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  1. 3961
    “…Because of the lack of clinical manifestations, the diagnosis of MMPH and TSC was confirmed by lung biopsy histopathology and gene sequencing of nonsense mutations in the TSC1 gene. Considering the relevant literature review and that the prognosis of most patients with MMPH is generally stable, no special treatment was given. …”
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    Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review
  2. 3962
    “…The mutant transcript created a premature stop codon at the 378 amino acid position that could have been caused nonsense-mediated mRNA decay (NMD). CONCLUSION: We verified the pathogenic effect of the KMT2E c.1248+1G>T splicing variant, which disturbed normal mRNA splicing and caused mRNA decay. …”
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    Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient
  3. 3963
    “…In this work, we have collected Event-Related Potentials (ERPs) while 5-year-old children and young adults (university students) were exposed to a speech stream made of the repetition of eight three-syllable nonsense words presenting different levels of predictability (high vs. low) to mimic closely what occurs in natural languages and to get new insights into the changes that the mechanisms underlying auditory statistical learning (aSL) might undergo through the development. …”
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    Learning Words While Listening to Syllables: Electrophysiological Correlates of Statistical Learning in Children and Adults
  4. 3964
    “…Genetic testing was performed in three patients, and showed mutations causing BHC in three of the patients, as well as identifying a novel nonsense mutation of the TITF1/NKX2-1 gene in one of the patients. …”
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    Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
  5. 3965
    “…Interestingly, a similar functional response to Hm1a was observed in a second DS mouse model, harboring the nonsense Scn1a(R613X) mutation. Furthermore, we show homeostatic synaptic alterations in both CA1 pyramidal neurons and SO interneurons, consistent with reduced excitation and inhibition onto CA1 pyramidal neurons and increased release probability in the CA1-SO synapse. …”
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    Functional Investigation of a Neuronal Microcircuit in the CA1 Area of the Hippocampus Reveals Synaptic Dysfunction in Dravet Syndrome Mice
  6. 3966
    “…We positioned 2828 dystrophin missense and nonsense pathogenic variations on their respective codon, highlighting that its frequency and occurrence is not dependent on the CU values. …”
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    Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy
  7. 3967
    “…All ES and IR events for the TUBB3 gene were predicted to induce nonsense-mediated mRNA decay. The relative abundances of intron reads in the PTC dataset from TCGA showed IR levels to differ significantly among PTC subtypes, possibly reflecting their different tumor behaviors. …”
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    Dissection of molecular and histological subtypes of papillary thyroid cancer using alternative splicing profiles
  8. 3968
    por Bastard, Paul, Hsiao, Kuang-Chih, Zhang, Qian, Choin, Jeremy, Best, Emma, Chen, Jie, Gervais, Adrian, Bizien, Lucy, Materna, Marie, Harmant, Christine, Roux, Maguelonne, Hawley, Nicola L., Weeks, Daniel E., McGarvey, Stephen T., Sandoval, Karla, Barberena-Jonas, Carmina, Quinto-Cortés, Consuelo D., Hagelberg, Erika, Mentzer, Alexander J., Robson, Kathryn, Coulibaly, Boubacar, Seeleuthner, Yoann, Bigio, Benedetta, Li, Zhi, Uzé, Gilles, Pellegrini, Sandra, Lorenzo, Lazaro, Sbihi, Zineb, Latour, Sylvain, Besnard, Marianne, Adam de Beaumais, Tiphaine, Jacqz Aigrain, Evelyne, Béziat, Vivien, Deka, Ranjan, Esera Tulifau, Litara, Viali, Satupa‘itea, Reupena, Muagututi‘a Sefuiva, Naseri, Take, McNaughton, Peter, Sarkozy, Vanessa, Peake, Jane, Blincoe, Annaliesse, Primhak, Sarah, Stables, Simon, Gibson, Kate, Woon, See-Tarn, Drake, Kylie Marie, Hill, Adrian V.S., Chan, Cheng-Yee, King, Richard, Ameratunga, Rohan, Teiti, Iotefa, Aubry, Maite, Cao-Lormeau, Van-Mai, Tangye, Stuart G., Zhang, Shen-Ying, Jouanguy, Emmanuelle, Gray, Paul, Abel, Laurent, Moreno-Estrada, Andrés, Minster, Ryan L., Quintana-Murci, Lluis, Wood, Andrew C., Casanova, Jean-Laurent
    Publicado 2022
    “…All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. …”
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    A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
