3,658 research outputs found
Evaluating Research Impact through Open Access to Scholarly Communication
No full textScientific research is a competitive business – in order to secure funding, promotion and tenure researchers must demonstrate their work has impact in their field. To maximise impact researchers undertake high priority research, aim to get results first, and publish in the highest impact journals. The Internet now presents a new opportunity to the scholarly author seeking higher impact: s/he can now make their work instantly accessible on the Web through author self-archiving. This growing body of open access literature (coupled with new publishing models that make journals available for-free to the reader) maximises research impact by maximising the number of people who can read it, and making it available sooner. Open access also provides a new opportunity for bibliometric research. This thesis describes the relatively recent phenomenon of open access to research literature, tools that were built to collect and analyse that literature, and the results of analyses of the effect of open access and its effect on author behaviour. It shows that articles self-archived by authors receive between 50-250% more citations, that rapid pre-printing on the Web has dramatically reduced the peak citation rate from over a year to virtually instant and how citation-impact – now widely used for evaluation – can be expanded to include a new web metric of download impact
Satellite observations of modulation of surface winds by typhoon-induced upper ocean cooling
No full textsj-pdf-1-jcb-10.1177_0271678X211056393 - Supplemental material for Lower cerebral oxygen utilization is associated with Alzheimer’s disease-related neurodegeneration and poorer cognitive performance among apolipoprotein E ε4 carriers
No full textSupplemental material, sj-pdf-1-jcb-10.1177_0271678X211056393 for Lower cerebral oxygen utilization is associated with Alzheimer’s disease-related neurodegeneration and poorer cognitive performance among apolipoprotein E ε4 carriers by W Hudson Robb, Omair A Khan, Humza A Ahmed, Judy Li, Elizabeth E Moore, Francis E Cambronero, Kimberly R Pechman, Dandan Liu, Katherine A Gifford, Bennett A Landman, Manus J Donahue, Timothy J Hohman and Angela L Jefferson in Journal of Cerebral Blood Flow & Metabolism</p
Warm ocean anomaly, air sea fluxes, and the rapid intensification of tropical cyclone Nargis (2008)
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Using whole exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology
No full textLysosomes are membrane-bound, acidic eukaryotic cellular organelles that play important roles in the degradation of macromolecules. Mutations that cause the loss of lysosomal protein function can lead to a group of disorders categorized as the lysosomal storage diseases (LSDs). Suspicion of LSD is frequently based on clinical and pathologic findings, but in some cases, the underlying genetic and biochemical defects remain unknown. Here, we performed whole exome sequencing (WES) on 14 suspected LSD cases to evaluate the feasibility of using WES for identifying causal mutations. By examining 2,157 candidate genes potentially associated with lysosomal function, we identified eight variants in five genes as candidate disease-causing variants in four individuals. These included both known and novel mutations. Variants were corroborated by targeted sequencing and, when possible, functional assays. In addition, we identified nonsense mutations in two individuals in genes that are not known to have lysosomal function. However, mutations in these genes could have resulted in phenotypes that were diagnosed as LSDs. This study demonstrates that WES can be used to identify causal mutations in suspected LSD cases. We also demonstrate cases where a confounding clinical phenotype may potentially reflect more than one lysosomal protein defect.Peer reviewe
A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome
No full textAbstract This case report presents a notable instance of subcutaneous implantable cardioverter defibrillator (S-ICD) implantation in a 9-year-old patient diagnosed with Timothy syndrome (TS), which is a rare condition characterized by mutations in the CACNA1c gene. Conventional therapies often have limited efficacy in managing TS. This case is significant, as it represents the youngest age for S-ICD implantation recorded in mainland China. While the absence of ventricular arrhythmias during hospitalization and follow-up is encouraging, it is not sufficient to conclusively establish the safety and feasibility of this intervention in young TS patients. Further research is needed to evaluate the long-term outcomes and to consider S-ICD as a potential standard treatment option for TS. Additionally, there is a need for a more detailed exploration of the molecular mechanisms underlying gene therapy and personalized interventions
Layout Geometry in Encoding and Retrieval of Spatial Memory
No full textTwo experiments investigated whether the spatial reference directions that are used to specify objects' locations in memory can be solely determined by layout geometry. Participants Studied a layout of objects from a single viewpoint while their eye movements were recorded. Subsequently, participants used memory to make judgments of relative direction (e.g., "Imagine YOU are standing at X, facing Y, please point to Z"). When the layout had a symmetric axis that was different from participants' viewing direction, the sequence of eye fixations on objects during learning and the preferred directions in pointing judgment, were both determined by the direction of the symmetric axis. These results provide further evidence that interobject spatial relations are represented in memory with intrinsic frames of reference.Two experiments investigated whether the spatial reference directions that are used to specify objects' locations in memory can be solely determined by layout geometry. Participants Studied a layout of objects from a single viewpoint while their eye movements were recorded. Subsequently, participants used memory to make judgments of relative direction (e.g., "Imagine YOU are standing at X, facing Y, please point to Z"). When the layout had a symmetric axis that was different from participants' viewing direction, the sequence of eye fixations on objects during learning and the preferred directions in pointing judgment, were both determined by the direction of the symmetric axis. These results provide further evidence that interobject spatial relations are represented in memory with intrinsic frames of reference
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