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  1. 1281
    “…Lung adenocarcinoma is comprised of distinct mutational subtypes characterized by mutually exclusive oncogenic mutations in RTK/RAS pathway members KRAS, EGFR, BRAF and ERBB2, and translocations involving ALK, RET and ROS1. …”
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    Oncogenic RIT1 mutations in lung adenocarcinoma
  2. 1282
    “…In particular, the protein mutations are mapped onto the views together with further functional and structural information. …”
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    Integrative visual analysis of protein sequence mutations
  3. 1283
    “…We therefore hypothesized that mutations in ANG may also contribute to idiopathic Parkinson's disease (PD). …”
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    Mutational Analysis of Angiogenin Gene in Parkinson's Disease
  4. 1284
    “…To reveal the clonal architecture of melanoma and associated driver mutations, whole genome sequencing (WGS) and targeted extension sequencing were used to characterize 124 melanoma cases. …”
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    Clonal Architectures and Driver Mutations in Metastatic Melanomas
  5. 1285
    “…Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. …”
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    Ataluren treatment of patients with nonsense mutation dystrophinopathy
  6. 1286
    por Roszik, Jason, Woodman, Scott E
    Publicado 2014
    “…BACKGROUND: Driver mutations are positively selected during the evolution of cancers. …”
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    HotSpotter: efficient visualization of driver mutations
  7. 1287
    “…We found that the rate at which genes accumulate rare mutations is beneficial information for prioritizing candidates. …”
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    FLAGS, frequently mutated genes in public exomes
  8. 1288
    “…We detected nine new mutations, each one affecting a single site in a single offspring. …”
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    Estimation of the Spontaneous Mutation Rate in Heliconius melpomene
  9. 1289
    por Ha, Jung-Sook, Kim, Yu-Kyung
    Publicado 2015
    “…BACKGROUND: Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). …”
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    Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
  10. 1290
    “…Applying novel bioinformatics analysis on influenza mutational spectra, we provide a platform for a comprehensive analysis of the spontaneous mutation spectra for an RNA virus.…”
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    Comparative mutational analyses of influenza A viruses
  11. 1291
    “…Patients with targetable mutations were referred to appropriate clinical trials. …”
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    Mutation Profiling in Cholangiocarcinoma: Prognostic and Therapeutic Implications
  12. 1292
    “…That is, the mutation operator sharpens the convergence and it tunes the best possible solution. …”
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    Chaotic Particle Swarm Optimization with Mutation for Classification
  13. 1293
    “…We chose repetitive microsatellite DNA that mutates (unlike point mutations) only as a result of cellular replication, providing us with a natural ‘cell-cycle counter’. …”
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    Elevated germline mutation rate in teenage fathers
  14. 1294
    “…In this review, we summarize the relationship of oxidative stress-induced mitochondrial dysfunction with mtDNA mutation in neurodegenerative disorders.…”
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    The role of mitochondrial DNA mutation on neurodegenerative diseases
  15. 1295
    “…Mutator phenotypes accelerate the evolutionary process of neoplastic transformation. …”
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    Volatility of Mutator Phenotypes at Single Cell Resolution
  16. 1296
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    Combined immunodeficiency associated DOCK8 mutations
  17. 1297
    “…This analysis identifies a second class of candidate genes (e.g., RIMS1, CUL7, and LZTR1) where transmitted mutations may create a sensitized background but are unlikely to be completely penetrant.…”
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    Excess of rare, inherited truncating mutations in autism
  18. 1298
    “…Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis. PRPS1 gene mutations have been implicated in a number of human diseases. …”
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    Association of PRPS1 Mutations with Disease Phenotypes
  19. 1299
    “…An important question is whether the oncogenic activity of mutated TRβ1 is uniquely dependent on the PV mutated sequence. …”
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    Oncogenic mutations of thyroid hormone receptor β
  20. 1300
    “…To address this problem, I-COMS (interprotein COrrelated Mutations Server) is presented. I-COMS allows to estimate covariation between residues of different proteins by four different covariation methods. …”
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    I-COMS: Interprotein-COrrelated Mutations Server
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