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  1. 1921
    “…Finally, we check the influence of Nonsense Mediated Decay (MMD) by comparing RNA and DNA sequencing results. …”
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    Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer
  2. 1922
    “…In our previous study, we have developed a zebrafish model of cystinosis through a nonsense mutation in the CTNS gene and have shown that zebrafish larvae recapitulate the kidney phenotype described in humans. …”
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    Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis
  3. 1923
    “…Whole‐exome sequencing conducted in two independent laboratories revealed a CHD8 nonsense variant in one patient and a frameshift variant in the second. …”
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    Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8
  4. 1924
    por Fajac, Isabelle, Sermet, Isabelle
    Publicado 2021
    “…Other approaches aiming at correcting the CFTR defect develop new mutation-specific or mutation-agnostic therapies for mutations that do not produce a CFTR protein: readthrough agents for nonsense mutations, nucleic acid-based therapies, RNA- or DNA-based, and cell-based therapies. …”
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    Therapeutic Approaches for Patients with Cystic Fibrosis Not Eligible for Current CFTR Modulators
  5. 1925
    por Lu, Yen-Yun, Krebber, Heike
    Publicado 2021
    “…In case a stop codon was detected before an EJC, translation is blocked and the RNA is eliminated by the nonsense-mediated decay (NMD). In the model organism Saccharomyces cerevisiae, two guard proteins, Gbp2 and Hrb1, have been identified as nuclear quality control factors for splicing. …”
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    Nuclear mRNA Quality Control and Cytoplasmic NMD Are Linked by the Guard Proteins Gbp2 and Hrb1
  6. 1926
    “…Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. …”
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    A Novel Variant in Iranian Patient with Cystinuria: A Case Report
  7. 1927
    “…This is prevented by nonsense-mediated mRNA decay (NMD) of these mRNAs. …”
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    Translational repression of NMD targets by GIGYF2 and EIF4E2
  8. 1928
    “…The preview was either a pseudocharacter (nonsense preview) or an identity preview. We obtained clear preview effects in all conditions, but more importantly, skipping probability for the second character of the target word and the whole target word from pretarget was greater when it was predictable than when it was not predictable from the preceding context. …”
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    Predictability effects and parafoveal processing of compound words in natural Chinese reading
  9. 1929
    “…Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. …”
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    Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
  10. 1930
    “…We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97(∗)) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. …”
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    A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene
  11. 1931
    “…We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. …”
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    Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
  12. 1932
    “…At the same time, the degradation of these mRNAs was partially temperature-compensated through Upf1, the mediator of nonsense-mediated decay. Compensation was also promoted by some asparagine and serine codons, whereas tyrosine codons promote temperature sensitization. …”
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    Determinants of the temperature adaptation of mRNA degradation
  13. 1933
    “…Using RNA sequencing, we identified a nonsense mutation in the Phytochromobilin synthase (MtPΦBS) gene, which encodes an enzyme that carries out the final step in the biosynthesis of the chromophore required for phytochrome (phy) activity. …”
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    A Point Mutation in Phytochromobilin synthase Alters the Circadian Clock and Photoperiodic Flowering of Medicago truncatula
  14. 1934
    “…In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c.25 C > T: p.Gln9Ter) in a patient with an atypical clinical phenotype. …”
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    A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
  15. 1935
    “…Although, the loss-of-function mutations such as those usually including nonsense, frameshift, splice site, and also fewer missense variants in PIEZO1 have been proved to lead to LMPHM6, among these, the biallelic homozygous mutations resulting in the loss of function of PIEZO1 have not been reported before. …”
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    A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops
  16. 1936
    por He, Feng, Wu, Chan, Jacobson, Allan
    Publicado 2022
    “…Two Upf1-binding motifs direct the decapping enzyme to nonsense-mediated mRNA decay substrates, a single Edc3-binding motif targets both Edc3 and Dhh1 substrates, and Pat1-binding leucine-rich motifs target Edc3 and Dhh1 substrates under selective conditions. …”
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    Dcp2 C-terminal cis-binding elements control selective targeting of the decapping enzyme by forming distinct decapping complexes
  17. 1937
    “…Both conditions are predominantly caused by de novo missense or nonsense mono-allelic variants. They are characterized by a generalized developmental delay, intellectual disability, behavioral problems (hyperactivity, repetitive movements and social interaction deficits), hypotonia, motricity and verbalization deficits. …”
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    Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?
  18. 1938
    “…In vivo delivery of cadRNAs via adeno-associated viruses enabled 53% RNA editing of the mPCSK9 transcript in C57BL/6J mice livers, and 12% UAG-to-UGG RNA correction of the amber nonsense mutation in the IDUA-W392X mouse model of mucopolysaccharidosis type I-Hurler (MPS I-H) syndrome. cadRNAs enable efficient programmable RNA editing in vivo with diverse protein modulation and gene therapeutic applications,…”
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    Efficient in vitro and in vivo RNA editing via recruitment of endogenous ADARs using circular guide RNAs
  19. 1939
    “…WES revealed a homozygous nonsense variant in the FRA10AC1 gene in both siblings. …”
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    A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
  20. 1940
    “…Here, we generate strains containing new conditional or nonsense mutations in the Caenorhabditis elegans Haspin homologs hasp-1 and hasp-2 and characterize their phenotypes. …”
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    Genetic analysis of Caenorhabditis elegans Haspin-like genes shows that hasp-1 plays multiple roles in the germline
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