Miracle-dz/UniFAR-FTUs huggingface dataset:
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

PURPOSE The purpose of this study was to investigate retinal inosine monophosphate dehydrogenase 1 (IMPDH1) transcripts and proteins to gain an understanding of how mutations in IMPDH1 lead to retinal disease. Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA). IMPDH1 is a highly conserved, widely expressed housekeeping gene, the product of which catalyzes the rate-limiting step of de novo guanine synthesis. Despite its conservation and ubiquity, the clinical consequences of missense mutations in IMPDH1 are limited to the retina, and the disease mechanism is currently unknown. METHODS A variety of methods were used to address the unique features of IMPDH1 in the retina, including Northern blot analysis, serial analysis of gene expression (SAGE), immunohistochemistry, transcript sequencing, and Western blot analysis. RESULTS Results of the experiments showed that IMPDH1 levels are higher in the retina than in any other tissue tested. Specifically, IMPDH1 is found predominately in the inner segment and synaptic terminals of retinal photoreceptors. The predominant transcripts of IMPDH1 in human retina are the result of alternate splicing and alternate start sites of translation. They are significantly different from those in other tissues, and these variant transcripts encode distinct proteins. Further, the proportions of IMPDH1 transcripts and proteins in human retina are different from those in mouse retina. CONCLUSIONS Identification of unique retinal isoforms supports the existence of a novel IMPDH1 function in the retina, one that is probably altered by disease-causing mutations. This alone, or coupled with the high levels of IMPDH1 in the retina, may explain the retina-specific phenotype associated with IMPDH1 mutations. Elucidating the functional properties of these unique, human retinal isoforms is crucial to understanding the pathophysiology of IMPDH1 mutations.
Creation of cellular models for the analysis of sodium-dependent phosphate transporter NaPi2b, a potential marker for ovarian cancer

The aim of present study was to develop a model for a functional analysis of a recently identified marker of the ovarian cancer – sodium-dependent phosphate transporter NaPi2b. For this purpose, we have created HEK293 stable cell lines expressing wild type or mutant forms of NaPi2b (T330V substitution in a large extracellular loop and a 6 amino acid residues deletion in the C-terminal cytoplasmic tail), revealed in the ovarian cancer cell lines. The expression of wild type and mutant forms NaPi2b in the stable cell lines created was confirmed by Western-blot analysis with monoclonal antibodies against NaPi2b. The cellular models described here will be useful for studying the function of sodium-dependent phosphate transporter NaPi2b in health and disease.
An Analysis of the Effects of Residential Photovoltaic Energy Systems on Home Sales Prices in California

LBNL-4476E E RNEST O RLANDO L AWRENCE B ERKELEY N ATIONAL L ABORATORY An Analysis of the Effects of Residential Photovoltaic Energy Systems on Home Sales Prices in California Ben Hoen, Ryan Wiser, Peter Cappers and Mark Thayer Environmental Energy Technologies Division April 2011 Download from http://eetd.lbl. gov/ea/emp/reports/lbnl-4476e.pdf This work was supported by the Office of Energy Efficiency and Renewable Energy (Solar Energy Technologies Program) of the U.S. Department of Energy under Contract No. DE-AC02-05CH11231, by the National Renewable Energy Laboratory under Contract No. DEK-8883050, and by the Clean Energy States Alliance.
A Psychophysical Study of Sensory Saltation With an Open Response Paradigm

As we develop new haptic interfaces, it is desirable to present haptic information in an intuitive and effective manner. The sensory saltation phenomenon is a haptic spatiotemporal illusion that, with the appropriate spatial and timing parameters, evoke a powerful perception of directional lines. Efforts are underway to develop a general-purpose haptic display based on sensory saltation that can find application in many areas including a haptic driving navigation guidance system. The current study is designed to test the hypothesis that saltatory signals can be readily perceived by human observers without training. Using a 3-by-3 tactor array, horizontal, vertical and diagonal saltatory lines are generated. An open response paradigm is used to permit subjects to describe saltatory signals with their own imagination. Results show that the saltatory signals used in this study share unique and consistent interpretations among the group of observers tested. Future work include a follow up study of the same saltatory signals using a standard absolute identification paradigm.
High Availability Based Migration Analysis to Cloud Computing for High Growth Businesses

