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Mostrando 501 - 520 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.23s Limitar resultados
  1. 501
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    P53 mutations in breast and ovarian carcinomas from BRCA1 and 2 mutation carriers and noncarriers
  2. 502
    “…Different studies have suggested that mutation rate varies at different positions in the genome. …”
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    Escherichia coli Frameshift Mutation Rate Depends on the Chromosomal Context but Not on the GATC Content Near the Mutation Site
  3. 503
    “…We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carriers. Routine clinical echocardiography and 3 Tesla cardiac MRI were performed on ten m.3243A>G mutation carriers and compared to age and gender matched controls, with contemporaneous quadriceps muscle biopsies to measure respiratory chain activity and mtDNA mutation levels. …”
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    Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
  4. 504
    “…A total of 358 family members were also found to carry this mutation, resulting in a total of 459 mutation carriers. …”
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    Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
  5. 505
    “…A sensitive, specific, low-cost assay to detect these mutations is needed. RESULTS: To detect BRAF V600E mutation in formalin-fixed, paraffin-embedded (FFPE) tissue, we developed a method using Amplification Refractory Mutation System (ARMS)-PCR. …”
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    Sensitive detection of BRAF V600E mutation by Amplification Refractory Mutation System (ARMS)-PCR
  6. 506
    “…In order to verify the reproducibility of the homemade mutation standard using DHPLC, 15 different experiments were performed to compare the homemade mutation standard, the WAVE Low Range Mutation Standard with a positive DNA control sample. …”
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    DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis
  7. 507
    por Kvikstad, Erika M., Duret, Laurent
    Publicado 2014
    “…Elucidating the mechanisms of mutation accumulation and fixation is critical to understand the nature of genetic variation and its contribution to genome evolution. …”
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    Strong Heterogeneity in Mutation Rate Causes Misleading Hallmarks of Natural Selection on Indel Mutations in the Human Genome
  8. 508
    “…The patient's mother had the identical misssense mutation which was confined by the nonsense mutation. …”
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    Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis
  9. 509
    por Guo, Lei, Liang, Pei, Zhou, Xuguo, Gao, Xiwu
    Publicado 2014
    “…Frequency analysis of all four mutations in this field population showed that the three new mutations showed a high frequency of 100%, while the G4946E had a frequency of 20%. …”
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    Novel mutations and mutation combinations of ryanodine receptor in a chlorantraniliprole resistant population of Plutella xylostella (L.)
  10. 510
    “…BACKGROUND: Activated PI3K-AKT pathway may contribute to decrease sensitivity to inhibitors of key pathogenetic effectors (mutated BRAF, active NRAS or MEK) in melanoma. Functional alterations are deeply involved in PI3K-AKT activation, with a minimal role reported for mutations in PIK3CA, the catalytic subunit of the PI3K gene. …”
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    Activating PIK3CA mutations coexist with BRAF or NRAS mutations in a limited fraction of melanomas
  11. 511
    “…Among genes involved in the TP53 pathway, we found frequent mutations in ATM (n=18), TP53 (n=10) and NOTCH1 (n=10) genes, rare mutations of NOTCH2 (n=2) and CDKN1A/p21 (n=1) and no mutations in BAX, MDM2, TNFRSF10A and TNFRSF10B genes. …”
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    The p53 transcriptional pathway is preserved in ATM(mutated) and NOTCH1(mutated) chronic lymphocytic leukemias
  12. 512
    “…During this drift, multiple mutations gradually accumulated. Deep sequencing of the drifted gene ensembles allowed determination of the relative effects of all possible single nucleotide mutations. …”
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    Systematic Mapping of Protein Mutational Space by Prolonged Drift Reveals the Deleterious Effects of Seemingly Neutral Mutations
  13. 513
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    Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective
  14. 514
    “…This study aimed to compare the target gene mutational pattern in microsatellite instability (MSI) CRC from Lynch syndrome patients stratified by tumour location and germline mutation, as well as with that of sporadic disease. …”
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    Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
  15. 515
    “…The mutational profiles of primary colorectal cancers (CRCs) and corresponding ovarian metastases were compared. …”
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    Somatic mutation profiles in primary colorectal cancers and matching ovarian metastases: Identification of driver and passenger mutations
  16. 516
    “…In eight affected individuals from different ethnicities, we found seven novel pathogenic mutations in PGAP3. Besides five missense mutations, we identified an intronic mutation, c.558‐10G>A, that causes an aberrant splice product and a mutation in the 3′UTR, c.*559C>T, that is associated with substantially lower mRNA levels. …”
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    Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
  17. 517
    “…Rapidly Mutating Y-STRs (RM Y-STRs) were recently introduced in forensics in order to increase the differentiation of Y-chromosomal profiles even in case of close relatives. …”
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    Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals
  18. 518
    “…BACKGROUND: Studies of de novo mutations offer great promise to improve our understanding of human disease. …”
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    De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
  19. 519
    “…Mutations in the Ataxia-telangiectasia mutated (ATM) gene are frequently found in human cancers, including non-small cell lung cancer (NSCLC). …”
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    Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer
  20. 520
    “…In this USP8-mutated tumor, we identified an interesting somatic mutation in the gene RASD1, which is a component of the corticotropin-releasing hormone receptor signaling system. …”
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    Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma
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