281 resultados para gene library


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The article focuses on the evidence-based information practice (EBIP) applied at the Auraria Library in Denver, Colorado during the reorganization of its technical services division. Collaboration processes were established for the technical services division through the reorganization and redefinition of workflows. There are several factors that form part of the redefinition of roles including personal interests, department needs, and library needs. A collaborative EBIP environment was created in the division by addressing issues of workplace hierarchies, by the distribution of problem solving, and by the encouragement of reflective dialogue.

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According to Australian Job Search, just 14% of librarians are under the age of 35. As a Generation Y librarian, flexibility is a key factor to ensuring survival in the Baby Boomer library and overcoming employment, promotion and in particular stereotype barriers. This paper draws upon generational and library workforce research, coupled with industry experience to provide practical advice and strategies to break through both personal and professional barriers for the Generation Y librarian in the Baby Boomer library world. Industry understanding, drawn from personal experiences of working in public, education and special libraries, utilises my journey as a librarian since graduation in 2005 to discuss barriers faced and methods for breaking through. In my previous position as Teaching and Learning Librarian at Northern Melbourne Institute of TAFE from 35 library staff I was the sole member under 30. In addition I was the youngest member of the Library Management Team by 20 years, providing a perfect example of the Generation Y librarian within a Baby Boomer environment. This experience provides the platform for exploring strategies for understanding and overcoming ageist ideas, generational stereotypes, and employment barriers. Discussion regarding the need to develop sound industry knowledge for survival within the library world will also be raised.

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Learning is most effective when intrinsically motivated through personal interest, and situated in a supportive socio-cultural context. This paper reports on findings from a study that explored implications for design of interactive learning environments through 18 months of ethnographic observations of people’s interactions at “Hack The Evening” (HTE). HTE is a meetup group initiated at the State Library of Queensland in Brisbane, Australia, and dedicated to provide visitors with opportunities for connected learning in relation to hacking, making and do-it-yourself technology. The results provide insights into factors that contributed to HTE as a social, interactive and participatory environment for learning – knowledge is created and co-created through uncoordinated interactions among participants that come from a diversity of backgrounds, skills and areas of expertise. The insights also reveal challenges and barriers that the HTE group faced in regards to connected learning. Four dimensions of design opportunities are presented to overcome those challenges and barriers towards improving connected learning in library buildings and other free-choice learning environments that seek to embody a more interactive and participatory culture among their users. The insights are relevant for librarians as well as designers, managers and decision makers of other interactive and free-choice learning environments.

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Currently, mass spectrometry-based metabolomics studies extend beyond conventional chemical categorization and metabolic phenotype analysis to understanding gene function in various biological contexts (e.g., mammalian, plant, and microbial). These novel utilities have led to many innovative discoveries in the following areas: disease pathogenesis, therapeutic pathway or target identification, the biochemistry of animal and plant physiological and pathological activities in response to diverse stimuli, and molecular signatures of host-pathogen interactions during microbial infection. In this review, we critically evaluate the representative applications of mass spectrometry-based metabolomics to better understand gene function in diverse biological contexts, with special emphasis on working principles, study protocols, and possible future development of this technique. Collectively, this review raises awareness within the biomedical community of the scientific value and applicability of mass spectrometry-based metabolomics strategies to better understand gene function, thus advancing this application's utility in a broad range of biological fields

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This paper presents research findings and design strategies that illustrate how digital technology can be applied as a tool for hybrid placemaking in ways that would not be possible in purely digital or physical space. Digital technology has revolutionised the way people learn and gather new information. This trend has challenged the role of the library as a physical place, as well as the interplay of digital and physical aspects of the library. The paper provides an overview of how the penetration of digital technology into everyday life has affected the library as a place, both as designed by place makers, and, as perceived by library users. It then identifies a gap in current library research about the use of digital technology as a tool for placemaking, and reports results from a study of Gelatine – a custom built user check-in system that displays real-time user information on a set of public screens. Gelatine and its evaluation at The Edge, at State Library of Queensland illustrates how combining affordances of social, spatial and digital space can improve the connected learning experience among on-site visitors. Future design strategies involving gamifying the user experience in libraries are described based on Gelatine’s infrastructure. The presented design ideas and concepts are relevant for managers and designers of libraries as well as other informal, social learning environments.

