Miracle-dz/UniFAR-FTUs huggingface dataset:
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency

Abstract Background: The lecithin:cholesterol acyltransferase (LCAT) gene is located on the long arm of chromosome 16 and encodes a highly conserved enzyme that catalyzes the formation of most plasma lipoprotein cholesteryl esters. Two autosomal recessive disorders, familial LCAT deficiency (FLD) and fish eye disease, are associated with germline LCAT mutations. Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria. Methods: We clinically and biochemically characterized a German patient with classical FLD and used molecular genetic analysis to identify a novel homozygous LCAT mutation within codon 178. Results: The insertion of adenine identified is located in one of the two motifs that resemble sequences found in several lipases, and results in a frameshift with a stop codon at residue 214. Therefore, the mutation alters a large portion of the LCAT enzyme, including both protein regions with putative lipase activity. Clinically, the female patient presented with corneal opacity, mild anemia and a slow deterioration in kidney function that led to a requirement for hemodialysis until she received a renal transplant. Conclusions: The present data provide additional insights into the genotype/phenotype correlations of FLD and thus may improve the genetic diagnosis of this interesting inborn error of metabolism. Clin Chem Lab Med 2007;45:483–6.
Représentations parcimonieuses par un dictionnaire à structure adaptative : application au codage d'images satellitaires

Dans un contexte de codage d'images satellitaires, une structure de dictionnaire adaptative est apprise afin de representer les donnees de facon parcimonieuse tout en optimisant le compromis entre l'erreur d'approximation et le cout de codage. Cette nouvelle structure de dictionnaire, dite en "cerf-volant", s'adapte aux donnees d'apprentissage et peut etre consideree comme une evolution d'une structure en arbre. Une methode de selection des atomes au sein de cette structure, appelee Selection Adaptative des Atomes par Niveau (SAAN), est egalement presentee. Elle permet de selectionner un ou plusieurs atomes par niveau selon un critere de qualite de la representation. Un gain en debit-distorsion est observe pour la structure en "cerf-volant" par rapport aux dictionnaires dits "plats" (K-SVD, DCT) et par rapport a une structure arborescente, dont les niveaux sont de plus en plus vides et donc de moins en moins efficaces.
KRAB zinc finger proteins

Krüppel-associated box domain zinc finger proteins (KRAB-ZFPs) are the largest family of transcriptional regulators in higher vertebrates. Characterized by an N-terminal KRAB domain and a C-terminal array of DNA-binding zinc fingers, they participate, together with their co-factor KAP1 (also known as TRIM28), in repression of sequences derived from transposable elements (TEs). Until recently, KRAB-ZFP/KAP1-mediated repression of TEs was thought to lead to irreversible silencing, and the evolutionary selection of KRAB-ZFPs was considered to be just the host component of an arms race against TEs. However, recent advances indicate that KRAB-ZFPs and their TE targets also partner up to establish species-specific regulatory networks. Here, we provide an overview of the KRAB-ZFP gene family, highlighting how its evolutionary history is linked to that of TEs, and how KRAB-ZFPs influence multiple aspects of development and physiology. Summary: This Primer summarises our current understanding of the intriguing family of KRAB-ZFP transcriptional regulators and its contribution to the control, evolution and co-option of transposable elements.
Mg2+ binding to the active site of EcoRV endonuclease: a crystallographic study of complexes with substrate and product DNA at 2 A resolution.

The type II restriction endonuclease EcoRV was crystallized as a complex with the substrate DNA undecamer AAAGATATCTT (recognition sequence underlined). These crystals diffract to much better resolution (2 A) than was the case for the previously reported complex with the decamer GGGATATCCC [Winkler, F. K. , Banner, D. W. , Oefner, C. , Tsernoglou, D. , Brown, R. S. , Heathman, S. P., Bryan, R. K. , Martin, P. D. , Petratos, K. , & Wilson, K. S. (1993) EMBO J. 12, 1781-1795]. The crystal structure contains one dimer complex in the asymmetric unit and was solved by molecular replacement. The same kinked DNA conformation characteristic for enzyme-bound cognate DNA is observed. Crystals, soaked with Mg2+, show the essential cofactor bound at only one active site of the dimer, and the DNA is not cleaved. The Mg2+ has one oxygen from the scissile phosphodiester group and two carboxylate oxygens, one form Asp74 and one from Asp90, in its octahedral ligand sphere. The scissile phosphodiester group is pulled by 1 A toward the Mg2+. After substrate cleavage in solution, isomorphous crystals containing the enzyme--product--Mg2+ complex were obtained. In this structure, each of the 5'-phosphate groups is bound to two Mg2+. The kinked DNA conformation is essentially maintained, but the two central adenines, 3' to the cleavage sites, form an unusual cross-strand base stacking. The structures have been refined to R factors of 0.16 at 2.1-2.0 A resolution maintaining very good stereochemistry. On the basis of these structures and inspired by recent kinetic data [Vipond, I. B. , & Halford, S. E. (1994) Biochemistry (second paper of three in this issue)], we have constructed a transition state model with two metals bound to the scissile phosphorane group.
Correction: Insight into the Wild Origin, Migration and Domestication History of the Fine Flavour Nacional Theobroma cacao L. Variety from Ecuador

