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  1. 1241
    “…Affected cases in three families harbor either nonsense or frameshifting likely pathogenic variants predicted to undergo nonsense mediated decay. …”
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    Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
  2. 1242
    “…CONCLUSION: Here, we report a novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome sequencing, which caused ChAc in a Moroccan family. …”
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    Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report
  3. 1243
    “…We identified predicted heterozygous loss-of-function CASR variants (6 different nonsense/frameshift variants and 12 different missense variants) in 38 unrelated individuals, 21 of whom were hypercalcemic. …”
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    Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
  4. 1244
    Publicado 2018
    “…SPTA1 and EPB42 mutation was not fou nd in any patient. Nonsense mutations (36.8%) and missense mutations (31.6%) were most common. …”
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    37例遗传性球形细胞增多症基因突变特征分析
  5. 1245
    “…BACKGROUND: In three recent studies, Maul demonstrated that sets of nonsense items can acquire excellent psychometric properties. …”
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    A valid and reliable measure of nothing: disentangling the “Gavagai effect” in survey data
  6. 1246
    “…The genetic analysis of 19 genes known to cause FSGS identified a heterozygous de novo nonsense mutation of PAX2 in exon 4 (NM_003990.3:c.430C>T and NP_003981.2:p.Gln144Ter). …”
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    PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient
  7. 1247
    “…In an unselected, well-defined cohort of PUP with SHB, the cumulative inhibitor incidence was 10.2% at 500 ED. Nonsense mutations and large deletions were strongly associated with the risk of inhibitor development. …”
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    Inhibitor incidence in an unselected cohort of previously untreated patients with severe hemophilia B: a PedNet study
  8. 1248
    “…Based on the WES results of 3 patients and 2 healthy relatives from a family, the germline nonsense variant (c.1588A>T; p.K530X) of the DUOX2 gene was speculated to play a decisive role in the pedigree in relation to adenomatous polyposis. …”
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    A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis
  9. 1249
    “…In a total of 102 alterations (37 nonsense, 35 missense, 8 frameshift and 22 amplifications), 30 nucleotide alterations (24 nonsense, 1 missense, and 5 frameshift) were newly identified. …”
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    Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression
  10. 1250
    “…In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1. …”
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    Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
  11. 1251
    “…According to the ACMG/AMP guidelines, the pathogenicity level of novel variants was annotated. RESULTS: The nonsense pathogenic variant (c.1200C > G (p.Y400*)) and a duplication (c.1549_1574dup (p.I525 Mfs*102)) were found in the SUOX gene in the proband. …”
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    Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree
  12. 1252
    “…In vitro analyses have demonstrated that the nonsense variant, p.Gln686(∗), results in a truncated protein with remarkably increased expression compared to that of the wild type. …”
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    Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy
  13. 1253
    “…We identified seven somatic KMT2D mutations in the exploratory cohort (n = 16 tumors), including three nonsense mutations, two frameshift indels, one missense mutation, and one splice site mutation. …”
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    Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D
  14. 1254
    “…Molecular analyses of TNNT1 revealed a homozygous deletion of exons 8 and 9 in patient 1; a heterozygous nonsense mutation in exon 9 and retention of part of intron 4 in muscle transcripts in patient 2; and a homozygous, very early nonsense mutation in patient 3. …”
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    Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
  15. 1255
    “…METHODS: We present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. …”
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    Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
  16. 1256
    “…The F508del causes deletion of the phenylalanine residue at position 508 and is associated with impaired CFTR protein folding. The G542X is a nonsense mutation that introduces a stop codon into the mRNA, thus preventing normal CFTR protein synthesis. …”
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    Sheep models of F508del and G542X cystic fibrosis mutations show cellular responses to human therapeutics
  17. 1257
    “…Nonsense mutations, which occur in ∼11% of patients with genetic disorders, introduce premature termination codons (PTCs) that lead to truncated proteins and promote nonsense-mediated mRNA decay. …”
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    Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903
  18. 1258
    “…In eukaryotic cells, a mRNA quality control mechanism called nonsense-mediated mRNA decay (NMD) functions not only to eliminate abnormal mRNAs with nonsense codons but also to target virus-derived RNAs. …”
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    Elucidation of the Mechanism of Host NMD Suppression by HTLV-1 Rex: Dissection of Rex to Identify the NMD Inhibitory Domain
  19. 1259
    “…For case RP-3051 of Spanish ancestry, clinical exome sequencing focusing on the morbid genome highlighted a homozygous nonsense mutation in NRL, c.238C>T, p.Gln80*, as the most likely disease candidate. …”
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    Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa
  20. 1260
    “…Totally, TSC2 mutations were reported in 19 cases (7 frameshift mutations, 10 nonsense mutations, and 2 missense mutations), TSC1 mutations were reported in 4 cases (4 nonsense mutations), and 4 cases were genetically negative. …”
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    Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China
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