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The concept of Library 2.0 with its participatory and user-centred focus increasingly has been incorporated in library practice around the world. However, research on this topic is either limited or non-existent in developing countries which are often restricted by tight budgets and varying levels of technological infrastructure. This poster presents the findings of an ongoing pilot project which investigates Library 2.0 in the specific cultural context of Indonesia as well as strengthens the general evidence base in this research area. Data was collected through an online survey with library and information (LIS) professionals from across the information sector in Indonesia. Quantitative and qualitative methods were used to explore their understanding of the concept of Library 2.0. The preliminary data collected from this study will be used to inform a more complex future research project. As well, findings are intended to aid in LIS curriculum development in Indonesia to support the education of LIS students.

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Queensland University of Technology (QUT) Library offers a range of resources and services to researchers as part of their research support portfolio. This poster will present key features of two of the data management services offered by research support staff at QUT Library. The first service is QUT Research Data Finder (RDF), a product of the Australian National Data Service (ANDS) funded Metadata Stores project. RDF is a data registry (metadata repository) that aims to publicise datasets that are research outputs arising from completed QUT research projects. The second is a software and code registry, which is currently under development with the sole purpose of improving discovery of source code and software as QUT research outputs. RESEARCH DATA FINDER As an integrated metadata repository, Research Data Finder aligns with institutional sources of truth, such as QUT’s research administration system, ResearchMaster, as well as QUT’s Academic Profiles system to provide high quality data descriptions that increase awareness of, and access to, shareable research data. The repository and its workflows are designed to foster better data management practices, enhance opportunities for collaboration and research, promote cross-disciplinary research and maximise the impact of existing research data sets. SOFTWARE AND CODE REGISTRY The QUT Library software and code registry project stems from concerns amongst researchers with regards to development activities, storage, accessibility, discoverability and impact, sharing, copyright and IP ownership of software and code. As a result, the Library is developing a registry for code and software research outputs, which will use existing Research Data Finder architecture. The underpinning software for both registries is VIVO, open source software developed by Cornell University. The registry will use the Research Data Finder service instance of VIVO and will include a searchable interface, links to code/software locations and metadata feeds to Research Data Australia. Key benefits of the project include:improving the discoverability and reuse of QUT researchers’ code and software amongst QUT and the QUT research community; increasing the profile of QUT research outputs on a national level by providing a metadata feed to Research Data Australia, and; improving the metrics for access and reuse of code and software in the repository.

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A course-integrated programme of library instruction has been developed for the School of Civil Engineering at the Queensland University of Technology, Australia; library instruction being one of the means selected to improve the research efforts of fourth year project students. The programme has been developed through consultation between the Civil Engineering Research Project Coordinator and the Civil Engineering Reference Librarian. Its aims are derived from those established for the fourth year research projects. Attention is focussed on the nature of the programme and the impact of instruction on fourth year research project students. Students who had received extended library instruction were compared with students from the previous year. Evidence suggests that the instruction has improved the information seeking behaviour of the students and their literature reviews.

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An influenza virus-inspired polymer mimic nanocarrier was used to deliver siRNA for specific and near complete gene knockdown of an osteoscarcom cell line (U-2SO). The polymer was synthesized by single-electron transfer living radical polymerization (SET-LRP) at room temperature to avoid complexities of transfer to monomer or polymer. It was the only LRP method that allowed good block copolymer formation with a narrow molecular weight distribution. At nitrogen to phosphorus (N/P) ratios of equal to or greater than 20 (greater than a polymer concentration of 13.8 μg/mL) with polo-like kinase 1 (PLK1) siRNA gave specific and near complete (>98%) cell death. The polymer further degrades to a benign polymer that showed no toxicity even at polymer concentrations of 200 μg/mL (or N/P ratio of 300), suggesting that our polymer nanocarrier can be used as a very effective siRNA delivery system and in a multiple dose administration. This work demonstrates that with a well-designed delivery device, siRNA can specifically kill cells without the inclusion of an additional clinically used highly toxic cochemotherapeutic agent. Our work also showed that this excellent delivery is sensitive for the study of off-target knockdown of siRNA.

