Abstract:
:Melanoma patients with BRAF mutations respond to treatment with vemurafenib, thus creating a need for accurate testing of BRAF mutation status. We carried out a blinded study to evaluate various BRAF mutation testing methodologies in the clinical setting. Formalin-fixed, paraffin-embedded melanoma samples were macrodissected before screening for mutations using Sanger sequencing, single-strand conformation analysis (SSCA), high resolution melting analysis (HRM) and competitive allele-specific TaqMan® PCR (CAST-PCR). Concordance of 100% was observed between the Sanger sequencing, SSCA and HRM techniques. CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. HRM and SSCA followed by Sanger sequencing are effective two-step strategies for the detection of BRAF mutations in the clinical setting. CAST-PCR was useful for samples with low tumour purity and may also be a cost-effective and robust method for routine diagnostics.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Richter A,Grieu F,Carrello A,Amanuel B,Namdarian K,Rynska A,Lucas A,Michael V,Bell A,Fox SB,Hewitt CA,Do H,McArthur GA,Wong SQ,Dobrovic A,Iacopetta Bdoi
10.1038/srep01659subject
Has Abstractpub_date
2013-01-01 00:00:00pages
1659issn
2045-2322pii
srep01659journal_volume
3pub_type
杂志文章abstract::Among patients with non-small cell lung cancer (NSCLC), best supportive care (BSC) is well-known to improve patient's quality of life and prolong survival. This study aimed to clarify (1) the decision-making factors of BSC alone and (2) the prognostic factors after selection of no further anticancer therapies. We retr...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-56431-w
更新日期:2019-12-27 00:00:00
abstract::The fine-tuning of gene expression contributes to both basic science and applications. Here, we develop a novel gene expression technology termed CRITGI (CRISPR/Transposon gene integration). CRITGI uses CRISPR/Cas9 to integrate multiple copies of the plasmid pTy1 into Ty1 loci, budding yeast retrotransposons. The pTy1...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-51891-6
更新日期:2019-10-25 00:00:00
abstract::Innate immunity is induced when pathogen-associated molecular patterns (PAMPs) bind host pattern recognition receptors (PRRs). Polyinosinic:polycytidylic acid [poly(I:C)] is a synthetic analogue of viral dsRNA that acts as a PAMP, inducing type I interferons (IFNs) in vertebrates. In the present study, the immunostimu...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-49931-2
更新日期:2019-09-20 00:00:00
abstract::Silicon is the second most common element on the Earth's crust and its oxide (SiO(2)) the most abundant mineral. Silica and silicates are widely used in medicine and industry as well as in micro- and nano-optics and electronics. However, the fabrication of glass fibres and components requires high temperature and non-...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep00607
更新日期:2012-01-01 00:00:00
abstract::Inference of the biological roles of lncRNAs in breast cancer development remains a challenge. Here, we analyzed RNA-seq data in tumor and normal breast tissue samples from 18 breast cancer patients and 18 healthy controls and constructed a functional lncRNA-mRNA co-expression network. We revealed two distinctive co-e...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep32731
更新日期:2016-09-06 00:00:00
abstract::Recent reports regarding the re-emergence of parasite sensitivity to chloroquine call for a new consideration of this drug as an interesting complementary tool in malaria elimination efforts, given its good safety profile and long half-life. A randomized (2:1), single-blind, placebo-controlled trial was conducted in M...
journal_title:Scientific reports
pub_type: 杂志文章,随机对照试验
doi:10.1038/s41598-017-01365-4
更新日期:2017-05-02 00:00:00
abstract::Protein ubiquitylation participates in a number of essential cellular processes including signal transduction and transcription, often by initiating the degradation of specific substrates through the 26S proteasome. Within the ubiquitin-proteasome system, deubiquitylating enzymes (DUBs) not only help generate and main...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-53229-8
更新日期:2019-11-19 00:00:00
abstract::A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper. ...
