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  1. 1221
    “…We show that nonsense codons from variable (V) Igκ exons promote exon-skipping and synthesis of V domain-less κ light chains (ΔV-κLCs). …”
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    A plasma cell differentiation quality control ablates B cell clones with biallelic Ig rearrangements and truncated Ig production
  2. 1222
    “…Whole-exome sequencing (WES) of the patient identified the novel nonsense mutation in an apparently homozygous state. …”
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    Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
  3. 1223
    “….*24G>A) with putative pathogenic impact were found in HBOC patients with breast cancer onset at ≤ 36 years. The nonsense mutation c.519G>A p.(Trp173*) was located within the DNA binding domain of GT198 and is predicted to induce nonsense-mediated mRNA decay. …”
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    GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families
  4. 1224
    “…Furthermore, all of the 19 SNPs originating from frameshift/ nonsense mutations found in DNASE1L2 resulted in loss of function of the enzyme. …”
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    Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis
  5. 1225
    “…Among these, three missense mutations and one nonsense mutation were predicted to have severe impacts on protein function. …”
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    Novel mutant alleles of the starch synthesis gene TaSSIVb-D result in the reduction of starch granule number per chloroplast in wheat
  6. 1226
    “…In this study we generated human induced pluripotent stem cells‐derived cardiomyocytes from patients who harbored different LMNA mutations (nonsense and frameshift) to evaluate the potential therapeutic effects of PTC124 in LMNA‐related cardiomyopathy. …”
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    Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells
  7. 1227
    “…Of these mutations, 13 homozygous missense mutations and two homozygous nonsense mutations were observed and all were transmitted into the M3 and M4 generations. …”
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    Induced Mutagenesis in UGT74S1 Gene Leads to Stable New Flax Lines with Altered Secoisolariciresinol Diglucoside (SDG) Profiles
  8. 1228
    “…Hierarchical cluster analysis revealed that response patterns were very similar across all three groups, but very different between the nonsense word and tone tasks, despite identical artificial grammar structures. …”
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    Artificial grammar learning in vascular and progressive non-fluent aphasias
  9. 1229
    “…The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.…”
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    Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
  10. 1230
    “…No nonsense or essential splice site mutations were found in 2,479 controls, while five such variants were found in the ExAC database. …”
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    The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
  11. 1231
    “…In this study, we employed whole‐exome sequencing to explore the potential causative genes in a Chinese family with ventricular tachycardia and syncope. A novel nonsense mutation (c.565C>T/p.R189X) of glycerol‐3‐phosphate dehydrogenase‐like (GPD1L) was identified and co‐segregated with the affected family members. …”
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    Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death
  12. 1232
    “…Primary familial and congenital polycythemia is characterized by erythropoietin hypersensitivity of erythroid progenitors due to germline nonsense or frameshift mutations in the erythropoietin receptor gene. …”
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    New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis
  13. 1233
    “…We identified 50 different variants, 33 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in EXT1 and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2. …”
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    Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas
  14. 1234
    “…The most common mutations were nonsense mutations (52.17%), followed by splicing (24.35%), frameshift (17.39%), and missense mutations (5.22%), in addition to a single untranslated region mutation (0.87%). …”
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    Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
  15. 1235
    “…(Gln150X) heterozygous nonsense mutation (Family 4), a c.1057-2A>T heterozygous splicing substitution (Family 5), and a c.1468dupC, p.…”
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    Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
  16. 1236
    “…Whole exome sequencing revealed a nonsense variant (c.3340G>T, p.E1114*) within the final exon in family 1, while Sanger sequencing in family 2 revealed a variant (c.3383-1G>A) in the canonical splice acceptor site of the final exon. …”
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    Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta
  17. 1237
    por Wang, James Jiqi, Yu, Bo, Li, Zongzhe
    Publicado 2019
    “…CONCLUSIONS: Our study firstly revealed that the coexistence of a novel WNK1 nonsense variant and a CNV resulted in HSAN type IIA in a Han Chinese family. …”
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    The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA
  18. 1238
    “…WES of the index case identified the homoallelic nonsense variant, c.112C > T in ARL6IP1 that segregated with the phenotype and was predicted to result in loss of the protein. …”
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    Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
  19. 1239
    “…RESULTS: In two multi‐generation non‐consanguineous families, we identified different nonsense sequence variations in C19orf12 that segregate with the MPAN phenotype. …”
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    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)
  20. 1240
    “…Expression of retinal mRNA was similar between an OSD-affected NID and OSD-unaffected non-NID. In conclusion, a nonsense variant in COL9A3 is strongly associated with OSD in NID, and appears to be widespread in this breed.…”
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    Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog
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