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Migraine is a common neurological disorder characterised by temporary disabling attacks of severe head pain and associated disturbances. There is significant evidence to suggest a genetic aetiology to the disease however few causal mutations have been conclusively linked to the migraine subtypes Migraine with (MA) or without Aura (MO). The Potassium Channel, Subfamily K, member 18 (KCNK18) gene, coding the potassium channel TRESK, is the first gene in which a rare mutation resulting in a non-functional truncated protein has been identified and causally linked to MA in a multigenerational family. In this study, three common polymorphisms in the KCNK18 gene were analysed for genetic variation in an Australian case-control migraine population consisting of 340 migraine cases and 345 controls. No association was observed for the polymorphisms examined with the migraine phenotype or with any haplotypes across the gene. Therefore even though the KCNK18 gene is the only gene to be causally linked to MA our studies indicate that common genetic variation in the gene is not a contributor to MA.

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BACKGROUND: The excitatory neurotransmitter glutamate has been implicated in both the hyperexcitability required for cortical spreading depression as well as activation of the trigeminovascular system required for the allodynia associated with migraine. Polymorphisms in the glutamate receptor ionotropic amino-3-hydroxy-5-methyl-4-isoxazole-propionin acid 1 (GRIA1) and GRIA3 genes that code for 2 of 4 subunits of the glutamate receptor have been previously associated with migraine in an Italian population. In addition, the GRIA3 gene is coded within a previously identified migraine susceptibility locus at Xq24. This study investigated the previously associated polymorphisms in both genes in an Australian case-control population. METHODS: Variants in GRIA1 and GRIA3 were genotyped in 472 unrelated migraine cases and matched controls, and data were analyzed for association. RESULTS: Analysis showed no association between migraine and the GRIA1 gene. However, association was observed with the GRIA3 single nucleotide polymorphism (SNP) rs3761555 (P = .008). CONCLUSION: The results of this study confirmed the previous report of association at the rs3761555 SNP within the migraine with aura subgroup of migraineurs. However, the study identified association with the inverse allele suggesting that rs3761555 may not be the causative SNP but is more likely in linkage disequilibrium with another causal variant in both populations. This study supports the plethora of evidence suggesting that glutamate dysfunction may contribute to migraine susceptibility, warranting further investigation of the glutamatergic system and particularly of the GRIA3 gene.

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Migraine is a common neurovascular brain disorder characterised by recurrent attacks of severe headache that may be accompanied by various neurological symptoms. Migraine is thought to result from activation of the trigeminovascular system followed by vasodilation of pain-producing intracranial blood vessels and activation of second-order sensory neurons in the trigeminal nucleus caudalis. Calcitonin gene-related peptide (CGRP) is a mediator of neurogenic inflammation and the most powerful vasodilating neuropeptide, and has been implicated in migraine pathophysiology. Consequently, genes involved in CGRP synthesis or CGRP receptor genes may play a role in migraine and/or increase susceptibility. This study investigates whether variants in the gene that encodes CGRP, calcitonin-related polypeptide alpha (CALCA) or in the gene that encodes a component of its receptor, receptor activity modifying protein 1 (RAMP1), are associated with migraine pathogenesis and susceptibility. The single nucleotide polymorphisms (SNPs) rs3781719 and rs145837941 in the CALCA gene, and rs3754701 and rs7590387 at the RAMP1 locus, were analysed in an Australian Caucasian population of migraineurs and matched controls. Although we find no significant association of any of the SNPs tested with migraine overall, we detected a nominally significant association (p = 0.031) of the RAMP1 rs3754701 variant in male migraine subjects, although this is non-significant after Bonferroni correction for multiple testing.

