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  1. 2101
    “…OBJECTIVE: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency. …”
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    Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
  2. 2102
    “…In this study, we generated a Col4a5 mutant mouse harboring a nonsense mutation (R471X) obtained from a patient with XLAS using clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated system. …”
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    Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation
  3. 2103
    “…This case report describes a Chinese CF patient harboring a homozygous nonsense mutation (c.1657C>T, p.R553X) who was failure to thrive and had intermittently diarrhea during the first year after birth. …”
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    Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation
  4. 2104
    “…Documented causative mutation types include missense, nonsense, copy number variation (CNV), frameshift deletions or insertions, and splicing variants. …”
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    Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome
  5. 2105
    por Zhang, Min, Yang, Da, Gold, Barry
    Publicado 2019
    “…Therefore, if a truncating nonsense mutation in a tumor suppressor, or an activating missense mutation in an oncogene, can occur due to a C > T base substitution at a CpG sequence, it is highly favored over other mutation pathways.…”
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    Origin of mutations in genes associated with human glioblastoma multiform cancer: random polymerase errors versus deamination
  6. 2106
    “…By contrast, patients with nonsense mutations are more susceptible to microcephaly. …”
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    A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review
  7. 2107
    “…All the samples with point missense variants were strongly immuno-positive, whereas, samples with nonsense and frameshift TP53 variants were immuno-negative for p53 immunohistochemical staining. …”
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    Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer
  8. 2108
    por Zhou, Zhenglong, Firestone, Chaz
    Publicado 2019
    “…However, unlike humans, CNNs are “fooled” by adversarial examples—nonsense patterns that machines recognize as familiar objects, or seemingly irrelevant image perturbations that nevertheless alter the machine’s classification. …”
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    Humans can decipher adversarial images
  9. 2109
    “…Earlier works have shown that pioneer translation peptides (PTPs) for the MHC class I pathway are as efficiently produced from introns as from exons, or from mRNAs targeted for the nonsense-mediated decay pathway. The production of PTPs is a target for viral immune evasion but the underlying molecular mechanisms that govern this non-canonical translation are unknown. …”
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    Nuclear processing of nascent transcripts determines synthesis of full-length proteins and antigenic peptides
  10. 2110
    por Tsurumaki, Keiichi, Sasanuma, Tsuneo
    Publicado 2019
    “…Sequencing and linkage analyses revealed that ‘Color Piman Yellow’ possessed a novel mutated pAMT allele, pamt(10), that has a nonsense substitution at the 11th exon responsible for non-pungency. …”
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    Discovery of novel unfunctional pAMT allele pamt(10) causing loss of pungency in sweet bell pepper (Capsicum annuum L.)
  11. 2111
    “…The genetic investigation revealed a novel homozygous nonsense mutation, p. E697X,37 and a novel homozygous missense mutation, p. …”
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    Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family
  12. 2112
    “…Seven VWD2 mutations and 36 candidate VWD1 mutations (5 deletions, 4 nonsense, 21 missense, 1 splice, and 5 synonymous mutations) were identified. …”
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    Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
  13. 2113
    “…This suggests that AS coupled with nonsense-mediated decay (NMD) might play an important role in affecting mRNA levels post-transcriptionally. …”
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    Evolution of Alternative Splicing in Eudicots
  14. 2114
    “…Sanger sequencing revealed a novel homozygous frameshift deletion mutation (c.746delT; p.Val249Glyfs(*)10) in CCN6 which may lead to NMD (Nonsense mediated decay). This mutation expands the spectrum of pathogenic variants in CCN6 causing PPRD.…”
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    A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
  15. 2115
    “…RESULTS: In Homo sapiens, 1194 SNPs were found, of which 94 were missense and 2 were nonsense SNPs. Three SNPs were found to be deleterious. …”
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    Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene
  16. 2116
    “…In this study, we show that ABCB5 was mutated in 13.75% of the 640 melanoma samples analyzed. Besides nonsense mutations, two mutation hotspots were found in the ABCB5 protein, in the drug-binding pocket and the nucleotide-binding domains. …”
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    Exome Sequencing of ABCB5 Identifies Recurrent Melanoma Mutations that Result in Increased Proliferative and Invasive Capacities
  17. 2117
    “…Out of them, three variants are novel, unreported including a missense (c.1981G > T, p.G661C), a nonsense (c.2896G > T, p.E966X), and a splicing change of c.622-3C > G. …”
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    Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature
  18. 2118
    “…Results of sequencing showed nonsense exonic mutations in exon 3 at g.25710G>A and g.25722G>A positions. …”
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    Status of serine tyrosine kinase at germline and expressional levels in asthma patients
  19. 2119
    “…RESULTS: After variants filtering and annotation, we identified a de novo heterozygous 11bp frameshift mutation NM_138576.4: c.2190_2200delGGACGCACGAC (p.Thr730Thrfs*151) in exon 4 of BCL11B, which is expected to escape nonsense‐mediated mRNA decay and probably result in a truncated protein with lack of the C‐terminal DNA‐binding zinc‐finger domains. …”
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    A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
  20. 2120
    “…Introduction: ACT DMD was a 48‐week trial of ataluren for nonsense mutation Duchenne muscular dystrophy (nmDMD). …”
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    Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial
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