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  1. 1801
    “…In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. …”
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    The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
  2. 1802
    “…The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. …”
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    Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy
  3. 1803
    “…Genetic variations were found at a similar density in intergenic and gene regions. Non-synonymous and nonsense nucleotide substitutions were found in 12,493 and 1,214 genes accounting for 81.9% and 8.0% of the entire gene set, respectively, and over 60% of genes in the single animal encode non-identical proteins between maternal and paternal alleles. …”
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    A genomic overview of short genetic variations in a basal chordate, Ciona intestinalis
  4. 1804
    “…The structures show that the overall fold of Ighmbp2 is very similar to that of Upf1, a key helicase involved in nonsense-mediated mRNA decay. Similar to Upf1, domains 1B and 1C of Ighmbp2 undergo large conformational changes in response to RNA binding, rotating 30° and 10°, respectively. …”
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    The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1
  5. 1805
    “…RuvBL1 and RuvBL2, also known as Pontin and Reptin, are AAA+ proteins essential in small nucleolar ribonucloprotein biogenesis, chromatin remodelling, nonsense-mediated messenger RNA decay and telomerase assembly, among other functions. …”
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    Conformational transitions regulate the exposure of a DNA-binding domain in the RuvBL1–RuvBL2 complex
  6. 1806
    “…More than 60% of all splicing changes represented a single splicing pattern reflecting preferential inclusion of gene segments potentially targeting transcripts for nonsense-mediated decay in infants and elderly.…”
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    Widespread splicing changes in human brain development and aging
  7. 1807
    “…Twenty-six percent of the expressed genes exhibited RNA half-life differences between LCLs at a false discovery rate (FDR) < 0.05, which accounted for ~ 37% of the gene expression differences between individuals. Nonsense polymorphisms were associated with reduced RNA half-lives. …”
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    Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines
  8. 1808
    “…The noncanonical alternative splicing, along with common splicing events, targets the spliced transcripts to degradation through nonsense-mediated mRNA decay or leads to translation of truncated proteins. …”
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    The Role of Canonical and Noncanonical Pre-mRNA Splicing in Plant Stress Responses
  9. 1809
    “…We identified 11 missense mutation,2 nonsense and 30 bp deletion encompassing DNMT3A. The most common of them was predicted to affect 882Arg(in 4 patients). …”
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    DNMT3A mutations and clinical features in Chinese patients with acute myeloid leukemia
  10. 1810
    “…We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. …”
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    Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology
  11. 1811
    por Sakaki, Kenjiro, Kaufman, Randal J.
    Publicado 2013
    “…Accumulation of misfolded proteins in the ER activates an adaptive set of signaling pathways, collectively known as the unfolded protein response (UPR), to resolve protein misfolding and restore ER homeostasis. Nonsense-mediated RNA decay (NMD) is an RNA surveillance system that selectively degrades nascent mRNAs containing premature termination codons (PTCs). …”
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    Interaction between quality control systems for ER protein folding and RNA biogenesis
  12. 1812
    “…Introduction: Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. …”
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    THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY
  13. 1813
    “…Introduction: An international clinical trial enrolled 174 ambulatory males ≥5 years old with nonsense mutation Duchenne muscular dystrophy (nmDMD). …”
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    THE 6-MINUTE WALK TEST AND OTHER CLINICAL ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: RELIABILITY, CONCURRENT VALIDITY, AND MINIMAL CLINICALLY IMPORTANT DIFFERENCES FROM A MULTICENTER STUDY
  14. 1814
    “…A new splicing defect and two new frameshift mutations with premature termination of the Opa1 protein were identified in three families. A reported nonsense mutation was identified in one family. SD-OCT of one patient showed MME in the inner nuclear layer (INL) of the retina. …”
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    High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy
  15. 1815
    “…Furthermore, the analysis of nonsense mutants in related model organisms allows a directed approach for making these markers and tools. …”
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    Rapid Creation of Forward-Genetics Tools for C. briggsae Using TALENs: Lessons for Nonmodel Organisms
  16. 1816
    “…METHODS AND RESULTS: By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p.Arg54*, in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, a phenotype highly similar to the abormalities reported in lde/lde rats with a spontaneous functional null mutation of Wwox. …”
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    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
  17. 1817
    “…The noise in the splicing process, represented by those misspliced products, can be increased by cold shock treatment or by inhibiting the nonsense mediated decay. Here, we investigated whether the splicing noise frequency increases with age in vivo in peripheral bloods cells or in vitro in cultured and aged fibroblasts from healthy donors. …”
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    Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts
  18. 1818
    “…The aim of this work was to examine and discuss the effect of nonsense mutation at position 289 on the activity of catechol 2,3-dioxygenase from Planococcus strain. …”
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    Activity of a Carboxyl-Terminal Truncated Form of Catechol 2,3-Dioxygenase from Planococcus sp. S5
  19. 1819
    “…BACKGROUND: Nonsense-mediated mRNA decay (NMD) is a eukaryotic mRNA surveillance mechanism that detects and degrades mRNAs with premature termination codons (PTC(+ )mRNAs). …”
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    An unappreciated role for RNA surveillance
  20. 1820
    “…Small mutations, including nonsense mutations, small deletions/insertions and splice site mutations, were identified in 32 patients (28 DMD and four BMD). …”
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    Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
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