101 research outputs found

    Aquaporins in the wild: natural genetic diversity and selective pressure in the PIP gene family in five Neotropical tree species

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    <p>Abstract</p> <p>Background</p> <p>Tropical trees undergo severe stress through seasonal drought and flooding, and the ability of these species to respond may be a major factor in their survival in tropical ecosystems, particularly in relation to global climate change. Aquaporins are involved in the regulation of water flow and have been shown to be involved in drought response; they may therefore play a major adaptive role in these species. We describe genetic diversity in the PIP sub-family of the widespread gene family of Aquaporins in five Neotropical tree species covering four botanical families.</p> <p>Results</p> <p>PIP Aquaporin subfamily genes were isolated, and their DNA sequence polymorphisms characterised in natural populations. Sequence data were analysed with statistical tests of standard neutral equilibrium and demographic scenarios simulated to compare with the observed results. Chloroplast SSRs were also used to test demographic transitions. Most gene fragments are highly polymorphic and display signatures of balancing selection or bottlenecks; chloroplast SSR markers have significant statistics that do not conform to expectations for population bottlenecks. Although not incompatible with a purely demographic scenario, the combination of all tests tends to favour a selective interpretation of extant gene diversity.</p> <p>Conclusions</p> <p>Tropical tree PIP genes may generally undergo balancing selection, which may maintain high levels of genetic diversity at these loci. Genetic variation at PIP genes may represent a response to variable environmental conditions.</p

    Technology-based Product-services for Supporting Frugal Innovation

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    In recent years, European manufacturing companies are gradually applying innovative PSS (Product Service Systems), as strategic opportunity for differentiating from competitors, offering an integrated bundle of products and services, targeted on specific needs of different customers. At the same time, frugal innovation has also surged as a new business concept based upon an intelligent use of resources to fulfill region-dependent customers' needs. Both approaches bring forth rethinking of established business models, which in turn asks for an in-depth analysis of the implications on the company organization and infrastructure, at supply chain and plant levels, urging towards manufacturing networks and reconfigurable assembly lines. This paper presents a formalized framework to support product-service design and the related business model characterization, in the context of frugal innovation. The methodology is applied to three real industrial scenarios respectively in the aeronautics, the domestic appliances and the machinery industry, which are analyzed within the framework of the H2020 European funded project 'ProRegio'

    Patterns within Patterns within the Smart Living Experience

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    Modern technology is increasingly being employed to create a “smart” living experience. These “smart” technology entities are producing copious of amounts data, which in turn rely on increased storage, distribution and computation capacity to manage the data. Depending on the scenario, the diversity of piecemeal solutions almost reflects the diversity of problems they address. But some solutions can be reapplied. In the field of computing, design patterns can provide a general, reusable solution to commonly recurring problems within a given context through software design. This work seeks to determine the core elements of a technology-independent design pattern format and an open software framework can be developed to capture, share and redeploy existing successful and reusable strategies for commonly encountered smart environment use cases. Applying in areas such as assistive technology, energy management and environmental monitoring. The underpinning notion of this paper is to introduce “how, where and why” a rule set based in “design pattern” format could contribute to describe a general “understanding” of given cases in the smart environment domain, as well as allow different processes to collaborate with each other

    Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

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    The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

    A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

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    Heterozygosity for human () dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the promoter. The patients\u27 cells have low basal levels of STAT3 mRNA and protein. The autoinduction of STAT3 production, activation, and function by STAT3-activating cytokines is strongly impaired. Like patients with DN mutations, ZNF341-deficient patients lack T helper 17 (T17) cells, have an excess of T2 cells, and have low memory B cells due to the tight dependence of STAT3 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341 dependence of STAT3 activity in other cell types. Human ZNF341 is essential for the transcription-dependent autoinduction and sustained activity of STAT3

    The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

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    Integrated Design and PLM Applications in Aeronautics Product Development

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    Organised by: Cranfield UniversityWell known challenges in Aeronautic industry, namely reducing time to market, risks and development costs, could be reached thanks to innovative design methods supported by PLM technologies. Such methods are based on integrated design or collaborative engineering enabling close exchanges and cooperation between the project partners. The paper proposes a survey on integrated design methods and PLM technologies. It presents the development of a collaborative design platform, as part of SEINE project, which aims to improve partners’ cooperation in the French aeronautics supply chain. The paper also discusses how to include multiple expertises and integrated design in this collaborative platform.Mori Seiki – The Machine Tool Compan

    THERMAL-DEPENDENCE OF THE CHARACTERISTIC TIME OF A CHEMICAL-REACTION

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