High availability requirement of the network is becoming essential for high growth disruptive technology companies. For businesses which require migration to networks supporting scalability and high availability, it is important to analyze the various factors and the cost effectiveness for choosing the optimal solution for them. The current work considers this important problem and presents an analysis of the important factors influencing the decision. The high availability of network is discussed using internal and external risk factors of the network. A production network risk matrix is proposed and a scheme to compute the overall risk is presented. A case study is presented in which four possible network configurations are analyzed and the most suitable solution is recognized. This study provides a paradigm and a useful framework for analyzing cloud computing services.
Synthesis of multiple robust controllers for parametric uncertain LTI systems

This paper tackles the problem of designing multiple controllers that optimize the worst-case performance of a linear time invariant system under parametric uncertainty. The parametric uncertainty region is assumed to be convex polytopic, which is also partitioned into a set of convex polytopic local regions. It is desired that all plants that belong to a local region are to be controlled by a single controller, which is designed to give an optimal worst-case performance for that region. The total performance is evaluated as the maximum of worst-case performances for all the local regions. It is minimized with respect to a fixed number of convex polytopic local regions, as well as the same number of controllers. Even though the formulated problem is nonconvex, and thus it is difficult to ensure global optimality, algorithms are provided to update the local regions and the multiple controllers so that they guarantee monotonic non-increasing total performance
Phenotypic Heterogeneity of the Endothelium: II. Representative Vascular Beds

Endothelial cells, which form the inner cellular lining of blood vessels and lymphatics, display remarkable heterogeneity in structure and function. This is the second of a 2-part review on the phenotypic heterogeneity of blood vessel endothelial cells. The first part discusses the scope, the underlying mechanisms, and the diagnostic and therapeutic implications of phenotypic heterogeneity. Here, these principles are applied to an understanding of organ-specific phenotypes in representative vascular beds including arteries and veins, heart, lung, liver, and kidney. The goal is to underscore the importance of site-specific properties of the endothelium in mediating homeostasis and focal vascular pathology, while at the same time emphasizing the value of approaching the endothelium as an integrated system.
Reimagining the Scalar Topologies of Cross-border Governance: Eu(ro)regions in the Post-colonial Present

Much recent writing on the restructuring of the nation-state presupposes a functionalist and unidirectional logic defined by capital-centric 'jumping of scales' and 'spatial fixes'. This is the guiding trope underlying much work on emergent forms of supra- as well as sub-national regional governance within the European Union. In this paper, the author takes issue with such formulations as they apply to Europe's cross-border regions, arguing that their territorial dynamics must be embedded within a larger geo-historical framework which takes into account another period of attempted capital-centred transcendence--namely, European overseas imperialism. Drawing on early 20th-century Marxist theories of imperialism, the author juxtaposes the period of state scale restructuring within the Dutch colonial context in Indonesia with contemporary efforts at cross-border institution-building in the Dutch-German-Belgian euregios. In so doing, he sketches the conditions for new forms of post-scalar, trans-sovereign political agency that may be emerging at the interstices of the European interstate system. European state theory is thereby invited to engage with broader post-colonial debates.
Acute cardiac effects of marathon running.

