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Mostrando 221 - 240 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.58s Limitar resultados
  1. 221
    por Trosko, James E., Carruba, Giuseppe
    Publicado 2017
    “…It has been proposed that many human cancers are generated by intrinsic mechanisms that produce “Bad Luck” mutations by the proliferation of organ-specific adult stem cells. …”
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    “Bad Luck Mutations”: DNA Mutations Are not the Whole Answer to Understanding Cancer Risk
  2. 222
    “…These results imply the evolution of variable mutation spectra in the face of similar mutation rates in yeasts.…”
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    Similar Mutation Rates but Highly Diverse Mutation Spectra in Ascomycete and Basidiomycete Yeasts
  3. 223
    “…SUMMARY: Identifying genomic regions with higher than expected mutation count is useful for cancer driver detection. …”
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    MOAT: efficient detection of highly mutated regions with the Mutations Overburdening Annotations Tool
  4. 224
    “…Mutation acquisition is a major mechanism of bacterial antibiotic resistance that remains insufficiently characterised. …”
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    Comprehensive antibiotic-linked mutation assessment by resistance mutation sequencing (RM-seq)
  5. 225
    “…The present study was aimed at investigating the mutational profiles of synchronous/metachronous MLC and to compare the classification of paired tumors by multiplex gene mutation analysis with the histopathological evaluation. …”
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    Comparative mutational evaluation of multiple lung cancers by multiplex oncogene mutation analysis
  6. 226
    “…We benchmarked NeoMutate by simulating more than 10,000 bona fide cancer-related mutations into three well-characterized Genome in a Bottle (GIAB) reference samples. …”
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    NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer
  7. 227
    “…These findings revealed that the somatic mutation hit on the germline mutation increase the tumor incidence, suggesting that the somatic mutation should be avoided if the germline mutation exists in one body.…”
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    The Somatic Mutation Hit on Top of Genetic APC mutations Cause Skin Tumor()
  8. 228
    “…Strong mutation rate variation persists for >1,000 generations, with coexistence between lineages carrying 4 to >600 mutations. …”
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    Low mutational load and high mutation rate variation in gut commensal bacteria
  9. 229
    “…[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT) and analyzed whether the recurring mechanisms for each mutation are due to founder effects or mutational hot spots. …”
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    Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
  10. 230
    “…In total, ~85% of malignant gastrointestinal stromal tumours (GISTs) harbour activating mutations in one of the genes KIT or PDGFRA, while 10-15% of all GISTs have no detectable KIT or PDGFRA mutations, but could have alterations in genes of the succinate dehydrogenase complex or in BRAF, PIK3CA or rarely RAS family genes. …”
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    Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours
  11. 231
    “…However, the influence of hypoxia on the mutational burden of the genome is not fully understood. …”
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    Hypoxia increases mutational load of breast cancer cells through frameshift mutations
  12. 232
    “…Tumor mutation burden (TMB) is an emerging biomarker, whose calculation requires targeted sequencing of many genes. …”
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    Spontaneous mutations in the single TTN gene represent high tumor mutation burden
  13. 233
    “…Nucleophosmin is commonly both over-expressed and mutated in acute myeloid leukemia (AML). NPM1 mutations are always heterozygous. …”
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    Preferential transcription of the mutated allele in NPM1 mutated acute myeloid leukaemia
  14. 234
    por Sun, Jiewen, Yu, Wenjuan, Zhang, Xiang
    Publicado 2020
    “…However, the distribution and function of SETD2 mutation in AML remained largely unknown. Herein, we integrated SETD2-mutated AML cases from our center and literature reports, and found that NPM1 mutation was the most common concomitant genetic alteration with SETD2 mutation in AML, with its frequency even higher than MLL rearrangement and AML1-ETO. …”
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    Recurrent SETD2 mutation in NPM1-mutated acute myeloid leukemia
  15. 235
    “…Recurrent somatic mutations in ETNK1 (Ethanolamine-Kinase-1) were identified in several myeloid malignancies and are responsible for a reduced enzymatic activity. …”
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    ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine
  16. 236
    “…Mutations that compromise mismatch repair (MMR) or DNA polymerase ε or δ exonuclease domains produce mutator phenotypes capable of fueling cancer evolution. …”
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    Rate volatility and asymmetric segregation diversify mutation burden in cells with mutator alleles
  17. 237
    “…Recently, we identified biallelic mutations in CDC20 that are responsible for human oocyte maturation arrest, fertilization failure, and early embryonic development arrest. …”
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    Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility
  18. 238
    “…In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is currently emerging as an area attracting high research interest. …”
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    Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
  19. 239
    “…Here we review experimental evidence and models of information maintenance that explain why elevated mutation rates have been preserved during the evolution of RNA (and some DNA) viruses. …”
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    Mutation Rates, Mutation Frequencies, and Proofreading-Repair Activities in RNA Virus Genetics
  20. 240
    “…INTRODUCTION: Mismatch repair (MMR)-deficient and DNA polymerase epsilon (POLE)-mutated tumors exhibit a high tumor mutation burden (TMB) and have been proven to be associated with good responses to immune checkpoint inhibitor treatments. …”
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    Distinct mutational profile and immune microenvironment in microsatellite-unstable and POLE-mutated tumors
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