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  1. 2561
    “…METHODS: The mdx mouse model of muscular dystrophy has a nonsense mutation in exon 23 of the dystrophin gene. …”
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    Induction of revertant fibres in the mdx mouse using antisense oligonucleotides
  2. 2562
    “…These new mutations were c.1174delTG (in exon 10), c.710delC (exon 6), c.406delTT (exon 5) and c.393insTCAGC (exon 5). The other nonsense mutation, a transition (c.1080C>T) in exon 9, has been reported previously as a mutation hotspot for PAX6 in other ethnic pedigrees. …”
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    Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
  3. 2563
    “…While most of these inactive genes are identified via coding frame (nonsense) disruptions, seemingly intact genes may also be inactive due to other deleterious (missense) mutations. …”
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    A probabilistic classifier for olfactory receptor pseudogenes
  4. 2564
    “…RESULTS: No missense or nonsense mutations in ADIPOR1 and ADIPOR2 were detected in the cohort of patients with severe insulin resistance. …”
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    Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations
  5. 2565
    “…A significant number of nonsense mutations suggests the absence of purifying selection following mutation. …”
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    Role of APOBEC3 in Genetic Diversity among Endogenous Murine Leukemia Viruses
  6. 2566
    “…RESULTS: A previously described nonsense mutation [243 T>A (S81X)] in exon 4 of CDK5RAP2 gene has been identified in the Pakistani family, presented here, with MCPH Phenotype. …”
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    Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly
  7. 2567
    “…Three putative null alleles, two nonsense mutations and a deletion, all cause recessive, non–temperature-sensitive lethality at the threefold stage of embryogenesis. …”
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    Characterization of α1(IV) Collagen Mutations in Caenorhabditis elegans and the Effects of α1 and α2(IV) Mutations on Type IV Collagen Distribution
  8. 2568
    “…In addition to confirming the lack of ApxI toxin, identification of a nonsense mutation in apxIVA and a 5′-proximal truncation of the flp operon deleting both its promoter and the flp1flp2tadV genes have provided convincing scenarios for the low virulence property of JL03. …”
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    Genome Biology of Actinobacillus pleuropneumoniae JL03, an Isolate of Serotype 3 Prevalent in China
  9. 2569
    Publicado 1992
    “…Mlc2E38 is a null mutation of the MLC-2 gene resulting from a nonsense mutation at the tenth codon position. Mlc2E38 confers dominant flightless behavior that is associated with reduced wing beat frequency. …”
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    Myosin light chain-2 mutation affects flight, wing beat frequency, and indirect flight muscle contraction kinetics in Drosophila
  10. 2570
    “…It displays composite characteristics of an internal/terminal exon and possesses stop codons triggering nonsense-mediated mRNA decay (NMD) in LHCGR. Transcripts including exon 6A are physiologically highly expressed in human testes and granulosa cells, and result in an intracellular, truncated LHCGR protein of 209 amino acids. …”
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    Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism
  11. 2571
    “…Approximately eighteen percent of the proviral clones derived from infected PBMCs were defective, i.e. 5.5% contained single nucleotide deletions (frameshift mutations) and 12.8% encoded in-frame stop codons (nonsense mutations). Amino acid substitutions in PR and the polymerase region of RT occurred in 12–15% of cases but were much less frequent in the RNase H region of RT, which might not have been under drug selection pressure. …”
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    Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report
  12. 2572
    “…More than 50% of transitional cell carcinomas of the bladder show loss of heterozygosity of a region spanning the TSC1 locus at 9q34 and mutations of TSC1 have been identified in 14.5% of tumours. These comprise nonsense mutations, splicing mutations, small deletions and missense mutations. …”
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    Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms
  13. 2573
    “…This includes six missense mutations (CRYAA-R12C, R21W, R54C, CRYAB- A171T, CRYGC-R168W, CRYGS- S39C), two nonsense mutations (CRYBB2- Q155X, CRYGD- R140X), and one splice mutation, which was identified in two families (CRYBA1-IVS3+1G>A). …”
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    Crystallin gene mutations in Indian families with inherited pediatric cataract
  14. 2574
    “…The molecular basis of ALS-associated toxicity of the mutant SOD1 is not fully understood. Here, we show that nonsense-mediated mRNA decay (NMD) underlies clearance of mutant mRNA with a PTC in the non-terminal exons. …”
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    Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach
  15. 2575
    “…The patient was a compound heterozygote with a nonsense mutation of c.263T>G, resulting in an amino acid change of p.Leu88X in exon 3. …”
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    Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
  16. 2576
    “…A novel heterozygous nonsense mutation c.2197C>T(p.R733X)was detected in family F2. …”
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    Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy
  17. 2577
    “…To date, mutation analyses have suggested a broad genotype–phenotype correlation in which missense and nonsense mutations occurring throughout IRF6 may cause VWS; in contrast, PPS-causing mutations are highly associated with the DNA-binding domain, and appear to preferentially affect residues that are predicted to interact directly with the DNA. …”
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    Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
  18. 2578
    “…All but one of the mutations lead to the use of a premature termination codon, 23 were nonsense mutations, 28 deletions or insertions, 5 splicing, and 1 was a translocation. …”
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    The molecular landscape of ASPM mutations in primary microcephaly
  19. 2579
    “…CONCLUSIONS: In conclusion, we report a novel nonsense mutation (Y56X) in CRYGD and a previously reported missense mutation (R12C) in CRYAA associated with nuclear cataract in Brazilian families. …”
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    Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
  20. 2580
    “…The female partner has a nonsense mutation in the exon 9 of the OTC gene (R320X). …”
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    Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report
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