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  1. 1261
    “…We have previously reported the somatic mutations of the NRF2 gene (NFE2L2), however, the correlation between the Keap1 mutation and the clinicopathological features of lung cancer has not been well investigated. …”
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    Keap1 mutations in lung cancer patients
  2. 1262
    “…Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. …”
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    Congenital myopathy is caused by mutation of HACD1
  3. 1263
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    Mutation-Specific Survival of Inherited Breast Cancer
  4. 1264
    “…A major challenge for cancer genetics is to determine which low frequency somatic mutations are drivers of tumorigenesis. Here we interrogate the genomes of 7,651 diverse human cancers to identify novel drivers and find inactivating mutations in the homeodomain transcription factor CUX1 (cut-like homeobox 1) in ~1-5% of tumors. …”
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    Inactivating CUX1 mutations promote tumorigenesis
  5. 1265
    “…The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.…”
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    Sporadic Kindler Syndrome with a novel mutation
  6. 1266
    por Mahdieh, Nejat, Rabbani, Bahareh
    Publicado 2013
    “…In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. …”
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    An Overview of Mutation Detection Methods in Genetic Disorders
  7. 1267
    por Srivastava, Shweta, Dutt, Sarjana
    Publicado 2013
    “…We present here an overview of the current practice in monitoring for such mutations, including the methods used, criteria for investigating and guidelines for reporting the mutations. …”
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    Imatinib mesylate resistance and mutations: An Indian experience
  8. 1268
    “…Also, the prevalence of mutations among GluRs is highly heterogeneous, suggesting a critical role of certain subunits in PNDD pathophysiology. …”
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    Glutamate receptor mutations in psychiatric and neurodevelopmental disorders
  9. 1269
    “…Foci formation and functional consequences including Golgi fragmentation, impairment of vesicle trafficking and apoptosis were observed previously upon overexpression and/or mutation of optineurin. In the current study, a total of 15 GFP tagged constructs that included NTG (E50K and 2 bp-AG insertion), ALS (exon 5 deletion, R96L, Q398X, and E478G) and non-disease (L157A and D474N) associated mutants and a series of deletion fragments were cloned into mammalian expression vectors and transfected into RGC5 and/or Neuro2A cells to evaluate whether their expression confer the optineurin phenotypes. …”
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    Effects of mutations and deletions in the human optineurin gene
  10. 1270
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    Clinical phenotypes of MAGEL2 mutations and deletions
  11. 1271
    “…When used to find de novo mutations in exome sequences from family trios, or to compare normal and diseased samples from the same individual, the new method, direct alignment for mutation discovery (DIAMUND), produces a dramatically smaller list of candidate mutations than previous methods, without losing sensitivity to detect the true cause of a genetic disease. …”
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    DIAMUND: Direct Comparison of Genomes to Detect Mutations
  12. 1272
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    The Dynamic Mutation Characteristics of Thermonuclear Reaction in Tokamak
  13. 1273
    por Behjati, Sam, Tarpey, Patrick S, Sheldon, Helen, Martincorena, Inigo, Van Loo, Peter, Gundem, Gunes, Wedge, David C, Ramakrishna, Manasa, Cooke, Susanna L, Pillay, Nischalan, Vollan, Hans Kristian M, Papaemmanuil, Elli, Koss, Hans, Bunney, Tom D, Hardy, Claire, Joseph, Olivia R, Martin, Sancha, Mudie, Laura, Butler, Adam, Teague, Jon W, Patil, Meena, Steers, Graham, Cao, Yu, Gumbs, Curtis, Ingram, Davis, Lazar, Alexander J, Little, Latasha, Mahadeshwar, Harshad, Protopopov, Alexei, Al Sannaa, Ghadah A, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Zhang, Jianhua, Ravi, Vinod, Torres, Keila E, Khatri, Bhavisha, Halai, Dina, Roxanis, Ioannis, Baumhoer, Daniel, Tirabosco, Roberto, Amary, M Fernanda, Boshoff, Chris, McDermott, Ultan, Katan, Matilda, Stratton, Michael R, Futreal, P Andrew, Flanagan, Adrienne M, Harris, Adrian, Campbell, Peter J
    Publicado 2014
    “…We identified recurrent mutations in two genes, PTPRB and PLCG1, which are intimately linked to angiogenesis. …”
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    Recurrent PTPRB and PLCG1 mutations in angiosarcoma
  14. 1274
    “…Cohesin mutations represent a novel genetic pathway for AML, but how AML arises from these mutations is unknown. …”
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    Cohesin mutations in myeloid malignancies: underlying mechanisms
  15. 1275
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    An affective disorder in zebrafish with mutation of the glucocorticoid receptor
  16. 1276
    “…Here we review incisive reports identifying mutations in individual J protein chaperones and the proteostasis collapse that ensues.…”
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    J protein mutations and resulting proteostasis collapse
  17. 1277
    “…This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416). …”
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    Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene
  18. 1278
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    A histone point mutation that switches on autophagy
  19. 1279
    “…While mutations of AR associated with prostate cancer occur less often in early stage localized disease, mutations in castration-resistant prostate cancer (CRPC) patients treated with anti-androgens occur more frequently with 10-30% of these patients having some form of mutation in the AR. …”
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    Androgen receptor gene mutation, rearrangement, polymorphism
  20. 1280
    por He, Ningning, Kim, Nayoung, Yoon, Sukjoon
    Publicado 2013
    “…The use of various cancer cell lines can recapitulate known tumor-associated mutations and genetically define cancer subsets. This approach also enables comparative surveys of associations between cancer mutations and drug responses. …”
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    Somatic mutation patterns and compound response in cancers
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