole-genome sequencing data from 816 trio families, for the first time, we observed the role of fetal de novo mutations in PTB. We observed a significant increase in de novo mutation burden in PTB fetal genomes. …”
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    Fetal de novo mutations and preterm birth
  16. 1356
    “…Through whole exome sequencing in a Chinese pedigree with POI, we identified a novel homozygous missense mutation (ENST00000375755: c.1459G > T, p.D487Y) in the MSH5 gene in two sisters with POI. …”
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    Mutations in MSH5 in primary ovarian insufficiency
  17. 1357
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    Mitochondrial DNA mutations in Parkinson's disease brain
  18. 1358
    “…This allowed us to uncover exquisite details on the molecular mechanism behind their adaptation: most mutations were located in just a few hotspots in the genome, and over time, mutations increasingly were consistent with the involvement of 8-oxo-guanosine, formed exclusively on the transcribed strand. …”
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    Generation of mutation hotspots in ageing bacterial colonies
  19. 1359
    por Scally, Aylwyn
    Publicado 2017
    “…An analysis of worldwide human genetic variation reveals the footprints of ancient changes in genomic mutation processes.…”
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    Global clues to the nature of genomic mutations in humans
  20. 1360
    “…BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. …”
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    PIGO deficiency: palmoplantar keratoderma and novel mutations
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