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  1. 4001
    “…RESULTS: Generally, the RF and XGboost models give more identical, consistent, and robust relative importance order of factors that is also accordant with the statistical analysis, while the LSVM gives much different and nonsense orders for different inputs. Results of the RF and XGboost models show that (1) generally, the models achieve accuracy scores above 0.9, indicating effective identification of leukemia, and (2) the top three factors that contribute most to the identification of leukemia include red blood cell (RBC), hematocrit (HCT), and white blood cell (WBC), while the other factors contribute relatively less. …”
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    Leukemia can be Effectively Early Predicted in Routine Physical Examination with the Assistance of Machine Learning Models
  2. 4002
    “…Genotype–phenotype analysis showed that the biallelic variants with more harmful effects, such as nonsense variants, caused OODD syndrome (#660 Ⅱ-1) or severe nonsyndromic tooth agenesis (NSTA) (#681 Ⅱ-1); the biallelic variants with less harmful effects, such as missense variants, caused a mild form of NSTA (#829 Ⅱ-2 and #338 Ⅱ-1). …”
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    Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype
  3. 4003
    “…All mutations of SYNGAP1 in the 10 patients were de novo, except patient 3 whose father was unavailable, including five nonsense mutations, two frameshift mutations, two splicing mutations, and one codon deletion. …”
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    Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations
  4. 4004
    “…At variant-subtype level, using tissue as reference, concordance was high for nonsense (93%), splice (87%), and frameshift (86%) alterations but lower for large rearrangements (63%) and homozygous deletions (27%), with low ctDNA fraction being a limiting factor. …”
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    Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound
  5. 4005
    “…Here, we report two independent families in which the nonsense mutations c.433C>T/c.658C>T/c.983G>A (p. Arg145*/p. …”
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    ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity
  6. 4006
    “…METHODS: Intramuscular EMG recordings were made from the right inferior head of the LPT and/or the right MPT in five participants during production of 40 target nonsense words (NWs) consisting of three syllables in the form /V(1) C ( 1 ) V ( 2 ) C(2)ə/ (V = vowel; C = consonant; ə = unstressed, reduced vowel), spoken by each participant 10 times per NW; analysis focussed on the target syllable, C ( 1 ) V ( 2 ). …”
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    Pterygoid muscle activity in speech: A preliminary investigation
  7. 4007
    “…RESULTS: Differential methylation analysis did not show significant differences in methylation levels between CH cases and controls, but a different methylation status of several genes may explain the CH discordance of a monozygotic twin couple carrying a monoallelic nonsense mutation of DUOX2. In addition, the median number of hypo-methylated Stochastic Epigenetic Mutations (SEMs) resulted significantly increased in cases compared to controls. …”
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    Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
  8. 4008
    “…The cBioPortal for Cancer Genomics was used to visualize genetic alteration profiles. Furthermore, nonsense-mediated mRNA decay (NMD) analysis, correlation analysis, consensus clustering analysis, immune cell infiltration analysis, and weighted co-expression network analysis were conducted. …”
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    Identification of tumor antigens and immune landscapes for bladder urothelial carcinoma mRNA vaccine
  9. 4009
    “…Upon infection, severe acute respiratory syndrome—coronavirus 2 (SARS-CoV-2) is predicted to interact with diverse cellular functions, such as the nonsense-mediated decay (NMD) pathway, as suggested by the identification of the core NMD factor upframeshift-1 (UPF1) in the SARS-CoV-2 interactome, and the retrograde transport from the Golgi to the endoplasmic reticulum (ER) through the endoplasmic reticulum–Golgi intermediate compartment (ERGIC), where coronavirus assembly occurs. …”
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    Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection
  10. 4010
    “…Full-length long-read isoform cDNA sequencing after treatment with a nonsense-mediated mRNA decay (NMD) inhibitor revealed that this variant creates five distinct altered splicing transcripts. …”
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    Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
  11. 4011
    “…Finally, we show that the altered cWnt signaling was reverted in USH1C patient fibroblast cells by the application of Ataluren, a small molecule suitable to induce translational read-through of nonsense mutations, hereby restoring some USH1C expression. …”
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    The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling
  12. 4012
    “…To test this prediction, Experiment 2 compared performance on the described experiment between a participant group that received the standard diagnostic labels to a group that received fictional diagnostic labels, nonsense words designed to remove prior knowledge with each diagnosis. …”
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    Learning strategy impacts medical diagnostic reasoning in early learners
  13. 4013
    “…CONCLUSION: We have discovered that a de novo nonsense mutation in exon 2 of GNAS can lead to POH. …”
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    Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review
  14. 4014
    por Lötsch, Jörn, Ultsch, Alfred
    Publicado 2023
    “…The experimental results show that the recursive cABC analysis limits the dimensions of the data projection to a minimum where the relevant information is still preserved and directs the feature selection in machine learning to the most important class-relevant information, including filtering feature sets for nonsense variables. Feature sets were reduced to 10% or less of the original variables and still provided accurate classification in data not used for feature selection. cABC analysis, in its recursive variant, provides a computationally precise means of reducing information to a minimum. …”
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    Recursive computed ABC (cABC) analysis as a precise method for reducing machine learning based feature sets to their minimum informative size
  15. 4015
    “…Missense mutations were predominant (>80%), whereas indels, nonsense, and splice site variants were less represented. …”
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    The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study
  16. 4016
    “…We observed that the prevalences of rdxA sequences with missense, nonsense, and frameshift mutations were 70.25, 11.35, and 17.03%, respectively. …”
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    RdxA Diversity and Mutations Associated with Metronidazole Resistance of Helicobacter pylori
  17. 4017
    “…Both XKR8 mRNA and XKR8 protein were expressed in the mouse inner ear, predominantly in regions of spiral ganglion neurons; Moreover, this nonsense variant impaired the surface localization of XKR8 in cells. …”
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    A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy
  18. 4018
    “…This variant inactivated the donor splice site, a cryptic non-canonical splice site was used for different splicing changes in two affected subjects, and the resulting mutant messenger RNA may be degraded by nonsense-mediated decay. The defects of in silico tools and minigene assay in predicting cryptic splice sites were suggested. …”
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    The TSC2 c.2742+5G>A variant causes variable splicing changes and clinical manifestations in a family with tuberous sclerosis complex
  19. 4019
    “…Three CBFB variants (one splice site alteration, one nonsense variant, one 2 bp duplication) were shown to result in a premature stop codon. …”
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    Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
  20. 4020
    “…Most AEBP1 variants were predicted or experimentally confirmed to lead to nonsense-mediated mRNA decay, whereas one variant resulted in a protein that was retained intracellularly and not secreted. …”
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    Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
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