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Mostrando 961 - 980 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.50s Limitar resultados
  1. 961
    “…The heterozygous nonsense mutation in the STS gene is not supposed to be responsible for STS deficiency. …”
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    Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor
  2. 962
    “…(Cys304(*)), was the second reported nonsense mutation in TFAP2A gene, which was the disease-causing mutation of the family. …”
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    A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
  3. 963
    “…CONCLUSION: Our study provides a platform for higher throughput analyses of airway epithelia that is applicable in a range of settings and suggests novel avenues for drug evaluation and development in PCD caused by nonsense mutations.…”
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    Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
  4. 964
    “…The CFTR-W1282X protein has residual activity but is expressed at a very low level due to nonsense-mediated messenger RNA (mRNA) decay (NMD). …”
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    Exon-skipping antisense oligonucleotides for cystic fibrosis therapy
  5. 965
    “…RESULTS: WGS confirmed the maternally inherited RFC1 expansion and identified a rare, nonsense RFC1 variant: c.C1147T; p.R383X in the proband but not the maternal DNA sample. …”
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    Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
  6. 966
    “…Whole-exome sequencing revealed a novel nonsense variant IRF2BPL (NM_024496) Exon C.562C > T (p.Arg188*). …”
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    IRF2BPL gene variants with dystonia: one new Chinese case report
  7. 967
    “…We investigated the behavioral swim patterns associated with a nonsense mutation of the zebrafish gabra1 (sa43718 allele) gene. …”
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    Characterization of the zebrafish gabra1(sa43718/sa43718) germline loss of function allele confirms a function for Gabra1 in motility and nervous system development
  8. 968
    “…Of these variants, the p.Trp704Ter nonsense variant of EPB41 and missense p.Gly151Asp variant of SPTA1 were identified in two out of four hereditary elliptocytoses. …”
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    Five Years’ Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination
  9. 969
    “…SUMMARY: A recent article by Maher et al. in GENETICS introduces an alternative approach to cell-type-specific gene knockdown in Caenorhabditis elegans, using nonsense-mediated decay. This strategy has the potential to be applicable to other organisms (this strategy requires that animals can survive without nonsense-mediated decay—not all can). …”
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    SMG-ly Knocking Out Gene Expression in Specific Cells: An Educational Primer for Use with “A Novel Strategy for Cell-Autonomous Gene Knockdown in Caenorhabditis elegans Defines a Cell-Specific Function for the G-Protein Subunit GOA-1”
  10. 970
    “…A new approach was recently developed by Noensie and Dietz to prioritize and focus the search, making use of nonsense-mediated mRNA decay (NMD) inhibition and microarray analysis (NMD microarrays) in the identification of transcripts containing nonsense mutations. …”
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    NMD Microarray Analysis for Rapid Genome-Wide Screen of Mutated Genes in Cancer
  11. 971
    “…In this study we present a novel homozygous nonsense mutation (W121X) in LEP in a twelve year old obese male and his severely obese sister. …”
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    A novel mutation in the leptin gene (W121X) in an Egyptian family
  12. 972
    por Xue, Hong, Wong, J. Tze-Fei
    Publicado 2017
    “…Proteome-wide reassignments of nonsense codons and sense codons are also under development. …”
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    Future of the Genetic Code
  13. 973
    “…By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. …”
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    Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
  14. 974
    “…Exome sequencing revealed a novel nonsense variant in the CPT1C gene. The level of CPT1C mutant transcript significantly decreased compared to that of wild‐type transcript, and can be recovered after cycloheximide administration, which indicated that nonsense‐mediated mRNA decay was a mechanism that might be responsible for the phenotype. …”
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    A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course
  15. 975
    “…The avoidant style was positively associated with nonsense and sarcasm, while no other relationship emerged. …”
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    Humor and Attachment: Exploring the Relationships between Insecure Attachment and the Comic Styles
  16. 976
    por Simsic, Greg
    Publicado 2004
    Libro
    ¡Crear! : la guía resumida de Photoshop Elements 2
  17. 977
    Libro
    Enigmas de la psicología : las fronteras del conocimiento, personalidad y vida social
  18. 978
    “…RESULTS AND DISCUSSION: Nonsense mutation c.196C > T/p.R66X and frameshift mutation c.614_615delCT escape nonsense-mediated RNA decay (NMD), splice-site mutation c.406+2T > C results in either retention of intron 2 or activation of a cryptic splice site in exon 2. …”
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    The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
  19. 979
    “…Surprisingly, mutating a preS1 ATG codon(s) or introducing a nonsense mutation soon afterwards switched secreted p39/gp42 to a p41/p44 doublet, with its amount further increased by a nonsense mutation in the core gene. …”
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    5′ preS1 Mutations To Prevent Large Envelope Protein Expression from Hepatitis B Virus Genotype A or Genotype D Markedly Increase Polymerase-Envelope Fusion Protein
  20. 980
    por Manning, Michelle M.
    Publicado 1996
    Libro
    Delphi 2 guía oficial de Borland
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