985 resultados para Direct sequencing


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- Purpose This paper aims to investigate how direct mail consumption contributes to brand relationship quality. Store flyers and other direct mailings continue to play a significant role in many companies’ communication strategies. Research on this topic predominantly investigates driving store traffic and sales. Less is known regarding the consumer side, such as the value that consumers may derive from the consumption of direct mailings and the effects of such a value on brand relationship quality. To address this limitation, this paper tests a causal model of the contribution of direct mail value to brand commitment, drawing on a value framework that integrates social theory of engagement regimes and literature on experiential customer value. - Design/methodology/approach The empirical work of this paper is based on a rigorous four-study mixed methods design, involving qualitative study, confirmatory factor analysis and partial least squares structural modeling. - Findings The authors develop two second-order formatively designed scales – familiar value and planned value scales – that illustrate the role of engagement regimes in consumer behavior. Although both types of value contribute equally to direct mail attachment, they exert contrasting effects on other mediational consumer responses, such as reading and gratitude. Finally, the proposed theoretical model appears to be robust in predicting customers’ brand commitment. - Research limitations/implications This study provides new insights into the research on consumer value and brand relational communication. - Originality/value This study is the first to consider consumer benefits from the social perspective of engagement regimes.

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Direct synthesis of unsymmetrical beta-sulfonamido disulfides by ring-opening of aziridines by using benzyltriethyl-ammonium tetrathiomolybdate 1 as a sulfur transfer reagent in the presence of symmetrical disulfides as thiol equivalents has been reported. Reaction of benzyl and alkyl disulfides gave unsymmetrical beta-sulfonamido disulfides as the only product in very good yields. From the Study, it has been observed that aryl disulfides containing p-NO2, p-Cl, and p-CN led to the formation of the corresponding beta-aminosulfides as the exclusive products. However, un-substituted aryl disulfides and the one containing electron-donating substituents (p-Me) provide a mixture of beta-sulfonamido mono- and disulfides as the products.

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We report cloning of the DNA encoding winged bean basic agglutinin (WBA I). Using oligonucleotide primers corresponding to N- and C-termini of the mature lectin, the complete coding sequence for WBA I could be amplified from genomic DNA. DNA sequence determination by the chain termination method revealed the absence of any intervening sequences in the gene. The DNA deduced amino acid sequence of WBA I displayed some differences with its primary structure established previously by chemical means. Comparison of the sequence of WBA I with that of other legume lectins highlighted several interesting features, including the existence of the largest specificity determining loop which might account for its oligosaccharide-binding specificity and the presence of an additional N-glycosylation site. These data also throw some light on the relationship between the primary structure of the protein and its probable mode of dimerization.

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Crack loading and crack extension in pseudoelastic binary NiTi shape memory alloy (SMA) miniature compact tension (CT) specimens with 50.7 at.% Ni (austenitic, pseudoelastic) was investigated using infrared (IR) thermography during in situ loading and unloading. IR thermographic measurements allow for the observation of heat effects associated with the stress-induced transformation of martensite from B2 to BIT during loading and the reverse transformation during unloading. The results are compared with optical images and discussed in terms of the crack growth mechanisms in pseudoelastic NiTi SMAs. Direct experimental evidence is presented which shows that crack growth occurs into a stress-induced martensitic microstructure, which immediately retransforms to austenite in the wake of the crack.

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In the last decade, huge breakthroughs in genetics - driven by new technology and different statistical approaches - have resulted in a plethora of new disease genes identified for both common and rare diseases. Massive parallel sequencing, commonly known as next-generation sequencing, is the latest advance in genetics, and has already facilitated the discovery of the molecular cause of many monogenic disorders. This article describes this new technology and reviews how this approach has been used successfully in patients with skeletal dysplasias. Moreover, this article illustrates how the study of rare diseases can inform understanding and therapeutic developments for common diseases such as osteoporosis. © International Osteoporosis Foundation and National Osteoporosis Foundation 2013.

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Direct regeneration of somatic embryos was obtained from immature zygotic embryos of Dalbergia latifolia. Immature embryos dissected from green pods 90 d after flowering gave the highest frequency of somatic embryo formation. Preculture on high 2,4-D medium for 4 weeks induced direct somatic embryogenesis, which was expressed during the second culture phase in the presence of low 2,4-D along with a high sucrose concentration. Embryos were separated and transferred to the maturation medium containing MS + 0.5-1.0 mg/L BAP, where embryos developed into plantlets. Somatic embryos failed to convert into complete plants without BAP treatment. This method of direct regeneration of somatic embryos without a callus phase has direct application for genetic manipulation studies.

