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  1. 2921
    por Hou, Ling, Du, Yue
    Publicado 2020
    “…Gene analysis revealed two novel mutations in ADAMTS13: a missense mutation 332G > A (p:Gly111Glu) in exon4 and a nonsense mutation 3121C > T (p:Gln1041stop) in exon 24. …”
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    Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report
  2. 2922
    “…Ataluren promotes ribosomal readthrough of premature termination codons in mRNA which result from nonsense mutations. In vitro studies were performed to characterize the metabolism and enzyme kinetics of ataluren and its interaction potential with CYP enzymes. …”
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    In vitro metabolism, reaction phenotyping, enzyme kinetics, CYP inhibition and induction potential of ataluren
  3. 2923
    “…A missense mutation (c.1267C>T) (p.His423Tyr) has been identified in three unrelated patients. A nonsense mutation (c.1327C>T) (p.Arg443Term) and one missense mutation (c.1493G>A) (p.Arg498His) mapped in one patient each. …”
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    Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients
  4. 2924
    “…Candidate target sites of the SpCas9-derived BE and its variants in HBV genomes were screened for generating nonsense mutations of viral genes with individual guide RNAs (gRNAs). …”
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    Permanent Inactivation of HBV Genomes by CRISPR/Cas9-Mediated Non-cleavage Base Editing
  5. 2925
    “…Most mutations (65%) were missense; the remaining null mutations included nonsense, splicing effect, frameshift indel, and large genomic DNA deletions. …”
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    Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis
  6. 2926
    “…Stimuli comprised of 16 vowel-consonants-vowel nonsense syllables spoken by eight native speakers of Malayalam (native consonants) and eight native speakers of American English (non-native consonants). …”
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    Effect of Speech-Shaped Noise on the Recognition of Malayalam and English Consonants by Malayalam Listeners
  7. 2927
    “…RESULT: In this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). …”
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    Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene
  8. 2928
    “…Subsequently, bidirectional Sanger sequencing identified two novel mutations—a single base deletion resulting in a frameshift (c.3196delC; p.His1066IlefsTer10) mutation and a single base substitution resulting in a nonsense (c.4270C>T; p.Arg1424Ter) mutation—and a known missense (c.4127T>C, p.Leu1376Pro) mutation in FYCO1. …”
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    Mutations in FYCO1 identified in families with congenital cataracts
  9. 2929
    “…Notably, we identify a homozygous nonsense mutation in the DALRD3 gene that impairs m3C formation in human patients exhibiting developmental delay and early-onset epileptic encephalopathy. …”
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    DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification
  10. 2930
    “…The other four individuals harbored single nucleotide variants (one nonsense, one frameshift and two splicing variants). …”
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    Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
  11. 2931
    “…This was not due to differences in reporter abundance or nonsense-mediated mRNA decay (NMD) surveillance between these tissues. …”
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    Premature termination codon readthrough in Drosophila varies in a developmental and tissue-specific manner
  12. 2932
    “…We identified a novel nonsense mutation (p.Gln368Ter) in the LINS1 gene which leads to loss of 389 amino acids in the C-terminus of the encoded protein. …”
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    A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
  13. 2933
    “…Zebrafish carrying a nonsense rspo3 mutation display altered fat distribution. …”
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    RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro
  14. 2934
    “…Hundreds of disease-causing variants in ATP7B have been reported to public databases; more than half of these are missense changes, and a significant proportion are presumed unequivocal loss-of-function variants (nonsense, frameshift, and canonical splice site). Current molecular genetic testing includes sequencing all coding exons (±10 bp) as well as deletion/duplication testing, with reported sensitivity of >98%. …”
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    Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant
  15. 2935
    “…We show that homozygous mutations in two zebrafish exon junction complex (EJC) core genes rbm8a and magoh leads to muscle disorganization, neural cell death, and motor neuron outgrowth defects, as well as dysregulation of mRNAs subjected to nonsense-mediated mRNA decay (NMD) due to translation termination ≥ 50 nts upstream of the last exon-exon junction. …”
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    Zebrafish rbm8a and magoh mutants reveal EJC developmental functions and new 3′UTR intron-containing NMD targets
  16. 2936
    “…The condition is driven by nonsense and missense mutations in the dystrophin gene, leading to instability of the sarcolemma and skeletal muscle necrosis and atrophy. …”
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    Transcriptome changes during the initiation and progression of Duchenne muscular dystrophy in Caenorhabditis elegans
  17. 2937
    “…Here, we show that RNA decay mechanisms involving upstream frameshift 1 (UPF1), including nonsense-mediated decay (NMD), are inhibited in c9ALS/FTD brains and in cultured cells expressing either of two arginine-rich dipeptide repeats (R-DPRs), poly(GR) and poly(PR). …”
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    C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression
  18. 2938
    “…Genetic analysis revealed a homozygous 1 base pair insertion in exon 5 of PARK2 gene (c.601_602insA), resulting in a nonsense mutation causing a stop codon instead of a cysteine codon (p. …”
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    A Novel Mutation of PARK-2 Gene in a Patient with Early-onset Parkinson’s Disease
  19. 2939
    “…The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splice site variants), with further allelic heterogeneity arising from different pathogenic variants in the same gene. …”
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    Genetic spectrum of retinal dystrophies in Tunisia
  20. 2940
    “…The evolutionarily conserved nonsense-mediated mRNA decay (NMD) pathway degrades aberrant mRNAs, but also functions in the regulation of transcript abundance in response to changed physiological states. …”
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    Pervasive changes of mRNA splicing in upf1-deficient zebrafish identify rpl10a as a regulator of T cell development
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