We sought to clarify the significance of cardiac dysfunction and to assess its relationship with elevated biomarkers by using cardiovascular magnetic resonance imaging in healthy, middle-aged subjects immediately after they ran 26.2 miles. Cardiac dysfunction and elevated blood markers of myocardial injury have been reported after prolonged strenuous exercise. From 425 volunteers, 13 women and 12 men were randomly selected, provided medical and training history, and underwent baseline cardiopulmonary exercise testing to exhaustion. Blood biomarkers, cardiovascular magnetic resonance imaging, and 24-h ambulatory electrocardiography were performed 4 wk before and immediately after the race. Participants were 38.7+/-9.0 yr old, had baseline peak oxygen consumption of 52.9+/-5.6 ml.kg(-1). min(-1), and completed the marathon in 256.2+/-43.5 min. Cardiac troponin I and B-type natriuretic peptide increased following the race (P=0.001 and P<0.0001, respectively). Cardiovascular magnetic resonance-determined pre- and postmarathon left ventricular ejection fractions were comparable, 57.7+/-4.1% and 58.7+/-4.3%, respectively (P=0.32). Right atrial volume index increased from 46.7+/-14.4 to 57.0+/-14.5 ml/m2 (P<0.0001). Similarly, right ventricular end-systolic volume index increased from 47.4+/-11.2 to 57.0+/-14.6 ml/m2 (P<0.0001) whereas the right ventricular ejection fraction dropped from 53.6+/-7.1 to 45.5+/-8.5% (P<0.0001). There were no morphological changes observed in the left atrium or ventricle or evidence of ischemic injury to any chamber by late gadolinium enhancement. There were no significant arrhythmias. Marathon running causes dilation of the right atrium and right ventricle, reduction of right ventricular ejection fraction, and release of cardiac troponin I and B-type natriuretic peptide but does not appear to result in ischemic injury to any chamber.
Sex Differences in Pain Scores and Localization in Inflammatory Arthritis: A Systematic Review and Metaanalysis

Objective. To systematically identify and examine reports of sex-stratified pain measurements in patients with inflammatory arthritis. Methods. Data sources included PubMed (1950 to April 2010), Embase (1980 to April 2010), and manual searches of reference lists and conference abstracts. We included cohort studies and randomized trials comparing pain scores, treatment efficacy at reducing pain, or pain localization, between females and males with inflammatory arthritis [rheumatoid arthritis (RA), ankylosing spondylitis, psoriatic arthritis, and reactive arthritis]. Results. Twenty-six cohorts and 1 randomized trial reported sex-stratified pain scores, and all but 1 cohort identified worse pain scores at enrollment in females. In a metaanalysis of mean visual analog scale (VAS) scores (0 to 10) in 16 RA cohort studies (reporting on 21,612 females and 6871 males), the standardized mean difference in VAS was 0.21 (95% CI 0.16, 0.26). Treatment with disease-modifying therapy results in improvement in mean scores for both sexes; however, female absolute scores remain higher. In 12 spondyloarthropathy cohorts reporting pain localization, females develop more peripheral arthritis during their disease course (68.9% vs 51.2%) but less inflammatory back pain (50.6% vs 66.4%). Conclusion. We identified important sex differences in pain scores in inflammatory arthritis, with higher pain levels in females. In spondyloarthritis, females develop more peripheral arthritis and have less frequent spinal involvement compared to males. These differences may affect a clinician’s perception of disease severity and activity, and thus influence management decisions.
Highly Efficient and Stable Quantum Dot Light Emitting Diodes Optimized by Micro-Packaged Luminescent Microspheres

Colloidal quantum dots (QDs) applied in illuminants and displays have been offered great prospects due to their narrow and tunable emission bands. However, the QD's incompatibility to encapsulant and sensitivities to oxygen and moisture are still limiting their performance in white light emitting diode (WLED). In this research, we have developed a new kind of QDs composites as QDs luminescent microspheres (QLMS). QLMS is a new kind of highly robust QD composite featuring of high efficiency, narrow FWHM and excellent long-term operation stability. QLMS is fully compatible with current LED packaging process and can be used as phosphors for direct On-Chip applications. QLMS provide a promising way for QDs-optimized WLED with high efficiency, color rendering and stability.
CT Findings of Pulmonary Complications after Hematopoietic Stem Cell Transplantation

HSCT: Hematopoietic Stem Cell Transplantation; GVHD: GraftVersus-Host-Disease; DAH: Diffuse Alveolar Hemorrhage; ARDS: Acute Respiratory Distress Syndrome; RSV: Respiratory Syncytial Virus; CMV: Cytomegalovirus; HLA: Human Leucocyte Antigen; PCR: Polymerase Chain Reaction; IPS: Idiopathic Pneumonia Syndrome; OP: Organizing Pneumonia; BOOP: Bronchiolitis Obliterans Organizing Pneumonia; COP: Cryptogenic Organizing Pneumonia; PTLD: Post-Transplant Lymphoproliferative Disorder; EBV: Epstein-Barr Virus; PVOD: Pulmonary VenoOcclusive Disease
Heterogeneity and Breadth of Host Antibody Response to KSHV Infection Demonstrated by Systematic Analysis of the KSHV Proteome