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A direct borohydride fuel cell (DBFC) employing a poly (vinyl alcohol)hydrogel membrane electrolyte (PHME) is reported. The DBFC employs an AB(5) Misch metal alloy as anode and a goldplated stainless steel mesh as cathode in conjunction with aqueous alkaline solution of sodium borohydride as fuel and aqueous acidified solution of hydrogen peroxide as oxidant. Room temperature performances of the PHME-based DBFC in respect of peak power outputs; ex-situ cross-over of oxidant, fuel,anolyte and catholyte across the membrane electrolytes; utilization efficiencies of fuel and oxidant, as also cell performance durability are compared with a similar DBFC employing a NafionA (R)-117 membrane electrolyte (NME). Peak power densities of similar to 30 and similar to 40 mW cm(-2) are observed for the DBFCs with PHME and NME, respectively. The crossover of NaBH4 across both the membranes has been found to be very low. The utilization efficiencies of NaBH4 and H2O2 are found to be similar to 24 and similar to 59%, respectively for the PHME-based DBFC; similar to 18 and similar to 62%, respectively for the NME-based DBFC. The PHME and NME-based DBFCs exhibit operational cell potentials of similar to 1 center dot 2 and similar to 1 center dot 4 V, respectively at a load current density of 10 mA cm(-2) for similar to 100 h.

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The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta = 2 x 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 x 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1(cre/flox) mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low-frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size = +0.41 s.d., Pmeta = 1 x 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.

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Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In addition to EA2, mutations in CACNA1A are responsible for two other allelic disorders: familial hemiplegic migraine type1 (FHM1) and spinocerebellar ataxia type 6 (SCA6). Herein, we have utilised Next Generation Sequencing (NGS) to screen the coding sequence, exon-intron boundaries and UTRs of five genes where mutation is known to produce symptoms related to EA2, including CACNA1A. We performed this screening in a group of 31 unrelated patients with EA2 symptoms. Both novel and known mutations were detected through NGS technology, and confirmed through Sanger sequencing. Genetic testing showed in total 15 mutation bearing patients (48%), of which 9 were novel mutations (6 missense and 3 small frameshift deletion mutations) and six known mutations (4 missense and 2 nonsense).These results demonstrate the efficiency of our NGS-panel for detecting known and novel mutations for EA2 in the CACNA1A gene, also identifying a novel missense mutation in ATP1A2 which is not a normal target for EA2 screening.

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A Pt-Au alloy catalyst of varying compositions is prepared by codeposition of Pt and Au nanoparticles onto a carbon support to evaluate its electrocatalytic activity toward an oxygen reduction reaction (ORR) with methanol tolerance in direct methanol fuel cells. The optimum atomic weight ratio of Pt to Au in the carbon-supported Pt-Au alloy (Pt-Au/C) as established by cell polarization, linear-sweep voltammetry (LSV), and cyclic voltammetry (CV) studies is determined to be 2:1. A direct methanol fuel cell (DMFC) comprising a carbon-supported Pt-Au (2:1) alloy as the cathode catalyst delivers a peak power density of 120 mW/cm2 at 70 °C in contrast to the peak power density value of 80 mW/cm2 delivered by the DMFC with carbon-supported Pt catalyst operating under identical conditions. Density functional theory (DFT) calculations on a small model cluster reflect electron transfer from Pt to Au within the alloy to be responsible for the synergistic promotion of the oxygen-reduction reaction on a Pt-Au electrode.

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A direct borohydride-hydrogen peroxide fuel cell employing carbon-supported Prussian Blue (PB) as mediated electron-transfer cathode catalyst is reported. While operating at 30 °C, the direct borohydride-hydrogen peroxide fuel cell employing carbon-supported PB cathode catalyst shows superior performance with the maximum output power density of 68 mW cm−2 at an operating voltage of 1.1 V compared to direct borohydride-hydrogen peroxide fuel cell employing the conventional gold-based cathode with the maximum output power density of 47 mW cm−2 at an operating voltage of 0.7 V. X-ray diffraction (XRD), Scanning Electron Microscopy (SEM), and Energy Dispersive X-ray Analysis (EDAX) suggest that anchoring of Cetyl-Trimethyl Ammonium Bromide (CTAB) as a surfactant moiety on carbon-supported PB affects the catalyst morphology. Polarization studies on direct borohydride-hydrogen peroxide fuel cell with carbon-supported CTAB-anchored PB cathode exhibit better performance with the maximum output power density of 50 mW cm−2 at an operating voltage of 1 V than the direct borohydride-hydrogen peroxide fuel cell with carbon-supported Prussian Blue without CTAB with the maximum output power density of 29 mW cm−2 at an operating voltage of 1 V.

