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  1. 2721
    “…In 12 genes, 60 LVNC‐associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC‐associated variants. …”
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    The pathogenicity of genetic variants previously associated with left ventricular non‐compaction
  2. 2722
    “…W1282X is a common nonsense mutation among cystic fibrosis patients that results in the production of a truncated Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. …”
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    Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators
  3. 2723
    “…Using standard variant filtering criteria, we excluded all variants as being the likely pathogenic cause, apart from a single novel nonsense mutation, c.188C>A p.(Ser63*) (NM_002478.4), in MYOD1. …”
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    Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
  4. 2724
    “…By whole-exome sequencing, we sequencing identified a nonsense variation c.412C > T (p.Arg138*) in the phosphomevalonate kinase gene (PMVK), which encodes a cytoplasmic enzyme catalyzing the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate in the mevalonate pathway. …”
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    Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis
  5. 2725
    “…We used zebrafish to study Enhancer of zeste homolog 2 (Ezh2), the PcG protein responsible for placing the transcriptional repressive H3K27me3 mark. We identified a nonsense mutant of ezh2 and generated maternal zygotic (MZ) ezh2 mutant embryos. …”
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    Normal formation of a vertebrate body plan and loss of tissue maintenance in the absence of ezh2
  6. 2726
    “…Notably, we identified six novel frameshift or nonsense BRCA1/2 mutations. The heterogeneity of the detected mutations confirms the necessity of simultaneous analysis of BRCA1/2 genes in all patients diagnosed with serous ovarian carcinoma. …”
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    Detection of somatic BRCA1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases
  7. 2727
    “…This mutation (Zdhhc13(luc)) was identified as a nonsense base substitution, which results in a premature stop codon that generates a truncated form of the ZDHHC13 protein, representing a potential loss-of-function allele. …”
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    Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 gene
  8. 2728
    “…Four of these validated variants were nonsense mutations, six were observed in genes directly or indirectly related to neurodegenerative disorders (NDs), such as LPA, LRRK2, and FGF20. …”
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    Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders
  9. 2729
    “…Alternative splicing of pre-mRNAs can regulate expression of protein-coding genes by generating unproductive mRNAs rapidly degraded by nonsense-mediated mRNA decay (NMD). Many of the genes directly regulated by alternative splicing coupled with NMD (AS-NMD) are related to RNA metabolism, but the repertoire of genes regulated by AS-NMD in vivo is to be determined. …”
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    Evolutionarily conserved autoregulation of alternative pre-mRNA splicing by ribosomal protein L10a
  10. 2730
    “…Here we show that TDP-43 inhibits the selection of the most proximal PAS and induces splicing of multiple alternative introns in TARDBP mRNA to decrease the amount of cytoplasmic TARDBP mRNA by nonsense-mediated mRNA decay. When TDP-43 is depleted, the TARDBP mRNA uses the most proximal PAS and is increased in the cytoplasm. …”
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    Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43
  11. 2731
    “…We analyze RNA-Seq data to show that hnRNP C is a potential regulator of SMN6B expression and demonstrate that SMN6B is a substrate of nonsense-mediated decay. We show interaction of SMN6B with Gemin2, a critical SMN-interacting protein. …”
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    A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein
  12. 2732
    “…Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. …”
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    BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
  13. 2733
    “…The Aspa-knockout rats carried nonsense mutations in exon 4; and ASPA proteins were not detectable in their brain extracts. …”
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    Involvement of aspartoacylase in tremor expression in rats
  14. 2734
    por Samanta, Debopam, Willis, Erin
    Publicado 2016
    “…The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation. REPORT: We report a 4- month-old girl who presented with epileptic spasms that remained intractable to several antiepileptic medications. …”
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    Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?
  15. 2735
    “…We were able to detect all types of mutations, including missense, nonsense, splice site, indel, and structural variants. …”
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    Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort
  16. 2736
    “…We conclude that individual cultivars carry hundreds of deleterious SNPs on average, and that nonsense variants make up a minority of deleterious SNPs. …”
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    The Role of Deleterious Substitutions in Crop Genomes
  17. 2737
    “…Sequence analysis revealed a new nonsense mutation at position 208 in the phsA gene of all non-H(2)S-producing isolates. …”
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    Molecular Characterization of Salmonella enterica Serovar Aberdeen Negative for H(2)S Production in China
  18. 2738
    “…The differences of over-all survival and local recurrence-free survival between the 2 groups were nonsense (P = 0.938, P = 0.695, respectively). But the disease-free survival and distant metastasis-free survival of the CIN group were statically significantly better (HR = 0.391, P = 0.009, and HR = 0.315, P = 0.005, respectively). …”
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    Prognostic Value of Chemotherapy-Induced Neutropenia at the First Cycle in Invasive Breast Cancer
  19. 2739
    “…For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. …”
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    Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease
  20. 2740
    “…UPF1 is a key player in nonsense mediated mRNA decay (NMD) but also involved in posttranscriptional gene regulation. …”
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    UPF1 regulates myeloid cell functions and S100A9 expression by the hnRNP E2/miRNA-328 balance
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