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Mostrando 2,121 - 2,140 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.10s Limitar resultados
  1. 2121
    “…In this paper, we regard the Empirical Codon Mutation (ECM) Matrix as a communication channel and compute the corresponding channel capacity. …”
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    The empirical codon mutation matrix as a communication channel
  2. 2122
    “…RESULTS: CTNNB1 mutations accounted for the majority of the mutations detected in our study. …”
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    Transcriptomic Characterization of Hepatocellular Carcinoma with CTNNB1 Mutation
  3. 2123
    “…We study invasion and survival of weakly beneficial mutations arising in linkage to an established migration–selection polymorphism. …”
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    The Effect of Linkage on Establishment and Survival of Locally Beneficial Mutations
  4. 2124
    “…Evidence suggests that BRAF mutations, like KRAS mutations, result in uncontrolled, non–growth factor-dependent cellular proliferation. …”
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    Clinical implications of BRAF mutation test in colorectal cancer
  5. 2125
    “…We stratified grade II and grade III gliomas according to the codeletion of 1p19q and IDH mutation to define three distinct prognostic subgroups: 1p19q and IDH mutated, IDH mutated—which contains mostly TP53 mutated tumors, and none of these alterations. …”
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    IDH Mutations: Genotype-Phenotype Correlation and Prognostic Impact
  6. 2126
    por Ahn, TaeJin, Park, Taesung
    Publicado 2014
    “…Functional analysis of mutational impact usually focuses on the gene expression level of the mutated gene itself. …”
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    Pathway-Driven Discovery of Rare Mutational Impact on Cancer
  7. 2127
    “…BACKGROUND: Accurate somatic mutation-calling is essential for insightful mutation analyses in cancer studies. …”
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    Combining calls from multiple somatic mutation-callers
  8. 2128
    “…In diploid organisms, selfing reduces the efficiency of selection in removing deleterious mutations from a population. This need not be the case for all organisms. …”
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    Efficient Purging of Deleterious Mutations in Plants with Haploid Selfing
  9. 2129
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    Recurrent TET2 mutations in adult T cell leukemia
  10. 2130
    “…Mutations of BMPR2 and other TGF-β superfamily genes have been reported in pulmonary arterial hypertension (PAH). …”
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    Mutations of NOTCH3 in childhood pulmonary arterial hypertension
  11. 2131
    por Velenich, Andrea, Gore, Jeff
    Publicado 2013
    “…Until very recently, studies on epistatic interactions have been based on a handful of mutations, providing at best anecdotal evidence about the frequency and the typical strength of genetic interactions. …”
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    The strength of genetic interactions scales weakly with mutational effects
  12. 2132
    “…We discovered three distinct mutational signatures in gastric cancer - against a genome-wide backdrop of oxidative and microsatellite instability-related mutational signatures, we identified the first exome-specific mutational signature. …”
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    Whole-genome reconstruction and mutational signatures in gastric cancer
  13. 2133
    “…BACKGROUND: The detailed study of breakpoints associated with copy number variants (CNVs) can elucidate the mutational mechanisms that generate them and the comparison of breakpoints across species can highlight differences in genomic architecture that may lead to lineage-specific differences in patterns of CNVs. …”
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    Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing
  14. 2134
    por Chae, Hyun-Dong, Jeon, Chang-Ho
    Publicado 2014
    “…Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. …”
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    Peutz-Jeghers syndrome with germline mutation of STK11
  15. 2135
    “…We gathered an international series of telomerase mutation carriers who underwent lung transplant in the USA, Australia and Sweden. …”
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    Lung transplantation in telomerase mutation carriers with pulmonary fibrosis
  16. 2136
    “…We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. …”
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    Abnormal retinal development associated with FRMD7 mutations
  17. 2137
    por Kamaraj, Balu, Purohit, Rituraj
    Publicado 2014
    “…Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by in silico approach. …”
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    Mutational Analysis of Oculocutaneous Albinism: A Compact Review
  18. 2138
    por Thyagarajan, Bargavi, Bloom, Jesse D
    Publicado 2014
    “…Influenza is notable for its evolutionary capacity to escape immunity targeting the viral hemagglutinin. We used deep mutational scanning to examine the extent to which a high inherent mutational tolerance contributes to this antigenic evolvability. …”
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    The inherent mutational tolerance and antigenic evolvability of influenza hemagglutinin
  19. 2139
    “…Cancer genome sequencing studies have identified numerous driver genes but the relative timing of mutations in carcinogenesis remains unclear. The gradual progression from pre-malignant Barrett’s esophagus to esophageal adenocarcinoma (EAC) provides an ideal model to study the ordering of somatic mutations. …”
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    Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis
  20. 2140
    “…We show here that in mice, an activating mutation of β-catenin in osteoblasts alters the differentiation potential of myeloid and lymphoid progenitors leading to development of acute myeloid leukemia (AML) with common chromosomal aberrations and cell autonomous progression. …”
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    Leukemogenesis Induced by an Activating β-catenin mutation in Osteoblasts
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