The Kaposi sarcoma associated herpesvirus (KSHV) genome encodes more than 85 open reading frames (ORFs). Serological evaluation of KSHV infection now generally relies on reactivity to just one latent and/or one lytic protein (commonly ORF73 and K8.1). Most of the other polypeptides encoded by the virus have unknown antigenic profiles. We have systematically expressed and purified products from 72 KSHV ORFs in recombinant systems and analyzed seroreactivity in US patients with KSHV-associated malignancies, and US blood donors (low KSHV seroprevalence population). We identified several KSHV proteins (ORF38, ORF61, ORF59 and K5) that elicited significant responses in individuals with KSHV-associated diseases. In these patients, patterns of reactivity were heterogeneous; however, HIV infection appeared to be associated with breadth and intensity of serological responses. Improved antigenic characterization of additional ORFs may increase the sensitivity of serologic assays, lead to more rapid progresses in understanding immune responses to KSHV, and allow for better comprehension of the natural history of KSHV infection. To this end, we have developed a bead-based multiplex assay detecting antibodies to six KSHV antigens.
SUMOylation in Drosophila Development

Small ubiquitin-related modifier (SUMO), an ~90 amino acid ubiquitin-like protein, is highly conserved throughout the eukaryotic domain. Like ubiquitin, SUMO is covalently attached to lysine side chains in a large number of target proteins. In contrast to ubiquitin, SUMO does not have a direct role in targeting proteins for proteasomal degradation. However, like ubiquitin, SUMO does modulate protein function in a variety of other ways. This includes effects on protein conformation, subcellular localization, and protein–protein interactions. Significant insight into the in vivo role of SUMOylation has been provided by studies in Drosophila that combine genetic manipulation, proteomic, and biochemical analysis. Such studies have revealed that the SUMO conjugation pathway regulates a wide variety of critical cellular and developmental processes, including chromatin/chromosome function, eggshell patterning, embryonic pattern formation, metamorphosis, larval and pupal development, neurogenesis, development of the innate immune system, and apoptosis. This review discusses our current understanding of the diverse roles for SUMO in Drosophila development.
Metagenome sequence of Elaphomyces granulatus from sporocarp tissue reveals Ascomycota ectomycorrhizal fingerprints of genome expansion and a Proteobacteria-rich microbiome.

Many obligate symbiotic fungi are difficult to maintain in culture, and there is a growing need for alternative approaches to obtaining tissue and subsequent genomic assemblies from such species. In this study, the genome of Elaphomyces granulatus was sequenced from sporocarp tissue. The genome assembly remains on many contigs, but gene space is estimated to be mostly complete. Phylogenetic analyses revealed that the Elaphomyces lineage is most closely related to Talaromyces and Trichocomaceae s.s. The genome of E. granulatus is reduced in carbohydrate-active enzymes, despite a large expansion in genome size, both of which are consistent with what is seen in Tuber melanosporum, the other sequenced ectomycorrhizal ascomycete. A large number of transposable elements are predicted in the E. granulatus genome, especially Gypsy-like long terminal repeats, and there has also been an expansion in helicases. The metagenome is a complex community dominated by bacteria in Bradyrhizobiaceae, and there is evidence to suggest that the community may be reduced in functional capacity as estimated by KEGG pathways. Through the sequencing of sporocarp tissue, this study has provided insights into Elaphomyces phylogenetics, genomics, metagenomics and the evolution of the ectomycorrhizal association.
Correlates of Bullying and Victimization among Intermediate Students in the Midwestern USA

The primary purpose of the investigation was to examine the relationship between bullying and risk behaviors among 591 fourththrough sixth-grade students in a mid-sized Midwestern (USA) town. More than one-third of respondents reportedly experienced bullying and about one-fifth reported bullying others. Victims tended to worry, dislike themselves and desire to stay home from school (for the sake of physical safety). Bullies were more likely than other students to spend time at home without adult supervision, drink alcohol, smoke or chew tobacco, cheat on tests and bring weapons to school. In addition, bullies' peers pressured them to emit high-risk behaviors such as smoking and drinking. Results were discussed in terms of previous research on bullies and in light of the possible relationship between bullying, antisocial and high-risk behavior.
Designing User interfaces to Minimise Common Errors in Ontology Development: The CO-ODE and HyOntUse Projects