  9. 3969
    “…Spondylocarpotarsal syndrome (SCT) is a rare musculoskeletal disorder characterized by short stature and vertebral, carpal, and tarsal fusions resulting from biallelic nonsense mutations in the gene encoding filamin B (FLNB). …”
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    Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model
  10. 3970
    “…No apparent differences were noted between samples harboring genetically inactivating (frame-shift or nonsense) mutations and samples with other mutations. …”
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    Genetic and Clinical Characteristics of ARID1A Mutated Melanoma Reveal High Tumor Mutational Load without Implications on Patient Survival
  11. 3971
    “…Conclusions: We propose a competition mechanism between the viral RNA genome and the regulatory lncRNAs in the sequestering of specific RBPs that modulates the interferon response and the regulation of RNA surveillance by nonsense-mediated decay (NMD).…”
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    The interplay between lncRNAs, RNA-binding proteins and viral genome during SARS-CoV-2 infection reveals strong connections with regulatory events involved in RNA metabolism and immune response
  12. 3972
    “…Here we tested if acidified drinking water has therapeutic effects in Cln1(R151X) nonsense mutant mice, a model of the infantile form of Batten disease. …”
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    Acidified drinking water attenuates motor deficits and brain pathology in a mouse model of a childhood neurodegenerative disorder
  13. 3973
    “…However, there are abundant BARD1 isoforms exist that are different from the full-length BARD1 due to nonsense and frameshift mutations, or deletions were found to be associated with susceptibility to various cancers including neuroblastoma, lung, breast, and cervical cancers. …”
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    BARD1 mystery: tumor suppressors are cancer susceptibility genes
  14. 3974
    por Cherry, Joshua L.
    Publicado 2022
    “…In addition, the Santa Maria subclade carries a nonsense mutation affecting ArsR, a repressor of genes that confer resistance to arsenic and antimony. …”
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    Recent Genetic Changes Affecting Enterohemorrhagic Escherichia coli Causing Recurrent Outbreaks
  15. 3975
    “…Using positional cloning combined with whole-genome resequencing, we found that hov1 carries a nonsense mutation, leading to a premature stop codon on the HEAT SHOCK TRANSCRIPTION FACTOR B2b (HsfB2b), which encodes a repressive heat shock transcription factor. …”
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    HEAT SHOCK TRANSCRIPTION FACTOR B2b acts as a transcriptional repressor of VIN3, a gene induced by long-term cold for flowering
  16. 3976
    “…The majority of variant transcripts were shown to escape nonsense-mediated decay and modelling of the predicted protein structure suggests that the in-frame 7 amino acid deletion may affect OPA1 oligomerisation. …”
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    Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
  17. 3977
    “…In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. …”
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    Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X
  18. 3978
    “…We adopted a block design with two conditions during fMRI scanning: observing a sensory video of brushing (task condition A, defined as SO) and brushing subjects' right forearms while they watched a nonsense string (task condition B, defined as SS). …”
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    Comparison of Sensory Observation and Somatosensory Stimulation in Mirror Neurons and the Sensorimotor Network: A Task-Based fMRI Study
  19. 3979
    “…In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the X chromosome identified by exome sequencing in individuals with neurodevelopmental disorders. …”
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    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
  20. 3980
    “…Among these mutants, there were eleven nonsynonymous substitution mutants, one nonsense mutant, and two single nucleotide deletion mutants that could be expected to reduce or eliminate gene function. …”
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    Development of Ethyl Methanesulfonate Mutant Edamame Soybean (Glycine max (L.) Merr.) Populations and Forward and Reverse Genetic Screening for Early-Flowering Mutants
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