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  1. 4281
    “…We investigated if a correlation between the RIND score and nonsense-mediated decay (NMD) could be established. …”
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    Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
  2. 4282
    “…The detected mutations were five missense mutations (p.A79V, p.L346R, p.T388K, p.P496R, and p.C577Y), two nonsense mutations (p.Y618* and p.R628*), two deletions (c.683delC and c.1591delC), one splice site mutation (c.972+1G>A), and one duplication (c.613_617dup). …”
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    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
  3. 4283
    “…RESULTS: In our search for responsible autophagic regulatory genes upstream of mammalian target of rapamycin (mTOR), we now discovered that, in contrast to MES-SA cells, a TP53-637C>T nonsense mutation located in the transactivating domain of the oncogenic suppressor p53 causes loss of its protein and consequently reduced PUMA induction in ESS-1 cells. …”
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    Molecular mechanism leading to SAHA-induced autophagy in tumor cells: evidence for a p53-dependent pathway
  4. 4284
    “…Three previously reported missense mutations, (i) c.532C>T (p.R178C), (ii) c.964G>T (p.D322Y), and (iii) c.1385A>T (p.E462V); two nonsense mutations (i) c.709C>T (p.Q237X) and (ii) c.1528C>T (p.R510X), one 4 bp insertion c.1277_1278insTATC (p.Y427IfsX5) and one splice site mutation c.459+5G>A were also identified in six cases. …”
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    Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
  5. 4285
    “…In particular the TLR1 S324* nonsense mutation was clearly overrepresented in the AR population. …”
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    Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population
  6. 4286
    “…The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. …”
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    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
  7. 4287
    “…Eight NKX2‐1/TTF‐1 mutations (five frameshift, two nonsense, and one missense) were identified, with one case harboring two distinct NKX2‐1/TTF‐1 mutations (one missense and one frameshift). …”
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    Inactivating mutations and hypermethylation of the NKX2‐1/TTF‐1 gene in non‐terminal respiratory unit‐type lung adenocarcinomas
  8. 4288
    “…SPEN reexpression in T47D cells containing a nonsense mutation in SPEN restored the primary cilium, whereas its knockdown in MCF10A and Hs578T cells considerably decreased primary cilia levels. …”
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    SPEN, a new player in primary cilia formation and cell migration in breast cancer
  9. 4289
    “…Patient 1 was a male with bilateral femoral fractures at 10 years, low BMD (Z-score −4.1; 18 years), and multiple vertebral compression fractures. He had a novel nonsense variant in PLS3. Patient 2 was a girl with multiple long bone and vertebral fractures and low BMD (Z-score −6.6 at 6 years). …”
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    PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
  10. 4290
    “…WES revealed a de novo splice-site mutation in STAT3 (c.1140-3C>G). cDNA sequencing showed nonsense mediated decay of the affected allele. No mutations in CARD9 or NADPH oxidase subunits were found; a DHR test was normal. …”
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    De novo STAT3 Mutation in a Patient with Fatal, Treatment-Refractory Sino-orbital Aspergillosis
  11. 4291
    “…Compared to controls, multiple cancer cases had significantly more likely damaging mutations (nonsense, frameshift ins/del) in tumour suppressor and tyrosine kinase genes and higher overall burden of mutations in all cancer genes. …”
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    Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers
  12. 4292
    “…Three cases of small cell carcinoma revealed completely negative p53 immunohistochemical expression in 15 cases of composite tumors, which suggested TP53 nonsense mutation pattern. The pure small cell carcinoma of uterine cervix had similar mutation or wild type pattern for TP53 compared with composite tumor (P = 0.224). …”
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    Cervical small cell carcinoma frequently presented in multiple high risk HPV infection and often associated with other type of epithelial tumors
  13. 4293
    “…High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. …”
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    Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
  14. 4294
    “…Here, the most interesting finding was an NF1 nonsense mutation in a child with a known TP53 frameshift mutation. …”
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    Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
  15. 4295
    “…Genome data mining for RLA candidates identified a premature nonsense-generating single nucleotide polymorphism (SNP) within the HapB allele of C7_03400c whose Saccharomyces cerevisiae ortholog encodes the essential Mtr4 RNA helicase. …”
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    Identification of Recessive Lethal Alleles in the Diploid Genome of a Candida albicans Laboratory Strain Unveils a Potential Role of Repetitive Sequences in Buffering Their Deleterious Impact
  16. 4296
    “…Results 48 variants were identified in 36 patients, 45 of them were known for damaging the protein function with 17 nonsense, frameshift or splice site mutations. The phenotype was fully explained by the genetic anomalies in 20 patients, it seems partial in 8, a digenic cause is supposed in 5 cases and polymorphism in 3 patients. …”
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    MON-224 Congenital Hypogonadotropic Hypogonadism: Features and Genetics of 60 Females Patients
  17. 4297
    por Moriwaki, Mika, Welt, Corrine
    Publicado 2019
    “…These findings suggest that the mutated PRL may undergo nonsense decay. The low circulating prolactin resulted in inability to breastfeed. …”
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    MON-434 Familial Alactogenesis Associated with a Prolactin Mutation
  18. 4298
    “…Most mutations led to a truncated product including indels, splice site or nonsense variants (56.3%), while 43.6.% were missense. …”
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    OR29-5 New Insights into the Genotype/Phenotype Profile of TMEM127 Germline Mutations
  19. 4299
    “…GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. …”
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    Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
  20. 4300
    “…Research exome sequencing (ES) was performed and revealed a novel de novo heterozygous nonsense mutation in NFKB2 (c.2611C>T, p.Gln871(*)) that was not carried by either of her parents. …”
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    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
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