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We employed a Hidden-Markov-Model (HMM) algorithm in loss of heterozygosity (LOH) analysis of high-density single nucleotide polymorphism (SNP) array data from Non-Hodgkin’s lymphoma (NHL) entities, follicular lymphoma (FL), and diffuse large B-cell lymphoma (DLBCL). This revealed a high frequency of LOH over the chromosomal region 11p11.2, containing the gene encoding the protein tyrosine phosphatase receptor type J (PTPRJ). Although PTPRJ regulates components of key survival pathways in B-cells (i.e., BCR, MAPK, and PI3K signaling), its role in B-cell development is poorly understood. LOH of PTPRJ has been described in several types of cancer but not in any hematological malignancy. Interestingly, FL cases with LOH exhibited down-regulation of PTPRJ, in contrast no significant variation of expression was shown in DLBCLs. In addition, sequence screening in Exons 5 and 13 of PTPRJ identified the G973A (rs2270993), T1054C (rs2270992), A1182C (rs1566734), and G2971C (rs4752904) coding SNPs (cSNPs). The A1182 allele was significantly more frequent in FLs and in NHLs with LOH. Significant over-representation of the C1054 (rs2270992) and the C2971 (rs4752904) alleles were also observed in LOH cases. A haplotype analysis also revealed a significant lower frequency of haplotype GTCG in NHL cases, but it was only detected in cases with retention. Conversely, haplotype GCAC was over-representated in cases with LOH. Altogether, these results indicate that the inactivation of PTPRJ may be a common lymphomagenic mechanism in these NHL subtypes and that haplotypes in PTPRJ gene may play a role in susceptibility to NHL, by affecting activation of PTPRJ in these B-cell lymphomas.

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Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2). This study involves a large, unique, multigenerational Australian pedigree in which FSGS co-segregates with progressive heart block with apparent X-linked recessive inheritance. Through a classical combined approach of linkage and haplotype analysis, we identified a 21.19 cM interval implicated on the X chromosome. We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval. The two mutations NXF5-R113W and ALG13-T141L segregated perfectly with the disease phenotype in the pedigree and were not found in a large healthy control cohort. Analysis using bioinformatics tools predicted the R113W mutation in the NXF5 gene to be deleterious and cellular studies support a role in the stability and localization of the protein suggesting a causative role of this mutation in these co-morbid disorders. Further studies are now required to determine the functional consequence of these novel mutations to development of FSGS and heart block in this pedigree and to determine whether these mutations have implications for more common forms of these diseases in the general population.

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Migraine is a common and debilitating neurovascular disorder with a complex envirogenomic aetiology. Numerous studies have demonstrated a preponderance of women affected with migraine and previous pedigree linkage studies in our laboratory have identified susceptibility loci on chromosome Xq24-Xq28. In this study we have used the genetic isolate of Norfolk Island to further analyse the X chromosome for migraine susceptibility loci. An association approach was employed to analyse 14,124 SNPs spanning the entire X chromosome. Genotype data from 288 individuals comprising a large core-pedigree, of which 76 were affected with migraine, were analysed. Although no SNP reached chromosome-wide significance (empirical α = 1×10−5) ranking by P-value revealed two primary clusters of SNPs in the top 25. A 10 SNP cluster represents a novel migraine susceptibility locus at Xq12 whilst a 11 SNP cluster represents a previously identified migraine susceptibility locus at Xq27. The strongest association at Xq12 was seen for rs599958 (OR = 1.75, P = 8.92×10−4), whilst at Xq27 the strongest association was for rs6525667 (OR = 1.53, P = 1.65×10−4). Further analysis of SNPs at these loci was performed in 5,122 migraineurs from the Women’s Genome Health Study and provided additional evidence for association at the novel Xq12 locus (P<0.05). Overall, this study provides evidence for a novel migraine susceptibility locus on Xq12. The strongest effect SNP (rs102834, joint P = 1.63×10−5) is located within the 5′UTR of the HEPH gene, which is involved in iron homeostasis in the brain and may represent a novel pathway for involvement in migraine pathogenesis.