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  1. 521
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    A Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
  2. 522
    “…Only HBV X gene and nonsense mutations of S gene (C-terminal truncation of HBV surface protein) have been demonstrated to have transforming activity. …”
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    Identification of Transforming Hepatitis B Virus S Gene Nonsense Mutations Derived from Freely Replicative Viruses in Hepatocellular Carcinoma
  3. 523
    “…Nonsense-mediated mRNA decay (NMD), which is best known for degrading mRNAs with premature termination codons (PTCs), is thought to be triggered by aberrant translation termination at stop codons located in an environment of the mRNP that is devoid of signals necessary for proper termination. …”
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    Eukaryotic Initiation Factor 4G Suppresses Nonsense-Mediated mRNA Decay by Two Genetically Separable Mechanisms
  4. 524
    “…Nonsense-mediated mRNA decay (NMD) is a post-transcriptional mechanism that targets aberrant transcripts and regulates the cellular RNA reservoir. …”
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    Smg6/Est1 licenses embryonic stem cell differentiation via nonsense-mediated mRNA decay
  5. 525
    “…Proteome analysis of purified CBs revealed components of the nonsense-mediated mRNA decay (NMD) machinery including UPF1. …”
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    Chromatoid Body Protein TDRD6 Supports Long 3’ UTR Triggered Nonsense Mediated mRNA Decay
  6. 526
    “…RESULTS: We identified a heterozygous nonsense mutation c.760C>T (p.Arg254*) in eight subjects: four with obvious and disabling MM, and four with a mild phenotype. …”
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    Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature
  7. 527
    “…The resequencing data were filtered under a recessive model against variants from 31 other dog genomes, revealing a homozygous case-specific nonsense variant in one of the known EB-causing genes, COL7A1 (c.4579C>T, p.R1527*). …”
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    Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
  8. 528
    “…We evaluated the association of a nonsense TLR5 genetic variant that truncates the receptor with clinical outcomes and with immune responses in melioidosis. …”
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    A nonsense mutation in TLR5 is associated with survival and reduced IL-10 and TNF-α levels in human melioidosis
  9. 529
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    Erratum to “A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss”
  10. 530
    “…Nonsense-mediated mRNA decay (NMD) controls gene expression by eliminating mRNAs with premature or aberrant translation termination. …”
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    Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates
  11. 531
    “…Up-Frameshift Suppressor 1 Homolog (UPF1) is a key factor for nonsense-mediated mRNA decay (NMD), a cellular process that can actively degrade mRNAs. …”
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    HTLV-1 Tax plugs and freezes UPF1 helicase leading to nonsense-mediated mRNA decay inhibition
  12. 532
    “…The term “nonsense-mediated mRNA decay” (NMD) originally described the degradation of mRNAs with premature translation–termination codons (PTCs), but its meaning has recently been extended to be a translation-dependent post-transcriptional regulator of gene expression affecting 3%–10% of all mRNAs. …”
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    Dissecting the functions of SMG5, SMG7, and PNRC2 in nonsense-mediated mRNA decay of human cells
  13. 533
    “…We identified a novel c.6892C > T (p.R2298*) nonsense mutation and a c.10251_10253delCTT (p.F3420del) deletion in MYO15A. …”
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    A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
  14. 534
    “…We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (GCKR) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type 2 diabetes; this patient developed a progressive histological form of the disease. …”
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    A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
  15. 535
    “…CONCLUSIONS: The recently reported nonsense variant c.2404C > T in the GNPTAB gene is further recognized and this contributes to the genotype-phenotype spectrum of mucolipidosis alpha/beta. …”
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    GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
  16. 536
    “…Among the various RNA regulatory machineries, nonsense-mediated mRNA decay (NMD) is a stress responsive cellular surveillance system that degrades selected mRNA substrates to prevent the translation of defective or harmful proteins. …”
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    Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity
  17. 537
    “…Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC). …”
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    Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics
  18. 538
    “…We performed genetic analysis by exome sequencing (exome-seq) in a Chinese family with AS and found four individuals harboring the COL4A4 c.4599T > G variant, a novel COL4A4 nonsense mutation that gains stop codon and results in a truncated protein. …”
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    A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
  19. 539
    “…Consonant and vowel perception is measured by repetition of 16 bisyllabic vowel-consonant-vowel nonsense words and nine monosyllabic consonant-vowel-consonant nonsense words in an open-set design. …”
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    Consonant and Vowel Confusions in Well-Performing Children and Adolescents With Cochlear Implants, Measured by a Nonsense Syllable Repetition Test
  20. 540
    “…Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. …”
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    Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
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