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  1. 4261
    “…Additionally, we found a novel variant in BRCA2 (p.Glu2650Gln), two previously reported variants in BRCA1 (p.Thr293Ser) and BRCA2 (p.Ile2296Leu) and a recurrent nonsense variant in BRCA2 (p.Lys3326Ter). These variants were classified as variants of uncertain significance (VUS). …”
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    Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
  2. 4262
    “…The rpl22 gene in the IRb region has a nonsense mutation resulting in 9 stop codons. This was confirmed by PCR amplification and sequencing using primers that flank the IR/LSC boundaries. …”
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    The complete chloroplast genome sequence of Citrus sinensis (L.) Osbeck var 'Ridge Pineapple': organization and phylogenetic relationships to other angiosperms
  3. 4263
    “…RESULTS: Sequencing of the trpED genes from E. coli W3110 trpD9923 revealed a nonsense mutation in the trpD gene, causing the loss of anthranilate phosphoribosyl transferase activity, but maintaining anthranilate synthase activity, thus causing anthranilate accumulation. …”
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    Metabolic engineering for improving anthranilate synthesis from glucose in Escherichia coli
  4. 4264
    “…Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. …”
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    Rothmund-Thomson syndrome
  5. 4265
    “…Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. …”
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    Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics
  6. 4266
    “…Of the 14 different intragenic lesions, 11 were novel; these included one nonsense and 7 missense mutations, a 657-bp deletion, a microdeletion and a microduplication. …”
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    Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
  7. 4267
    “…We detected a total of 13 mutations: 9 missense mutations (G61E, A119S, R390H, P437L, D441G, A443G, G466S, G466D, and R469W), 2 deletions (g.4238_4247del and g.7901_7913del), and 2 nonsense mutations (R355X and R444X). Two mutations, G466S and D441G, were novel. …”
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    Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: Genotype-phenotype correlation
  8. 4268
    “…We also identified a novel CC insertion (g.10974_10975insCC) in exon 8 of GRN, which introduced a premature stop codon, resulting in nonsense-mediated mRNA decay. This GRN mutation was associated with lower GRN plasma levels, as previously reported for other GRN pathogenic mutations. …”
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    Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
  9. 4269
    “…Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. …”
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    Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
  10. 4270
    “…Exome sequencing identified a recessive maternally inherited nonsense mutation in the non-deleted allele of NDE1, revealing the complexity of ACC genetics. …”
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    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
  11. 4271
    por Borad, Mitesh J., Champion, Mia D., Egan, Jan B., Liang, Winnie S., Fonseca, Rafael, Bryce, Alan H., McCullough, Ann E., Barrett, Michael T., Hunt, Katherine, Patel, Maitray D., Young, Scott W., Collins, Joseph M., Silva, Alvin C., Condjella, Rachel M., Block, Matthew, McWilliams, Robert R., Lazaridis, Konstantinos N., Klee, Eric W., Bible, Keith C., Harris, Pamela, Oliver, Gavin R., Bhavsar, Jaysheel D., Nair, Asha A., Middha, Sumit, Asmann, Yan, Kocher, Jean-Pierre, Schahl, Kimberly, Kipp, Benjamin R., Barr Fritcher, Emily G., Baker, Angela, Aldrich, Jessica, Kurdoglu, Ahmet, Izatt, Tyler, Christoforides, Alexis, Cherni, Irene, Nasser, Sara, Reiman, Rebecca, Phillips, Lori, McDonald, Jackie, Adkins, Jonathan, Mastrian, Stephen D., Placek, Pamela, Watanabe, Aprill T., LoBello, Janine, Han, Haiyong, Von Hoff, Daniel, Craig, David W., Stewart, A. Keith, Carpten, John D.
    Publicado 2014
    “…In an independent non-FGFR2 translocation patient, exome and transcriptome analysis revealed an allele specific somatic nonsense mutation (E384X) in ERRFI1, a direct negative regulator of EGFR activation. …”
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    Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma
  12. 4272
    “…RESULTS: We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. …”
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    Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
  13. 4273
    “…Eventually of the 156 reliable marker SNPs, which can induce non-synonymous-, frameshift-, nonsense-, and no-start mutations in amino acid sequences in proteins, 139 genes were chosen for further analysis. …”
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    Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model
  14. 4274
    “…METHODS AND RESULTS: With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A > G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G > A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A > T, p.Lys144Ter) in another patient. …”
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    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
  15. 4275
    “…It provides comprehensive information essential for further patient management, especially for promotion of international cooperation in developing experimental therapies such as exon skipping and read-through of nonsense mutations targeting a subgroup of DMD patient population.…”
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    A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China
  16. 4276
    “…Furthermore, we review all reported germline PIGA mutations (1 nonsense, 1 frameshift, 1 in-frame deletion, five missense) in 8 unrelated families. …”
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    The genotypic and phenotypic spectrum of PIGA deficiency
  17. 4277
    “…RESULTS: CASK alterations include one nonsense mutation, one 5-bp deletion, one mutation of the start codon, and five partial gene deletions and duplications; seven were de novo, including three somatic mosaicisms, and one was familial. …”
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    Phenotypic and molecular insights into CASK-related disorders in males
  18. 4278
    “…Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein. …”
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    Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
  19. 4279
    “…TP53 null tumors constitute a specific subgroup characterised by nonsense, frameshift or splice-site mutations associated to complete absence of p53 expression. …”
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    Intra-tumor heterogeneity in TP53 null High Grade Serous Ovarian Carcinoma progression
  20. 4280
    “…A higher incidence of heart anomalies (8/14 vs 2/12; P = 0.0344, Chi-square), nonsense mutations (19 in 28 alleles), and hot-spot mutations (W936Ter, 2779-2G>A, and Y1169Ter) were found in the Asian compared with the non-Asian patients. …”
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    Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
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