Understanding and using OWL can be difficult. Until recently, the difficulty was made, if anything, greater by user interfaces which were designed more to demonstrate OWL than to fit users requirements. The new interfaces being developed in the Protege-OWL/CO-ODE/HyOntUse projects are based, to a large extent, on experience in tutorials, workshops, and practical development with users. They are designed to avoid the most common errors and pitfalls and make debugging easier and quicker. At the same time, they have proved to streamline many operations so as to make development much faster and easier for experienced ontology engineers.
Endogenous cholesterol synthesis is associated with VLDL-2 apoB-100 production in healthy humans Published, JLR Papers in Press, April 16, 2003. DOI 10.1194/jlr.M300023-JLR200

Subjects with high plasma cholesterol levels exhibit a high production of VLDL apolipoprotein B-100 (apoB-100), suggesting that cholesterol is a mediator for VLDL production. The objective of the study was to examine whether endogenous cholesterol synthesis, reflected by the lathosterol-cholesterol ratio (L-C ratio), affects the secretory rates of different VLDL subfractions. Ten healthy subjects were studied after overnight fasting. During a 10 h primed, constant infusion of 13C-valine (15 μmol/kg/h), enrichment was determined in apoB-100 from ultracentrifugally isolated VLDL-1 and VLDL-2 by gas chromatography mass spectrometry. The synthesis rates of VLDL-1 apoB-100 and VLDL-2 apoB-100, catabolism, and transfer were estimated by compartmental analysis. Mean VLDL-1 apoB-100 pool size was 90 ± 15 mg, and mean VLDL-2 apoB-100 pool size was 111 ± 14 mg. Absolute synthesis rate of VLDL-1 apoB-100 was 649 ± 127 mg/day and 353 ± 59 mg/day for VLDL-2 apoB-100. There was a strong association between the absolute synthesis rate of VLDL-2 apoB-100 and L-C ratio (r 2 = 0.61, P < 0.01). In contrast, no correlation was observed between L-C ratio and absolute synthesis rate of VLDL-1 apoB-100 (r 2 = 0.302, P = 0.09). In conclusion, these data provide additional support for an independent regulation of VLDL-1 apoB-100 and VLDL-2 apoB-100 production. Endogenous cholesterol synthesis is correlated only with the VLDL-2 apoB-100 production.
Molecular identification of the insect adipokinetic hormone receptors

The insect adipokinetic hormones (AKHs) are a large family of peptide hormones that are involved in the mobilization of sugar and lipids from the insect fat body during energy-requiring activities such as flight and locomotion, but that also contribute to hemolymph sugar homeostasis. Here, we have identified the first insect AKH receptors, namely those from the fruitfly Drosophila melanogaster and the silkworm Bombyx mori. These results represent a breakthrough for insect molecular endocrinology, because it will lead to the cloning of all AKH receptors from all model insects used in AKH research, and, therefore, to a better understanding of AKH heterogeneity and actions. Interestingly, the insect AKH receptors are structurally and evolutionarily related to the gonadotropin-releasing hormone receptors from vertebrates.
Re-inventing the Historical in Comparative Education: Reflections on a protean episteme by a contemporary player

It has been said, not in jest, that while the future may be predictable, the past is unpredictable. This essay first constructs yet another, but hopefully different, historical overview of the episteme of comparative education in the USA, the American comparative proteus (after the Greek mythical sea-god who, according to the Oxford English Dictionary , would assume different shapes and appearances 'to avoid answering questions'). The focus of the second section is a comparative view of the British comparative proteus. In both cases, the analysis is focused on the epistemological-cum-methodological orientations of the two 'comparative educations'. It is argued that in the period after the 1960s the two proteuses were metamorphosed from essentially being historical to social scientific. In the third section it is argued that this metamorphosis has impoverished the field, and a call is made for the re-invention of the historical dimension in comparative education. It is further argued that the reclamation of the historical legacy, among other things, would help to humanise comparative education in a cosmos of economic globalisation and instrumental rationality.