journal_title:Scientific reports
pub_type: 已发布勘误
doi:10.1038/s41598-017-14857-0
更新日期:2017-11-16 00:00:00
abstract::Temporal binding of urea to lysozyme was examined using X-ray diffraction of single crystals of urea/lysozyme complexes prepared by soaking native lysozyme crystals in solutions containing 9 M urea. Four different soak times of 2, 4, 7 and 10 hours were used. The five crystal structures (including the native lysozyme)...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep32277
更新日期:2016-08-30 00:00:00
abstract::Lnc2Catlas ( http://lnc2catlas.bioinfotech.org/ ) is an atlas of long noncoding RNAs (lncRNAs) associated with cancer risk. LncRNAs are a class of functional noncoding RNAs with lengths over 200 nt and play a vital role in diverse biological processes. Increasing evidence shows that lncRNA dysfunction is associated wi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-20232-4
更新日期:2018-01-30 00:00:00
abstract::Infants' sensitivity to selectively attend to human speech and to process it in a unique way has been widely reported in the past. However, in order to successfully acquire language, one should also understand that speech is a referential, and that words can stand for other entities in the world. While there has been ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep13594
更新日期:2015-09-01 00:00:00
abstract::We sequenced coding regions of the cluster of differentiation 36 (CD36) gene in 184 French individuals of European ancestry presenting simultaneously with type 2 diabetes (T2D), arterial hypertension, dyslipidemia, and coronary heart disease. We identified rare missense mutations (p.Pro191Leu/rs143150225 and p.Ala252V...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-53388-8
更新日期:2019-11-20 00:00:00
abstract::Dysfunction or death of retinal pigment epithelial (RPE) cells is involved in some forms of Retinitis Pigmentosa and in age-related macular degeneration (AMD). Since there is no cure for most patients affected by these diseases, the transplantation of RPE cells derived from human pluripotent stem cells (hPSCs) represe...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-47123-6
更新日期:2019-07-23 00:00:00
abstract::Natural and anthropogenic stressors can cause phase shifts from coral-dominated to algal-dominated states. In the Caribbean, over-fishing of large herbivorous fish and disease among the long-spined urchin, Diadema, have facilitated algal growth on degraded reefs. We found that diminutive species of urchin and parrotfi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep39670
更新日期:2017-01-05 00:00:00
abstract::Autism spectrum disorder (ASD) is a continuum of neurodevelopmental disorders and needs new therapeutic approaches. Recently, oxytocin (OXT) showed potential as the first anti-ASD drug. Many reports have described the efficacy of intranasal OXT therapy to improve the core symptoms of patients with ASD; however, the un...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-79109-0
更新日期:2020-12-17 00:00:00
abstract::Species of kalanchoe are rich in bioactive compounds and are widely used in folk medicine; however, these plants are not well known from the point of view of aroma. Two species, Kalanchoe pinnata and Kalanchoe daigremontiana, were examined after six months and two years of growth and their vitamin C content, succulenc...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-56359-1
更新日期:2019-12-24 00:00:00
abstract::We summarized published data on the associations of apolipoprotein E (APOE) gene ε2/ε3/ε4 polymorphism with both cancer risk and circulating lipid profiles, aiming to examine the causal relevance between lipids and cancer risk. Article identification and data abstraction were conducted in duplicate and independently b...