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End-tethered chains made of an adsorbed diblock copolymer of polystyrene (PS)-polyisoprene (PI) bearing an end-segment including a Ge atom are built by the Langmuir-Schaeffer technique. They are studied both in the dry state and in a good solvent for the PI chain using grazing incidence X-ray standing waves. The analysis of the signal provides a direct measurement of the end-segment distribution which is found to be singular and mostly localized to a plane in the dry case. In the good solvent case, end-segments are found to span the entire assembly and compare very well with results obtained by Kreer et al.

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A method for determining the electron/hole transport length scale of model semiconducting polymer systems by scanning a narrow-light probe beam over the nonoverlapping anode/cathode region in asymmetric sandwich device structures is presented (see figure). Electron versus hole collection efficacy, and disorder and spatial anisotropy in the electrical transport parameters can be estimated.

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Thrombophilia (TF) predisposes both to venous and arterial thrombosis at a young age. TF may also impact the thrombosis or stenosis of hemodialysis (HD) vascular access in patients with end-stage renal disease (ESRD). When involved in severe thrombosis TF may associate with inappropriate response to anticoagulation. Lepirudin, a potent direct thrombin inhibitor (DTI), indicated for heparin-induced thrombocytopenia-related thrombosis, could offer a treatment alternative in TF. Monitoring of narrow-ranged lepirudin demands new insights also in laboratory. The above issues constitute the targets in this thesis. We evaluated the prevalence of TF in patients with ESRD and its impact upon thrombosis- or stenosis-free survival of the vascular access. Altogether 237 ESRD patients were prospectively screened for TF and thrombogenic risk factors prior to HD access surgery in 2002-2004 (mean follow-up of 3.6 years). TF was evident in 43 (18%) of the ESRD patients, more often in males (23 vs. 9%, p=0.009). Known gene mutations of FV Leiden and FII G20210A occurred in 4%. Vascular access sufficiently matured in 226 (95%). The 1-year thrombosis- and stenosis-free access survival was 72%. Female gender (hazards ratio, HR, 2.5; 95% CI 1.6-3.9) and TF (HR 1.9, 95% CI 1.1-3.3) were independent risk factors for the shortened thrombosis- and stenosis-free survival. Additionally, TF or thrombogenic background was found in relatively young patients having severe thrombosis either in hepatic veins (Budd-Chiari syndrome, BCS, one patient) or inoperable critical limb ischemia (CLI, six patients). Lepirudin was evaluated in an off-label setting in the severe thrombosis after inefficacious traditional anticoagulation without other treatment options except severe invasive procedures, such as lower extremity amputation. Lepirudin treatments were repeatedly monitored clinically and with laboratory assessments (e.g. activated partial thromboplastin time, APTT). Our preliminary studies with lepirudin in thrombotic calamities appeared safe, and no bleeds occurred. An effective DTI lepirudin calmed thrombosis as all patients gradually recovered. Only one limb amputation was performed 3 years later during the follow-up (mean 4 years). Furthermore, we aimed to overcome the limitations of APTT and confounding effects of warfarin (INR of 1.5-3.9) and lupus anticoagulant (LA). Lepirudin responses were assessed in vitro by five specific laboratory methods. Ecarin chromogenic assay (ECA) or anti-Factor IIa (anti-FIIa) correlated precisely (r=0.99) with each other and with spiked lepirudin in all plasma pools: normal, warfarin, and LA-containing plasma. In contrast, in the presence of warfarin and LA both APTT and prothrombinase-induced clotting time (PiCT®) were limited by non-linear and imprecise dose responses. As a global coagulation test APTT is useful in parallel to the precise chromogenic methods ECA or Anti-FIIa in challenging clinical situations. Lepirudin treatment requires multidisciplinary approach to ensure appropriate patient selection, interpretation of laboratory monitoring, and treatment safety. TF seemed to be associated with complicated thrombotic events, in venous (BCS), arterial (CLI), and vascular access systems. TF screening should be aimed to patients with repeated access complications or prior unprovoked thromboembolic events. Lepirudin inhibits free and clot-bound thrombin which heparin fails to inhibit. Lepirudin seems to offer a potent and safe option for treatment of severe thrombosis. Multi-centered randomized trials are necessary to assess the possible management of complicated thrombotic events with DTIs like lepirudin and seek prevention options against access complications.