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  1. 3561
    “…RESULTS: From 1629 unrelated cases with craniosynostosis we identified seven different SIX1 variants (three missense, including two de novo mutations, and four nonsense, one of which was also present in an affected twin). …”
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    Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
  2. 3562
    por Talley, Elyse M, Watts, Charlie T, Aboyer, Sonia, Adamson, Madeline G, Akoto, Harriet AB, Altemus, Haley, Avella, Philip J, Bailey, Rebecca, Bell, Elizabeth R, Bell, Katheryn L, Breneman, Kelsey, Burkhart, Jessica S, Chanley, Logan J, Cook, Savannah S, DesLaurier, Mackenzie T, Dorsey, Timothy R, Doyle, Cassandra J, Egloff, Merris E, Fasawe, Ayoola S, Garcia, Katy K, Graves, Nathaniel P, Gray, Tyler K, Gustafson, Evan M, Hall, Makayla J, Hayes, Jaden D, Holic, Lindsay J, Jarvis, Brice A, Klos, Piotr S, Kritzmire, Sidney, Kuzovko, Lera, Lainez, Edwyna, McCoy, Shamerra, Mierendorf, James C, Neri, Nicole A, Neville, Caley R, Osborn, Kelley, Parker, Kaitlyn, Parks, Megan E, Peck, Kylee, Pitt, Robyn, Platta, Matthew E, Powell, Brianna, Rodriguez, Katalina, Ruiz, Clara, Schaefer, Mariah N, Shields, Amanda B, Smiley, Jasmine B, Stauffer, Briona, Straub, Devan, Sweeney, John L, Termine, Kaitlyn M, Thomas, Brett, Toth, Sophia D, Veile, Taylor R, Walker, Kayla S, Webster, Paige N, Woodard, Brian J, Yoder, Quentin L, Young, McKenzie K, Zeedyk, McKenzie L, Ziegler, Logan N, Bieser, Kayla L, Puthoff, David P, Stamm, Joyce, Vrailas-Mortimer, Alysia D, Kagey, Jacob D, Merkle, Julie A
    Publicado 2021
    “…H.3.2 was found to have a nonsense mutation in short stop (shot), anortholog of the mammalian spectraplakin dystonin (DST). shot and DST are involved in cytoskeletal organization and play roles during cell growth and proliferation.…”
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    Genetic mapping and phenotypic analysis of shot(H.3.2) in Drosophila melanogaster
  3. 3563
    “…A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2, c.687C>A (p.Y229X) (NCBI reference sequence: NM_001172509.2), and neither of his parents had the mutation. …”
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    SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review
  4. 3564
    “…In patients with myeloid malignancies, ASXL1 mutations are usually heterozygous frameshift or nonsense mutations leading to C-terminal truncation. …”
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    Asxl1 C-terminal mutation perturbs neutrophil differentiation in zebrafish
  5. 3565
    “…Eukaryotic initiation factor 4A-III (eIF4A3), a core helicase component of the exon junction complex, is essential for splicing, mRNA trafficking, and nonsense-mediated decay processes emerging as targets in cancer therapy. …”
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    The exon-junction complex helicase eIF4A3 controls cell fate via coordinated regulation of ribosome biogenesis and translational output
  6. 3566
    “…We estimated the predicted prevalence of Gitelman syndrome based on multiple genome databases, HGVD and jMorp for the Japanese population and gnomAD for other ethnicities, and included all 274 pathogenic missense or nonsense variants registered in HGMD Professional. …”
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    Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
  7. 3567
    “…Introducing single nucleotide deletion (generated BSR) or nonsense mutation (generated BSRN) on the genomic copy of rpe, resulting in more than fivefold increase of riboflavin production over the parental strain. …”
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    Improving the Production of Riboflavin by Introducing a Mutant Ribulose 5-Phosphate 3-Epimerase Gene in Bacillus subtilis
  8. 3568
    “…We identified a set of nonsense mutations, missense mutations, and frameshift variants carried by low‐fertility bulls. …”
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    Targeted sequencing reveals candidate causal variants for dairy bull subfertility
  9. 3569
    “…Comparative analysis of transcriptomes identified differentially expressed genes and isoforms as well as transcriptional and post-transcriptional modifications such as alternative splicing events, fusion genes and nonsense-mediated mRNA decay events and non-coding RNA such as circRNA and lncRNA. …”
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    Pan-transcriptome identifying master genes and regulation network in response to drought and salt stresses in Alfalfa (Medicago sativa L.)
  10. 3570
    “…DNA sequencing identified a heterozygous pathogenic variation (c.4390delG p.Val1464Ter) in the sisters, with a maternal inheritance. The nonsense mutation, located on exon 12, results in premature truncation and presumed loss of protein function. …”
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    Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature
  11. 3571
    “…Eight mutations were detected in PAX6, including four nonsense, three frameshift, and one splice site. In addition, two point mutations were identified in the FOXC1 and PITX2 genes in patients without mutation in PAX6. …”
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    Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals
  12. 3572
    “…Using a genome-wide association study (GWAS) approach in 92 pigeons, we mapped the pearl iris trait to a 9 kb region containing the facilitative glucose transporter gene SLC2A11B. A nonsense mutation (W49X) leading to a premature stop codon in SLC2A11B was identified as the causal variant. …”
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    The genetics and evolution of eye color in domestic pigeons (Columba livia)
  13. 3573
    “…So far 261 pathogenic variants have been described, missense/nonsense mutations being the most prevalent. There are five mouse models of GM1-gangliosidosis reported in the literature generated using different targeting strategies of the Glb1 murine locus. …”
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    GM1 Gangliosidosis—A Mini-Review
  14. 3574
    por Gronau, Nurit
    Publicado 2021
    “…Pairs of stimuli—either objects, scenes or a scene and an object—were briefly presented on each trial, while participants were asked to detect a pre-defined target category (e.g., an animal, a nonsense shape). Response times (RTs) to the target detection task were registered when visual attention spanned both stimuli in a pair vs. when attention was focused on only one of two stimuli. …”
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    To Grasp the World at a Glance: The Role of Attention in Visual and Semantic Associative Processing
  15. 3575
    “…Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome. …”
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    Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome
  16. 3576
    “…In-depth phenotyping and neuroimaging features were investigated in all patients with novel MYORG variants. Two nonsense variants (c.442C > T, p. Q148*; c.972C > A, p. …”
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    Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification
  17. 3577
    “…Targeted Sanger sequencing of MMACHC gene in amniotic fluid revealed that the fetus carried only one nonsense variant [NM_015506.2:c.609G>A (p.Trp203*)], which was inherited from the father. …”
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    Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis
  18. 3578
    “…Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). …”
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    Clinical and Immunological Features of Human BCL10 Deficiency
  19. 3579
    “…A nonsense allele at rs1343879 in human MAGEE2 on chromosome X has previously been reported as a strong candidate for positive selection in East Asia. …”
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    A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice
  20. 3580
    “…Here, we report the identification of three variants in five affected individuals in two unrelated families. In family 1, a nonsense mutation (c.1516C>T, p.R506*) in the ATP6V1B2 gene, a known causal allele for dominant deafness-onychodystrophy (DDOD), was identified in the mother and son with DDOD. …”
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    Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy
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