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  1. 2121
    “…RESULTS: None of the patients tested showed microdeletion of ELN, LIMK1, and D7S613. A novel nonsense mutation of ELN (c.160G>T (p.(Gly54*)), RNA not analyzed) was found in exon 3 in three members; two of them died suddenly due to rapid progression of SVAS with possible arrhythmia in early infancy. …”
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    Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis
  2. 2122
    “…Transcript degradation by nonsense mediated decay (NMD) in blood cells could only be prevented by cycloheximide treatment. …”
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    Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
  3. 2123
    “…Price & Ansari (Price, Ansari 2011 Neuroimage 57, 1205–1211) investigated whether any regions activated more in response to passively viewing digits in contrast with letters and visually similar nonsense symbols and identified a region in the left angular gyrus. …”
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    Investigating the visual number form area: a replication study
  4. 2124
    “…The mutation is predicted to cause nonsense mutation (p.Y191*) in the ASCT1 protein. Here, we report the fifth disease causing mutation in SLC1A4 gene and review all previously reported cases.…”
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    A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder
  5. 2125
    “…RESULTS: We identified two new mutations in DYSF, the first one is a nonsense mutation c.2419C > T (p.Gln807*), which eliminates downstream part of the protein. …”
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    Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect
  6. 2126
    “…Peripheral blood RNA assay suggested that the mutant transcript might escape nonsense-mediated messenger RNA (mRNA) decay (NMD) and encode a C-terminal truncated protein. …”
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    Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
  7. 2127
    “…The 58 mutations included frameshift indels (27.6%), splice site changes (25.9%), nonsense mutations (20.7%), CNVs (19.0%), missense mutations (3.4%), run-on mutations (1.7%), and a synonymous mutation (1.7%). …”
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    Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
  8. 2128
    “…It was generally assumed that mis-splicing, leading to the retention of introns, would have no physiological consequence other than reducing gene expression by nonsense-mediated decay. Relatively recent landmark discoveries have highlighted the pivotal role that IR serves in normal and disease-related human biology. …”
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    The changing paradigm of intron retention: regulation, ramifications and recipes
  9. 2129
    “…This background-effect is largely due to the allelic variation at the SSD1 locus, which encodes an mRNA-binding protein involved in post-transcriptional regulation of gene expression. A nonsense ssd1 allele is found in several wild-type laboratory strains and the presence of this allele aggravates the stress-induced phenotypes of Elongator mutants. …”
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    SSD1 modifies phenotypes of Elongator mutants
  10. 2130
    “…RESULTS: A compound heterozygosity of a nonsense (c.932C>G,p.Ser311Ter) and an exon 5 deletion in ASCC1 segregating with phenotypes was detected, both variants are novel and pathogenic. …”
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    Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
  11. 2131
    “…While we also discuss the delivery of therapeutics, in particular via viral vectors and nanoparticles, our main focus is on therapeutic techniques that reconstitute functional neurofibromin, most notably cDNA replacement, CRISPR-based DNA repair, RNA repair, antisense oligonucleotide therapeutics including exon skipping, and nonsense suppression.…”
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    Mutation-Directed Therapeutics for Neurofibromatosis Type I
  12. 2132
    “…(Arg366Thrfs*2) frameshift substitution in LARP7 and the likely pathogenic c.5743C>T p.(Arg1915*) nonsense variant in OTOG. Recessive variants in LARP7 cause Alazami syndrome, while variants in OTOG cause an extremely rare autosomal recessive form of neurosensorial deafness. …”
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    Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing
  13. 2133
    por Hallen, André, Cooper, Arthur J. L.
    Publicado 2020
    “…Thus, this splice site variant is predicted to trigger RNA nonsense-mediated decay (NMD) and/or result in a C-terminal truncated p150(Glued) protein (ct-p150(Glued)), thereby negatively impacting retrograde axonal transport and neuronal autophagy. …”
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    A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology
  14. 2134
    “…The intermediate state characterized by two-wave step up-regulation of pluripotent genes is different from the one observed during the 2C-like entry transition. Nonsense-mediated Dux mRNA decay plays an important role in the 2C-like state exit. …”
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    A transcriptional roadmap for 2C-like–to–pluripotent state transition
  15. 2135
    por Kabani, Mehdi
    Publicado 2020
    “…The prion form of the yeast Saccharomyces cerevisiae Sup35p translation terminator causes the [PSI(+)] nonsense suppression phenotype. This fascinating biological model helped us shape our understanding of the mechanisms of formation, propagation and elimination of infectious protein aggregates. …”
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    Hiding in plain sight: vesicle-mediated export and transmission of prion-like proteins
  16. 2136
    “…LESSONS: BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.…”
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    A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report
  17. 2137
    “…One mutation (c.250C>T) is predicted to cause a nonsense mutation (p.R84X) that only affects isoform 2 variants, which have an N-terminal transmembrane domain; the other (c.8283+1G>A) mutates a consensus splice donor site and results in a 22 amino acid in-frame deletion in the spectrin repeat domain of all BPAG1a and BPAG1b isoforms. …”
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    Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
  18. 2138
    “…Nonsense-mediated mRNA decay (NMD) is a translation-dependent RNA degradation pathway that is important for the elimination of faulty, and the regulation of normal, mRNAs. …”
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    Human NMD ensues independently of stable ribosome stalling
  19. 2139
    “…RESULTS: Linkage analysis of ADPKD family was consistent to the PKD2 locus by a nonsense mutation, yielding a truncated polycystin‐2 by means of next‐generation sequencing. …”
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    Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2
  20. 2140
    “…We detected significant effects in the expected direction (in 60% of variants), demonstrating the ability of the assay to capture regulatory effects of eQTL variants and nonsense-mediated decay triggered by premature stop-gained variants. …”
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    A polyclonal allelic expression assay for detecting regulatory effects of transcript variants
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