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  1. 1041
    “…To date, hereditary and sporadic mutations are known (missense, nonsense, deletions and splice site mutations). CASE PRESENTATION: Herein, we describe a male patient carrying a novel de novo mosaic nonsense mutation c.2176G>T (p.Glu726Ter) located in exon 22 of PHEX gene. …”
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    A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
  2. 1042
    “…We report the cloning of mcd2-1, and show that the mutation lies in a tRNA(Ser)(CGA), which has been modified to translate the nonsense codon in mcd1-2. We discuss how the existence of a large tRNA(Ser) gene family may permit this suppression without pleiotropic consequences.…”
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    A spontaneous tRNA suppressor of a mutation in the Chlamydomonas reinhardtii nuclear MCD1 gene required for stability of the chloroplast petD mRNA
  3. 1043
    “…Genetic evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C > T (p.Q1208X) and c.11002G > T (p.E3668X). …”
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    Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
  4. 1044
    “…A prediction of nonsense-mediated decay allowed to infer which truncated proteins would actually be translated as defective proteins. …”
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    Prediction of Protein-Destabilizing Polymorphisms by Manual Curation with Protein Structure
  5. 1045
    “…We further found a significant inverse correlation between the UPR and nonsense-mediated mRNA decay (NMD), suggesting a feedback loop between these homeostatic pathways. …”
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    The unfolded protein response affects readthrough of premature termination codons
  6. 1046
    “…CCR4 mutations were detected in 14/53 ATLL samples (26%) and consisted exclusively of nonsense or frameshift mutations that truncated the coding region at C329, Q330, or Y331 in the carboxy terminus. …”
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    Gain-of-function CCR4 mutations in adult T cell leukemia/lymphoma
  7. 1047
    “…RESULTS: Using WES we identified a homozygous nonsense mutation (1072C>T; p.Arg358*) in the PLVAP (plasmalemma vesicle-associated protein) gene in an infant from consanguineous parents who died at 5 months of age of severe PLE. …”
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    Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
  8. 1048
    “…RESULTS: We detected 2 different homozygous C12orf65 nonsense mutations in 4 patients with a homogeneous clinical presentation matching the historical description of Behr’s syndrome. …”
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    Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
  9. 1049
    “…CONCLUSION: p.Gln1507-Lys1508-Pro1509del mutation, p.Arg222Ter nonsense mutation, and p.Met1498Arg in LQTS, BrS, and SSS, respectively, are reported for the first time in the Iranian population. …”
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    Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias
  10. 1050
    “…Remarkably, we identified nonsense variants presumably resistant to nonsense‐mediated decay, even when a premature termination codon would be introduced in the second amino acid (p.…”
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    Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients
  11. 1051
    “…The yeast [PSI(+)] prion, formed by the Sup35 (eRF3) protein, has multiple structural variants differing in the strength of nonsense suppressor phenotype. Structure of [PSI(+)] and its variation are characterized poorly. …”
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    Yeast Sup35 Prion Structure: Two Types, Four Parts, Many Variants
  12. 1052
    “…A germline NOTCH1 missense mutation was identified in the peripheral blood sample, the primary tumor and the relapse tumor; in addition, we identified a tumor protein p53 (TP53) heterozygous nonsense mutation in the primary tumor and a TP53 homozygous nonsense mutation and an IDH1 heterozygous missense mutation in the relapse tumor. …”
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    From astrocytoma to glioblastoma: a clonal evolution study
  13. 1053
    “…Following inhibition of nonsense‐mediated decay, the out‐of‐frame insertion was detected in 50% of all RNA‐Seq reads. …”
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    Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five
  14. 1054
    “…Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). …”
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    New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
  15. 1055
    “…Here, we present a functional and structural analysis of 4 novel variants located in the FGB gene coding for fibrinogen Bβ chain-heterozygous missense BβY416C and BβA68S, homozygous nonsense BβY345*, and heterozygous nonsense BβW403* mutations. …”
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    Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder
  16. 1056
    “…These analyses revealed two novel homozygous mutations in the KLK4 gene: a nonsense mutation in exon 3 (NM_004917.4:c.170C>A, p.…”
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    Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta
  17. 1057
    por Shen, Guomin, Gao, Meng, Cao, Qing, Li, Weikai
    Publicado 2022
    “…Point mutations in the coding sequence can be missense, nonsense, or silent mutations. Nonsense mutations generate truncated FIX that usually loses function, causing severe hemophilia B. …”
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    The Molecular Basis of FIX Deficiency in Hemophilia B
  18. 1058
    “…High-grade serous carcinoma (HGSCa) of the ovary is featured by TP53 gene mutation. Missense or nonsense mutation types accompany most cases of HGSCa that correlate well with immunohistochemical (IHC) staining results—an all (missense) or none (nonsense) pattern. …”
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    p53 Immunohistochemistry and Mutation Types Mismatching in High-Grade Serous Ovarian Cancer
  19. 1059
    “…Next, we found that novel pathogenic mutations in ACE including frame-shift and nonsense mutations were in association with FLOAD regardless of APOE ε4 status. …”
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    Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study
  20. 1060
    “…Sanger sequencing confirmed the cosegregation of the MSH6 nonsense variant in family members.…”
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    An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
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