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Mostrando 721 - 740 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.17s Limitar resultados
  1. 721
    “…Transcripts containing PTC may be degraded by nonsense-mediated mRNA decay (NMD), however very little is known about an effect of OPA1 mutations on NMD activation. …”
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    Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
  2. 722
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    Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
  3. 723
    “…Five of the seven lines showed evidence of altered mRNA processing: one through a skipped exon that did not lead to a frame shift, one through nonsense-associated splicing that did not lead to a frame shift, and three through the use of cryptic splice sites. …”
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    mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay
  4. 724
    “…DIAGNOSIS: One heterozygous mutation of SPTB was identified by targeted next-generation sequencing (NGS). The nonsense mutation, c.1956G>A (p.Trp652∗), in exon 13 was confirmed by Sanger sequencing and thus the proband was diagnosed with HS. …”
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    Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family
  5. 725
    por Lance, Sean, Mossman, Stuart, Poke, Gemma
    Publicado 2018
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    A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352(⁎))] Causing Episodic Ataxia Type 2
  6. 726
    “…We have evidence that the multifunctional viral translation transactivator/viroplasmin (TAV) protein from Cauliflower mosaic virus (CaMV) can function as a suppressor of nonsense-mediated mRNA decay (NMD). TAV interacts specifically with a scaffold protein of the decapping complex VARICOSE (VCS) in the yeast two-hybrid system, and co-localizes with components of the decapping complex in planta. …”
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    Cauliflower mosaic virus transactivator protein (TAV) can suppress nonsense-mediated decay by targeting VARICOSE, a scaffold protein of the decapping complex
  7. 727
    “…Eventually, he was found to have the novel homozygous nonsense mutation p.K1374* in the TG gene. The possibility of TG mutation should be considered for patients with congenital primary hypothyroidism and a very low serum TG level, regardless of the thyroid size.…”
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    Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement
  8. 728
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    Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene
  9. 729
    “…The nonsense-mediated decay (NMD) pathway presents a challenge for RNA viruses with termination codons that precede extended 3′ untranslated regions (UTRs). …”
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    The Multifunctional Long-Distance Movement Protein of Pea Enation Mosaic Virus 2 Protects Viral and Host Transcripts from Nonsense-Mediated Decay
  10. 730
    “…Nonsense-mediated decay (NMD) plays a fundamental role in the degradation of premature termination codon (PTC)-containing transcripts, but also regulates the expression of functional transcripts lacking PTCs, although such ‘non-canonical’ functions remain ill-defined and require the identification of factors targeting specific mRNAs to the NMD machinery. …”
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    The mRNA repressor TRIM71 cooperates with Nonsense-Mediated Decay factors to destabilize the mRNA of CDKN1A/p21
  11. 731
    “…Human full length NPR2 gene and sequence with nonsense mutation was amplified by using Myc-tagged pXN vector and transformed in E. coli DH5α cells to confirm mutation. …”
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    A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)
  12. 732
    “…RESULTS: Clinical exome sequencing data analysis led to identifying a heterozygous nonsense variant (NM_139058.3:c.922G>T; NP_620689.1:p.Glu308Ter) in the aristaless related homeobox gene (ARX) in the proband, with a putative de novo occurrence, producing a hypothetical protein lacking two essential domains. …”
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    Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance
  13. 733
    “…Within this region, a nonsense variant (RAPGEF5 c.2624C>A,p.Ser875*) was significantly associated with the hypoparathyroid phenotype (P(allelic) = 0.008). …”
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    A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
  14. 734
    “…Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that degrades aberrant mRNAs and also regulates the expression of a wide range of physiological transcripts. …”
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    Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM
  15. 735
    “…Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. …”
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    New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
  16. 736
    “…For many known AS-NMD targets, the nonsense-mediated decay-linked alternative splicing pathway predominates. …”
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    Deep sequencing of pre-translational mRNPs reveals hidden flux through evolutionarily conserved alternative splicing nonsense-mediated decay pathways
  17. 737
    “…We identified a common nonsense mutation at codon 19 (c.19C>T, p.R7X) in exon 1 (Exon1(mut)) of different HLA-A and -B alleles in HLA-lacking granulocytes from AA patients. …”
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    A frequent nonsense mutation in exon 1 across certain HLA-A and HLA-B alleles in leukocytes of patients with acquired aplastic anemia
  18. 738
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    Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
  19. 739
    “…Whole‐exome sequencing and Sanger sequencing were used to detect and confirm the variant. RESULTS: A novel nonsense variant c.1063G>T (p.E355*) in the ASXL3 gene (NM_030632.3) was identified in the proband and the clinical symptoms were compatible with BRPS. …”
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    De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature
  20. 740
    “…Recently, heterozygous HTRA1 nonsense mutations have been recognized to be pathogenic. …”
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    Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review
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