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  1. 2181
    “…RESULTS: We identified a novel heterozygous nonsense variant of FAM83H (NM_198488: c.1975G > T, p.Glu659Ter); in vitro functional analysis showed that this mutant produced mislocalized proteins and was deleterious. …”
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    A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance
  2. 2182
    por De, Soumasree, Mühlemann, Oliver
    Publicado 2022
    “…We tested whether ZNF598 also plays a role in nonsense-mediated mRNA decay (NMD) but found that it is dispensable for this translation termination-associated mRNA surveillance pathway, which in combination with other recent data argues against stable ribosome stalling at termination codons being the NMD-triggering signal.…”
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    A comprehensive coverage insurance for cells: revealing links between ribosome collisions, stress responses and mRNA surveillance
  3. 2183
    “…ERAP2 instead has evolved under balancing selection that maintains two haplotypes, one of which undergoing RNA splicing leading to nonsense-mediated decay and loss of protein. Hence, likewise in rodents, wherein the ERAP2 gene is missing, about a quarter of the human population does not express ERAP2. …”
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    A Short ERAP2 That Binds IRAP Is Expressed in Macrophages Independently of Gene Variation
  4. 2184
    “…Two cases of epidermolysis bullosa dystrophica (EBD), with a novel homozygous, nonsense mutations in exon 54 (c. 5047C > T) and exon 104 (c. 7762C > T) of COL7A1 gene. …”
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    Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes
  5. 2185
    “…Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense variant in the ERCC6 gene, NM_000124.4: c.[2839C>T;2936A>G], p.…”
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    Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
  6. 2186
    “…Different deletions or nonsense mutations have been described in the ENG (HHT1) or ACVRL1/ALK1 (HHT2) genes, all affecting endothelial homeostasis. …”
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    A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2
  7. 2187
    “…Loss of SMG-1, an ATM/ATR-like kinase central to RNA surveillance by nonsense-mediated decay (NMD), restores DNA repair and radio-resistance in THO-deficient animals. …”
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    THO complex deficiency impairs DNA double-strand break repair via the RNA surveillance kinase SMG-1
  8. 2188
    “…In all but one of the pairs more (1.7–8.5 fold) new alleles were found at 42 °C. Most frameshift, nonsense, or start-loss mutations were also found at 42 °C. …”
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    Genomic Analysis Reveals That Isolation Temperature on Selective Media Introduces Genetic Variation in Campylobacter jejuni from Bovine Feces
  9. 2189
    por Singh, Swati
    Publicado 2022
    “…Truncating mutations (missense, frameshift, and nonsense) in the Forkhead family gene FOXC2 are involved in the distichiasis–lymphedema syndrome. …”
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    Distichiasis: An update on etiology, treatment and outcomes
  10. 2190
    “…The mutation is predicted to cause nonsense mutation-mediated mRNA decay (NMD) in all RANK isoform transcripts, resulting in totally null allele. …”
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    A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis
  11. 2191
    “…These point mutations included missense mutations (amino acid substitution), nonsense mutations (stop codon generation), and frameshift mutations. …”
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    CRISPR/Cas9-mediated point mutations improve α-amylase secretion in Saccharomyces cerevisiae
  12. 2192
    “…The detected mutations included 5 missense, 2 nonsense, 1 deletion, and 2 insertions. Further gene analysis showed 4 mutations in the SCN4A gene in patients diagnosed with paramyotonia congenita. …”
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    Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people
  13. 2193
    por Paik, Hyojung, Kim, Jimin, Seo, Sangjae
    Publicado 2022
    “…Here, based on germline variants in the UK Biobank covering 502,543 individuals, we revealed the molecular interactions between human angiotensin-converting enzyme 2 (hACE2), which is the representative receptor for SARS-CoV-2 entry, and COVID-19 infection. We identified six nonsense and missense variants of hACE2 from 2585 subjects in the UK Biobank covering 500000 individuals. …”
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    Analysis of the docking property of host variants of hACE2 for SARS-CoV-2 in a large cohort
  14. 2194
    “…Six mutations in the salt-inducible kinase 1 (SIK1) have been identified in developmental and epileptic encephalopathy (DEE-30) patients, and two of the mutations are nonsense mutations that truncate the C-terminal region of SIK1. …”
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    An Epilepsy-Associated Mutation of Salt-Inducible Kinase 1 Increases the Susceptibility to Epileptic Seizures and Interferes with Adrenocorticotropic Hormone Therapy for Infantile Spasms in Mice
  15. 2195
    “…Positive regulation of Tor signaling was downregulated and nuclear transcribed mRNA catabolic process nonsense-mediated decay was upregulated at P56. Moreover, the differentially expressed proteins at P15 were enriched in metabolism of RNA and RNA destabilization. …”
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    Retinal Proteomic Alterations and Combined Transcriptomic-Proteomic Analysis in the Early Stages of Progression of a Mouse Model of X-Linked Retinoschisis
  16. 2196
    “…Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. …”
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    Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report
  17. 2197
    “…We demonstrated that TRIM25 targets proteins implicated in stress granule formation (G3BP1/2), nonsense-mediated mRNA decay (UPF1), nucleoside synthesis (NME1), and mRNA translation and stability (PABPC4). …”
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    Elucidation of TRIM25 ubiquitination targets involved in diverse cellular and antiviral processes
  18. 2198
    “…We identified 35 pathogenic and likely pathogenic (P/LP-Vs) variants (28 frameshift, 5 nonsense, and 2 splice-site variants). The P/LP-Vs group was statistically significantly different in luminal B status (p < 0.05) compared with the non-P/LP-Vs group. …”
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    Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population
  19. 2199
    “…Here we report a Colombian female patient with facial gestalt, intellectual disability, microcephaly, congenital heart defects, hypothyroidism and middle ear defect associated with the nonsense pathogenic variant c.2761C>T (p.Arg921Ter) in the ZEB2 gene. …”
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    Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
  20. 2200
    “…In this study, dual adeno-associated virus (AAV) vectors containing split adenine base editors (ABEs) with trans-splicing intein were prepared for in vivo base editing in retinal degeneration of 12 (rd12) mice, an animal model of LCA, possessing a nonsense mutation of C to T transition in the Rpe65 gene (p.R44X). …”
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    Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing
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