“…Missense mutations were the most common type (12 of 19, 63%), followed by small deletions, nonsense mutations, an insertion, and a splice site mutation. …”
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“…We herein present a Chinese family with recurrent fetal losses due to compound heterozygous nonsense CEP55 variants. Case presentations: The Chinese couple had a history of five pregnancies, with four of them proceeding abnormally. …”
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“…The XIAP depleted cells were treated with a serial dilution of TRAIL or doxorubicin and compared to mock- and nonsense-treated controls. Viability was measured with a MTT assay. …”
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“…An analysis of the role of nonsense-mediated decay in regulating steady-state alternative mRNA isoforms was performed. …”
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“…Functional studies of the missense mutants (p.C33S, p.R84H) and of one nonsense mutant (p.Y138X) revealed impaired transcriptional activation of SF1-responsive target genes. …”
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“…Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. …”
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“…METHODOLOGY/FINDINGS: Twelve schizophrenia patients (SZ) and thirteen healthy control participants (CO) performed a phonological delayed-matching-to-sample-task in which a memory set of three nonsense words was presented, followed by a 6-seconds delay after which a probe nonsense word appeared. …”
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“…Quantification of the STK11 transcript at the mRNA-level revealed that the expression of alleles carrying a nonsense or frameshift mutation was reduced to 30-70% of that of the wild type allele. …”
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“…Sense codons that are similar in sequence to stop codons are more susceptible to nonsense mutation, and are also likely to be more susceptible to transcriptional or translational errors causing premature termination. …”
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“…Nine solitary patients carried this variant combined with a nonsense, frameshift, or splice site mutation on the second allele. …”
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“…The present study reports for the first time four novel mutations, including two missense substitutions, one nonsense substitution, and one frameshift deletion. …”
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“…The observed RBFOX3 exon 3 deletion and nonsense mutation suggest that RBFOX3 represents a novel risk factor for RE, indicating that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes.…”
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“…Single nucleotide polymorphism (SNP) discovery resulted in 3,537,794 SNP calls with 29,184 SNPs identified in coding regions, where 106 were nonsense and 259 were categorized as having a high-impact effect. …”
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“…In this study, we describe a four-generation Chinese family with a nonsense mutation in MIP associated with an autosomal dominant congenital cataract (ADCC), thus expanding the mutational spectrum of this gene. …”
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“…Reserve starch of nine M3 mutant lines carrying missense or nonsense mutations was analysed for granule size, crystallinity and amylose/amylopectin content. …”
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“…Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: p.Arg2517(*), p.Cys2371(*); one small deletion: p.Leu1944Phefs(*)6). …”
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“…By positional cloning, we identified the nonsense mutation c.444C>A outside the genomic region that encodes the homeodomain of the paired-like homeodomain transcription factor 3 gene (Pitx3) as the mutation responsible for the microphthalmia and aphakia. …”
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“…In Experiment 1, visual-only (VO) training on paired associations between CVCVC nonsense word videos and nonsense pictures demonstrated that VO words could be learned to a high level of accuracy even by poor lipreaders. …”
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“…Forty-eight 3-and 4-years-old English–Mandarin bilingual children listened to a story told either in English only (No-Switch), English and Mandarin (Familiar-Switch), English and Japanese (Unfamiliar-Switch), or English and English-sounding nonsense sentences (Nonsense-Switch). They were then asked to select an object (from a pair of familiar and novel objects) after hearing a novel label paired with the speaker’s point at the familiar object, e.g., “Can you give me the blicket?” …”
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“…Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. …”
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