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  1. 1821
    “…Using RNA-Seq analysis of nonsense-mediated mRNA decay (NMD) mutant strains, we show that many S. cerevisiae intron-containing genes exhibit usage of alternative splice sites, but many transcripts generated by splicing at these sites are non-functional because they introduce premature termination codons, leading to degradation by NMD. …”
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    Widespread Use of Non-productive Alternative Splice Sites in Saccharomyces cerevisiae
  2. 1822
    “…Due to its design, this single reporter exhibits a distinctive signature for many defects in gene expression including transcription, histone modification, pre-mRNA splicing, mRNA export, nonsense-mediated decay, and mRNA degradation. Analysis of the reporter in 4967 nonessential yeast genes revealed striking phenotypic overlaps between chromatin remodeling, histone modification, and pre-mRNA splicing. …”
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    Rapid identification of mRNA processing defects with a novel single-cell yeast reporter
  3. 1823
    “…Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. …”
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    A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
  4. 1824
    “…Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. …”
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    Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness
  5. 1825
    por Zeng, Ruixia, Zhang, YiBo, Du, Peng
    Publicado 2014
    “…The results showed that the SNP at A420C was significantly associated with canine body weight trait when it changed amino acid 101 of the MC4R protein from asparagine to threonine,while canine body weight variations were significant in female dogs when MC4R nonsense mutation at C895T. It suggested that the two SNPs might affect the MC4R gene’s function which was relative to body weight in Beagle dogs. …”
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    The SNPs of Melanocortin 4 Receptor (MC4R) Associated with Body Weight in Beagle Dogs
  6. 1826
    “…RESULTS: Sequencing analysis identified a nonsense mutation in exon 1 of ARHGAP29 that caused substitution of lysine to stop codon at codon position 32 in a subject with nonsyndromic cleft lip with cleft palate. …”
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    Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate
  7. 1827
    por Lemos, Manuel C, Thakker, Rajesh V
    Publicado 2015
    “…These 343 (176 different) mutations are scattered throughout the 13 exons that encode Gs-alpha and consist of 44.9% frameshift, 28.0% missense, 14.0% nonsense, and 9.0% splice-site mutations, 3.2% in-frame deletions or insertions, and 0.9% whole or partial gene deletions. …”
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    GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
  8. 1828
    “…This study revealed that in the atoxigenic strain there is a high accumulation of nonsense and missense mutations in several genes. Importantly, a two fold increase in gene mutation ratio was observed in PKS and NRPS encoding genes which are suggested to be involved in OTA biosynthesis.…”
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    Rapid genome resequencing of an atoxigenic strain of Aspergillus carbonarius
  9. 1829
    “…Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C>A).…”
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    Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome – case report
  10. 1830
    “…Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.…”
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    Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1
  11. 1831
    “…Whole-exome sequencing of two brothers with drug-resistant, early-onset, focal epilepsy secondary to extensive type IIA focal cortical dysplasia identified a paternally inherited, nonsense variant of DEPDC5 (c.C1663T, p.Arg555*). This variant has previously been reported to cause familial focal epilepsy with variable foci in patients with normal brain imaging. …”
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    Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
  12. 1832
    “…RESULTS: We found an enrichment of private nonsense mutations amongst schizophrenia patients. …”
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    Mutation Burden of Rare Variants in Schizophrenia Candidate Genes
  13. 1833
    “…In this study, we characterized a Dicer1 mutant fish line, which carries a nonsense mutation (W1457Ter) induced by N-ethyl-N-nitrosourea mutagenesis. …”
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    Histological Characterization of the Dicer1 Mutant Zebrafish Retina
  14. 1834
    por Parisutham, Vinuselvi, Lee, Sung Kuk
    Publicado 2015
    “…In this study, we characterized two mutations observed in the efficient cellobiose metabolizing strain: duplication of RBS of ascB gene, (β-glucosidase of asc operon) and nonsense mutation in yebK, (an uncharacterized transcription factor). …”
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    Novel Functions and Regulation of Cryptic Cellobiose Operons in Escherichia coli
  15. 1835
    “…Speech recognition was assessed by three different lists: one with monosyllabic and dissyllabic words, another with nonsense syllables, and another one with sentences. …”
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    Telephone Usage and Cochlear Implant: Auditory Training Benefits
  16. 1836
    por He, Feng, Jacobson, Allan
    Publicado 2015
    “…Decapping commits an mRNA to complete degradation and promotes general 5′ to 3′ decay, nonsense-mediated decay (NMD), and transcript-specific degradation. …”
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    Control of mRNA decapping by positive and negative regulatory elements in the Dcp2 C-terminal domain
  17. 1837
    “…Zebrafish heterozygous for a nonsense mutation in ache (ache(sb55/+)) showed lower levels of impulsivity in a 5-choice serial reaction time task (5-CSRTT) than wild type and ache(+∕+). …”
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    Developmental role of acetylcholinesterase in impulse control in zebrafish
  18. 1838
    “…We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. …”
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    An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients
  19. 1839
    “…These breaks are then repaired by non-homologous end joining (NHEJ), producing insertion and deletion (indel) mutations that can result in deleterious missense or nonsense mutations. This manuscript provides detailed methods for the design, production, injection, and validation of single lenti/retro virus particles that can stably transduce neurons to express a fluorescent reporter, Cas9, and sgRNAs to knockout genes in a model organism.…”
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    Designing, Packaging, and Delivery of High Titer CRISPR Retro and Lentiviruses via Stereotaxic Injection
  20. 1840
    “…This analysis was conducted by examining each patient’s genomic DNA by Sanger sequencing. Five nonsense, 4 splicing and 8 deletion mutations in the COL2A1 gene were identified, accounting for 21 of the 23 families. …”
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    Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome
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