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Mostrando 261 - 280 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.13s Limitar resultados
  1. 261
    “…Herein, a detailed protocol for a random mutation capture (RMC) assay to measure nuclear point mutation frequency in mouse tissue is described. …”
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    A random mutation capture assay to detect genomic point mutations in mouse tissue
  2. 262
    por Hay, Colin W., McEwan, Iain J.
    Publicado 2012
    “…Importantly, mutations introducing constitutive gain of function are uncommon, with the majority of mutations leading to either loss of function or no significant change from wild-type activity. …”
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    The Impact of Point Mutations in the Human Androgen Receptor: Classification of Mutations on the Basis of Transcriptional Activity
  3. 263
    por Drake, John W.
    Publicado 2012
    “…Until recently, the two predominant ways to estimate mutation rates were the specific-locus method and the mutation-accumulation (Bateman-Mukai) method. …”
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    Contrasting Mutation Rates from Specific-Locus and Long-Term Mutation-Accumulation Procedures
  4. 264
    “…The mutation detection platform, termed OncoMap v4, interrogates 474 “hotspot” mutations in 41 genes that are relevant for cancer. …”
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    High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma
  5. 265
    “…Only a few riboviral infections can be controlled with antiviral drugs, mainly because of the rapid appearance of resistance mutations. Little reliable information is available concerning i) kinds and relative frequencies of mutations (the mutational spectrum), ii) mode of genome replication and mutation accumulation, and iii) rates of spontaneous mutation. …”
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    The Three Faces of Riboviral Spontaneous Mutation: Spectrum, Mode of Genome Replication, and Mutation Rate
  6. 266
    “…Comparison of mutation combinations revealed several common mutation combinations presented across different field and permethrin selected populations in response to high levels of insecticide resistance, demonstrating that the co-existence of multiple mutations is a common event in response to insecticide resistance across different Cx. quinquefasciatus mosquito populations.…”
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    Multiple mutations and mutation combinations in the sodium channel of permethrin resistant mosquitoes, Culex quinquefasciatus
  7. 267
    “…The rate at which mutations are generated is central to the pace of evolution. …”
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    Normal Mutation Rate Variants Arise in a Mutator (Mut S) Escherichia coli Population
  8. 268
    por Peltomäki, Päivi, Vasen, Hans
    Publicado 2004
    “…The present update of the database of DNA mismatch repair gene mutations of INSiGHT includes 448 mutations that primarily involve MLH1 (50%), MSH2 (39%), and MSH6 (7%) and occur in 748 families from different parts of the world.…”
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    Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database
  9. 269
    “…Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. …”
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    The CDC Hemophilia B mutation project mutation list: a new online resource
  10. 270
    “…Recently, reports have linked mutations in genes involved in ubiquitination (RNF216, OTUD4, STUB1) to ARCA with hypogonadism. …”
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    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
  11. 271
    “…Drug development strategies target driver mutations, but inter- and intra-tumoral heterogeneity usually results in emergence of resistance. …”
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    Evolutionary triage governs fitness in driver and passenger mutations and suggests targeting never mutations
  12. 272
    “…Several homoplasmic pathologic mutations in mitochondrial DNA, such as those causing Leber hereditary optic neuropathy or non-syndromic hearing loss, show incomplete penetrance. …”
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    An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations
  13. 273
    “…We then used BSA-seq to map the mutations responsible for three ethyl methanesulfonate−induced mutant phenotypes in Saccharomyces cerevisiae. …”
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    Mapping Small Effect Mutations in Saccharomyces cerevisiae: Impacts of Experimental Design and Mutational Properties
  14. 274
    “…RESULTS: While the most common mutation was in TP53, the OTSCC genetic landscape differed from previously described cohorts of patients with head and neck tumors: OTSCCs demonstrated frequent mutations in DST and RNF213, while alterations in CDKN2A and NOTCH1 were significantly less frequent. …”
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    Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance
  15. 275
    “…BACKGROUND: Human genetic disorders and transgenic mouse models have shown that mitochondrial DNA (mtDNA) mutations and telomere dysfunction instigate the aging process. …”
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    Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice
  16. 276
    “…However, existing methods do not sufficiently delineate varying functionality of individual mutations within the same genes. RESULTS: We observed a large discordancy of mutation rates across different mutation subtypes and tumor types, and nominated 702 hotspot mutations in 549 genes in the Catalog of Somatic Mutations in Cancer (COSMIC) by considering context specific mutation characteristics such as genes, cancer types, mutation rates, mutation subtypes and sequence contexts. …”
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    Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types
  17. 277
    “…Unlike driver mutations occurring commonly in cancers as reported in the literature, the mutations detected here are relatively rare mutations occurring in less than half metastatic samples. …”
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    Integrative analysis of mutational and transcriptional profiles reveals driver mutations of metastatic breast cancers
  18. 278
    “…PURPOSE: Rett Syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations (DNMs) in MECP2 and sometimes in CDKL5 and FOXG1. …”
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    Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2
  19. 279
    “…Up to 10–30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. …”
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    MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients
  20. 280
    “…Oxidative stress is a major cause of mutation but little is known about how growth in the absence of oxygen impacts the rate and spectrum of mutations. …”
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    Anaerobically Grown Escherichia coli Has an Enhanced Mutation Rate and Distinct Mutational Spectra
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