journal_title:Scientific reports
pub_type: 杂志文章,meta分析
doi:10.1038/srep09495
更新日期:2015-03-30 00:00:00
abstract::Loss of seed shattering has been regarded as a key step during crop domestication. Mutagenesis contributes to the development of novel crop cultivars with a desired seed-shattering habit in a relatively short period of time, but also to uncovering the genetic architecture of seed shattering. 'Minamiyutaka', a non-shat...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-71972-1
更新日期:2020-09-10 00:00:00
abstract::Research has identified impairments in Theory of Mind (ToM) abilities in depressed patients, particularly in relation to tasks involving empathetic responses and belief reasoning. We aimed to build on this research by exploring the relationship between depressed mood and cognitive ToM, specifically visual perspective-...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-13922-y
更新日期:2017-11-01 00:00:00
abstract::Periodontitis is a multifactorial inflammatory disease that can cause tooth loss and contribute to systemic inflammation. It is suggested that periodontitis may be associated with the development of glaucoma. Based on data from Taiwan's National Health Insurance Research Database, a retrospective cohort study was cond...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-74589-6
更新日期:2020-10-16 00:00:00
abstract::Greenhouse and field studies were conducted to provide a reference for pre-emergence (PRE) application of isoxaflutole on maize in China. In greenhouse study, the isoxaflutole PRE application at 30 g active ingredient (a.i.) ha-1 could effectively control large numbers of weeds, especially some large-seeded broadleave...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-12696-7
更新日期:2017-10-04 00:00:00
abstract::While Brassica oleracea vegetables have been linked to cancer prevention, the exact mechanism remains unknown. Regulation of gene expression by cross-species microRNAs has been previously reported; however, its link to cancer suppression remains unexplored. In this study we address both issues. We confirm plant microR...
journal_title:Scientific reports
pub_type: 杂志文章,收录出版
doi:10.1038/srep32773
更新日期:2016-09-08 00:00:00
abstract::The mitogen-activated protein kinase (MAPK) cascades, which play crucial roles in plant development processes, are universal modules of signal transduction in eukaryotes and consist of a core module of three sequentially phosphorylated kinases: MAPK, MAPK kinase (MAPKK), and MAPKK kinase (MAPKKK). This is the first re...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-17615-4
更新日期:2017-12-18 00:00:00
abstract::Human NAD-dependent isocitrate dehydrogenase (NAD-IDH) catalyzes the oxidative decarboxylation of isocitrate in the citric acid cycle. In the α2βγ heterotetramer of NAD-IDH, the γ subunit plays the regulatory role and the β subunit the structural role. Previous biochemical data have shown that mammalian NAD-IDHs can b...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-21584-7
更新日期:2018-02-16 00:00:00
abstract::Major depression (MDD) has been associated with an altered EEG frontal asymmetry measured in resting state; nevertheless, this association has showed a weak consistency across studies. In the present study, which starts from an evolutionistic view of psychiatric disorders, we investigated frontal asymmetry in MDD, usi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-65168-w
更新日期:2020-05-18 00:00:00
abstract::Glaucoma is a leading cause of irreversible vision loss predicted to affect more than 100 million people by 2040. Intraocular pressure (IOP) reduction prevents development of glaucoma and vision loss from glaucoma. Glaucoma surgeries reduce IOP by facilitating aqueous humor outflow through a vent fashioned from the wa...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-69687-4
更新日期:2020-07-31 00:00:00
abstract::Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene expression profile in cultured skin fibroblasts from GD patients...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-42584-1
更新日期:2019-04-15 00:00:00
abstract::Application of controlled-release urea (CRU) improves crop yield and nitrogen use efficiency (NUE) compared with conventional urea. However, the effectiveness of CRU differs with fertilization placement. A two site-year field experiment was carried out in fluvo-aquic soil in central China to study the effects of two N...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-56912-y
更新日期:2019-12-30 00:00:00
abstract::In this paper, the effects of random errors on the oscillating behaviors have been studied theoretically and numerically in a prototypical coupled nonlinear oscillator. Two kinds of noises have been employed respectively to represent the measurement errors accompanied with the parameter specifying the distance from a ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep42715
更新日期:2017-02-15 00:00:00
abstract::Seeing with two eyes usually helps one respond faster. Here we show that with ambiguous stimuli, binocular viewing can paradoxically slow down reaction time. This is explained by the observers basing their decision on a noisy neuronal representation within the visual system, with the added noise breaking the symmetry ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep16799
更新日期:2015-11-18 00:00:00