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  1. 2161
    “…BACKGROUND: Structural mutations (SMs) play a major role in cancer development. …”
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    Functional chromatin features are associated with structural mutations in cancer
  2. 2162
    “…TCs (62%; 29/47) showed higher incidence of somatic non-synonymous mutations than thymomas (13%; 4/31; p < 0.0001). TP53 was the most frequently mutated gene in TETs (n = 13; 17%), especially in TCs (26%), and was associated with a poorer overall survival (p < 0.0001). …”
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    Mutations of epigenetic regulatory genes are common in thymic carcinomas
  3. 2163
    “…BACKGROUND: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations. …”
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    Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations
  4. 2164
    “…BACKGROUND: Viruses are typically characterized by high mutation rates, which allow them to quickly develop drug-resistant mutations. …”
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    Predicting virus mutations through statistical relational learning
  5. 2165
    “…Sequencing the entire viral genome revealed several mutations in the vpu and envelope genes, among which mutations Vpu34 and EnvG367E together enable efficient HIV-1 replication in IFITM1-expressing cells. …”
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    HIV-1 mutates to evade IFITM1 restriction
  6. 2166
    por Soong, Chen-Pang, Arnold, Andrew
    Publicado 2014
    “…The intragenic specificity of these recurrently selected mutations, their confirmed expression within the tumors, the absence of loss of heterozygosity, and the absence of these mutations among over 4000 ZFX alleles in the dbSNP137 database, strongly suggest a novel role for ZFX as a human proto-oncogene. …”
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    Recurrent ZFX mutations in human sporadic parathyroid adenomas
  7. 2167
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    New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
  8. 2168
    “…Mutations accumulate during all stages of growth, but only germ line mutations contribute to evolution. …”
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    Elevated Mutation Rate during Meiosis in Saccharomyces cerevisiae
  9. 2169
    “…Complete human genome sequencing was used to identify the causative mutation in a family with Pollitt syndrome (MIM #275550), comprising two non-consanguineous parents and their two affected children. …”
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    Pollitt syndrome patients carry mutation in TTDN1
  10. 2170
    “…We examined whether POLE proofreading mutations, recently reported in about 7% of ECs, predict prognosis. …”
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    Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer
  11. 2171
    “…BACKGROUND: The importance of mutations in disease phenotype has been studied, with information available in databases such as OMIM. …”
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    Protein sector analysis for the clustering of disease-associated mutations
  12. 2172
    por Corbin, Laura J, Timpson, Nicholas J
    Publicado 2015
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    Using inactivating mutations to provide insight into drug action
  13. 2173
    “…Taken together, this work contributes to our understanding of the importance of mutational bias and selection in shaping the intron distribution in eukaryotic genomes.…”
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    Intron evolution in Neurospora: the role of mutational bias and selection
  14. 2174
    “…We confirm the extrachromosomal origin of such mutations by showing that wild type and mutated DMs may coexist in the same tumor. …”
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    Extrachromosomal driver mutations in glioblastoma and low grade glioma
  15. 2175
    por Soong, Chen-Pang, Arnold, Andrew
    Publicado 2014
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    Recurrent ZFX mutations in human sporadic parathyroid adenomas
  16. 2176
    “…The origin of mutations is central to understanding evolution and of key relevance to health. …”
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    Lagging strand replication shapes the mutational landscape of the genome
  17. 2177
    “…Histopathological findings from the hypopigmented patch on the face were consistent with vitiligo. Mutation analysis showed a KIT mutation in exon 17 (Y823D). …”
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    Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo
  18. 2178
    “…The ‘PTMVar’ dataset, an intersect of missense mutations and PTMs from PSP, identifies over 25 000 PTMVars (PTMs Impacted by Variants) that can rewire signaling pathways. …”
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    PhosphoSitePlus, 2014: mutations, PTMs and recalibrations
  19. 2179
    “…Here, we show that RNA chaperones can also act as mutation buffers that enhance organismal fitness. Using competition assays, we demonstrate that overexpression of select RNA chaperones, including three DEAD box RNA helicases (DBRHs) (CsdA, SrmB, RhlB) and the cold shock protein CspA, improves fitness of two independently evolved Escherichia coli mutator strains that have accumulated deleterious mutations during short- and long-term laboratory evolution. …”
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    RNA chaperones buffer deleterious mutations in E. coli
  20. 2180
    “…We also discuss whether mutations alter the structure and pharmacological properties of GPCRs.…”
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    Stabilization of G protein-coupled receptors by point mutations
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