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Mostrando 901 - 920 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.15s Limitar resultados
  1. 901
    “…Correction of nonsense CFTR mutations via genomic editing represents a promising therapeutic approach. …”
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    Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells
  2. 902
    “…Premature termination of translation due to nonsense mutations is a frequent cause of inherited diseases. …”
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    Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon
  3. 903
    “…These nonsense mutations led to a hypermutator state, leading to dramatically elevated rates of synonymous and nonsynonymous substitutions. …”
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    A Population Genomics Approach to Assessing the Genetic Basis of Within-Host Microevolution Underlying Recurrent Cryptococcal Meningitis Infection
  4. 904
    por Dimova, Ivanka, Kremensky, Ivo
    Publicado 2018
    “…The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal. …”
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    LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
  5. 905
    “…ELX-02 was not toxic in vitro or in vivo, and permitted read-through of nonsense mutations in cystinotic mice and human cells. …”
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    The novel aminoglycoside, ELX-02, permits CTNS(W138X) translational read-through and restores lysosomal cystine efflux in cystinosis
  6. 906
    “…In conclusion, we showed that renal prognosis differs according to mutation types in both PKD1 and PKD2, and that it was favorable for those with nonsense mutations among patients with PKD1 truncating mutations. …”
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    Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations
  7. 907
    “…Our data are indicative of severe BWS phenotypes that, with variable expressivity, may be associated with both frameshift and nonsense variants of CDKN1C.…”
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    Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
  8. 908
    “…Herein, we identified a novel nonsense homozygous variant in CEP250 (c.3511C>T; p.Gln1171Ter) among the family members with progressive moderate sensorineural hearing loss in nonsyndromic autosomal recessive type but without retinal degeneration. …”
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    Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
  9. 909
    “…Nonsense mutations cause several genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman–Diamond syndrome. …”
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    Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression
  10. 910
    “…Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. …”
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    Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
  11. 911
    “…The R175, Y220, R248, R282 and nonsense mutations showed preferential distribution in certain cancer types, which varied in the age of onset. …”
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    Heterogeneity of Li-Fraumeni Syndrome links to unequal gain-of-function effects of p53 mutations
  12. 912
    “…To survey further for nonsense mutants associated with culture, genome sequences of eleven long-term laboratory-adapted parasite strains were examined, revealing four independently acquired nonsense mutations in two other ApiAP2 genes, and five in Epac. …”
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    Culture adaptation of malaria parasites selects for convergent loss-of-function mutants
  13. 913
    “…For the type of stimuli, the AD patients had better performances for words > pictures > nonsense syllables, although no differences for the HC group. …”
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    Word Processing Is Faster than Picture Processing in Alzheimer's Disease
  14. 914
    “…Missense variants correlated with a higher prevalence of ectopia lentis (p = 0.002) and earlier onset of pulmonary artery dilatation (p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter (p = 0.005). …”
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    Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
  15. 915
    “…All sentences in the original and nonsense BEL corpora were recorded by the same two male and two female talkers. …”
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    Development and Validation of Sentences Without Semantic Context to Complement the Basic English Lexicon Sentences
  16. 916
    “…The absence of truncating mutations in the 3' part of the coding region is statistically significant and is consistent with the idea that nonsense-mediated decay acts on PAX6 mutant alleles. …”
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    PAX6 mutations: genotype-phenotype correlations
  17. 917
    “…CONCLUSIONS: This study reported three novel nonsense mutations in three Indian families. These novel nonsense mutations are predicted to produce truncated dipeptidyl-peptidase I causing PLS phenotype in these families. …”
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    Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome
  18. 918
    “…A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). …”
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    Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses
  19. 919
    “…The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions. …”
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    Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
  20. 920
    “…In Experiments 1 and 3, participants learned paired associations between vocoded spoken nonsense words and nonsense pictures. In Experiment 1, paired-associates (PA) AV training of one group of participants was compared with audio-only (AO) training of another group. …”
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    Auditory Perceptual Learning for Speech Perception Can be Enhanced by Audiovisual Training
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