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  1. 2681
    “…We have generated a knockin mouse model for translational research that carries the most common nonsense mutation in Rett syndrome, R168X. In this article we describe the phenotype of this mouse model. …”
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    Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome
  2. 2682
    “…Eight different mutations were detected in the CNGB3 gene, including five novel mutations: two splice site mutations (c.1579–1G>A and c.494–2A>T), one nonsense substitution (c.1194T>G), and two frame-shift mutations (c.393_394delGCinsTCCTGGTGA and c.1366delC). …”
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    Five novel CNGB3 gene mutations in Polish patients with achromatopsia
  3. 2683
    “…Here, we show that se13, a mutation detected in the extremely early flowering mutant X61 is a nonsense mutant gene of OsHY2, which encodes phytochromobilin (PΦB) synthase, as evidenced by spectrometric and photomorphogenic analyses. …”
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    The effects of phytochrome-mediated light signals on the developmental acquisition of photoperiod sensitivity in rice
  4. 2684
    “…Gene analysis of lamin A/C gene showed a novel nonsense mutation p.Q353X (c.1057C > T). Further investigations revealed that he and his family members had cardiac diseases including atrioventricular block. …”
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    A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case
  5. 2685
    “…We investigated the molecular mechanisms for in-frame skipping of DMD exon 39 caused by the nonsense c.5480T>A mutation in a patient with Becker muscular dystrophy. …”
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    FUBP1: a new protagonist in splicing regulation of the DMD gene
  6. 2686
    “…Here, we generated human neuroblastoma cell lines with nonsense mutations in the GBA1 gene using zinc-finger nucleases. …”
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    Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation
  7. 2687
    por Wang, Xin, Zhao, Yuming, Yang, Yuan, Qin, Man
    Publicado 2015
    “…M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. …”
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    Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
  8. 2688
    “…Thirty-six MPS VI subjects included in the study harbored 45 (62.5%) missense, 13 (18%) nonsense, 9 (12.5%) frameshift (2 insertions and 7 deletions), and 5 (7%) splicing ARSB mutations. …”
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    Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial
  9. 2689
    “…Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. …”
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    Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients
  10. 2690
    “…The gene set enrichment analysis showed the suppression of “nonsense-mediated mRNA decay (NMD)” as the most significantly affected gene set. …”
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    Rigosertib induces cell death of a myelodysplastic syndrome-derived cell line by DNA damage-induced G2/M arrest
  11. 2691
    “…In addition, a missense mutation in combination with a recurrent nonsense mutation in ENPP1 was discovered in a pediatric PXE case. …”
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    Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations
  12. 2692
    “…People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. …”
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    Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family
  13. 2693
    “…In total, we found three nonsense mutations leading to a truncated protein of RECQL (p.L128X, p.W172X, and p.Q266X), one mutation affecting mRNA splicing (c.395-2A>G), and five missense mutations disrupting the helicase activity of RECQL (p.A195S, p.R215Q, p.R455C, p.M458K, and p.T562I), as evaluated through an in vitro helicase assay. …”
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    Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer
  14. 2694
    “…Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. …”
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    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
  15. 2695
    “…The missense variation p.Gly792Arg was found in homozygosity in two adult patients of the same family, and in compound heterozygosity in an adult proband that also carries a novel intronic change (c.1606-8A>G). Two new nonsense TFR2 mutations (Gln306* and Gln672*) were detected in a pediatric case. …”
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    Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
  16. 2696
    “…In a patient with a Jeune-like phenotype we performed exome sequencing and identified compound heterozygous missense and nonsense mutations in DYNC2LI1 segregating with the phenotype. …”
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    DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
  17. 2697
    “…Here we report that a novel zebrafish mutant(cas003) with nonsense mutation in topbp1 gene encoding topoisomerase II β binding protein 1 (TopBP1) exhibits severe definitive hematopoiesis failure. …”
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    TopBP1 Governs Hematopoietic Stem/Progenitor Cells Survival in Zebrafish Definitive Hematopoiesis
  18. 2698
    “…RESULTS: The patient had a homozygous p.Arg73Ter nonsense mutation. Her mother was heterozygous for the mutation, but her father was negative. …”
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    Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array
  19. 2699
    “…After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). …”
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    GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
  20. 2700
    “…In Experiment 1, participants performed speeded discrimination for pairs of consonant-vowel spoken nonsense syllables that were predicted to be same, near, or far in their perceptual distances, and that were presented as natural or synthesized video. …”
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    Visual speech discrimination and identification of natural and synthetic consonant stimuli
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