Ecuador's economic history has been closely linked to Theobroma cacao L cultivation, and specifically to the native fine flavour Nacional cocoa variety. The original Nacional cocoa trees are presently in danger of extinction due to foreign germplasm introductions. In a previous work, a few non-introgressed Nacional types were identified as potential founders of the modern Ecuadorian cocoa population, but so far their origin could not be formally identified. In order to determine the putative centre of origin of Nacional and trace its domestication history, we used 80 simple sequence repeat (SSR) markers to analyse the relationships between these potential Nacional founders and 169 wild and cultivated cocoa accessions from South and Central America. The highest genetic similarity was observed between the Nacional pool and some wild genotypes from the southern Amazonian region of Ecuador, sampled along the Yacuambi, Nangaritza and Zamora rivers in Zamora Chinchipe province. This result was confirmed by a parentage analysis. Based on our results and on data about pre-Columbian civilization and Spanish colonization history of Ecuador, we determined, for the first time, the possible centre of origin and migration events of the Nacional variety from the Amazonian area until its arrival in the coastal provinces. As large unexplored forest areas still exist in the southern part of the Ecuadorian Amazonian region, our findings could provide clues as to where precious new genetic resources could be collected, and subsequently used to improve the flavour and disease resistance of modern Ecuadorian cocoa varieties. Copyright: ß 2012 Loor Solorzano et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Agronomique pour le Développement (CIRAD-France). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Residential satisfaction in formal and informal neighborhoods: the case of Istanbul, Turkey

Purpose Residential satisfaction can be viewed as a part of life satisfaction. There are many studies related to the relationship between residents’ satisfaction with their environments and the quality of those environments. The purpose of this paper is to examine how this satisfaction differs according to the type of residential environment. Design/methodology/approach It is based on empirical data on the quality of life in the different residential environments of the Istanbul Metropolitan Area. The primary source of information was a household survey. Findings In an attempt to find solutions to problems with the quality of residential environments, the data were analyzed through several variables related to the subjective perceptions of residential satisfaction. According to the results of the research, residents living in planned neighborhoods in the city are more satisfied than those living in unplanned neighborhoods. The residents who live in the planned sections of the city are satisfied with the attractiveness and accessibility of their neighborhoods, while those who live in unplanned sections of the city are satisfied with their level of attachment to their neighborhoods. Practical implications The study was designed to produce baseline data so that future changes in residential conditions as perceived by the residents of Istanbul could be monitored to support decisions for residential areas. Originality/value Comparative case studies, especially on planned vs unplanned environments, are relatively limited in number. Therefore, there is a need for new researches examining differences between different residential settings within cities. This study adds value to the field of comparative studies on residential environments.
RegA, Iron, and Growth Phase Regulate Expression of the Pseudomonas aeruginosa tol-oprL Gene Cluster

ABSTRACT The tol-oprL region in Pseudomonas aeruginosa appears to be involved in pyocin uptake and required for cell viability. The complete nucleotide sequences of thetolQRA and oprL genes as well as the incomplete sequences of tolB and orf2 have been previously reported. In addition, the sequence of a P. aeruginosairon-regulated gene (pig6) has been described and found to share homology with an open reading frame located upstream of theEscherichia coli tolQRA genes (U. A. Ochsner and M. L. Vasil, Proc. Natl. Acad. Sci. USA 93:4409–4414, 1996). In this study, we cloned the remainder of the P. aeruginosa tol-oprL gene cluster and determined its nucleotide sequence. This cluster was found to consist of seven genes in the orderorf1 tolQ tolR tolA tolB oprL orf2. Transcriptional analysis of this gene cluster was performed by detecting the presence of mRNAs spanning adjacent genes as well as by using a promoterlesslacZ reporter gene fused to each of the seven genes contained in the tol-oprL locus. The results show that there are three major transcriptional units or operons in this region,orf1-tolQRA, tolB, and oprL-orf2, in contrast to the E. coli tol-pal region, where there are only two operons, orf1-tolQRA andtolB-pal-orf2. Analysis of gene expression indicated that the tol-oprL genes of P. aeruginosa are both iron and growth phase modulated. The first operon,orf1-tolQRA, is iron regulated throughout growth, but iron-regulated expression of tolB and oprLfusions occurs only in late log phase. The expression of the three operons was significantly less repressed by iron in furmutants than in the wild-type strain, suggesting the involvement of Fur in the iron regulation of all three operons. RegA is a positive yet nonessential regulator of tol-oprL expression.
Leadership styles in SMEs - a quantitative study of the leadership styles exhibited by managers of SMEs in Sweden through the use of the multifactor leadership questionnaire

Despite the large quantity of studies done on the field of leadership and small and medium sized enterprises (SMEs), current literature lacks the link between these two topics and very little research has actually been done to examine the relationship between leadership styles and management within SMEs operating in Sweden. Taking into account the relevance of this research topic, this thesis aims to recognise and understand leadership styles in SMEs as observed by the employees of the company. In doing so, this thesis further aims to explore which leadership style is the most common amongst managers of SMEs. To achieve this, a quantitative approach was applied in Swedish SMEs. Data were obtained through the use of the Multifactor Leadership Questionnaire (MLQ). Through this study the conclusion was made that transformational leadership was the most displayed leadership style amongst managers as seen by their employees. The topics of the role gender and industry have on leadership are also analysed and the results discussed. The practical implications of findings are also presented. (Less)
Assessment of cold chain and logistics management practices: a cross sectional study in Bundelkhand region of Madhya Pradesh

Background: Immunization is one of the most effective disease prevention strategies. Potency of vaccine is dependent on effective management of cold chain system at all levels of vaccine handling. This study was carried out to assess the status of cold chain equipment and logistics management practices, Knowledge and practice of CCHs about cold chain equipment and logistics management.Methods: Cross-sectional study was conducted in all functional cold chain points of Damoh district using structured questionnaires provided by UNICEF.Results: Only 57.14% and 71% CCPs had dedicated space for dry storage and for conditioning of ice packs respectably. 50% CCPs had correct placement of ice-packs inside DFs. Functional thermometer inside every equipment was available in 86% CCPs. Twice daily temperature recording and temperature of ILRs was within normal range in 93% CCPs. Record of power failures and defrosting/cleaning in temperature log books was found in 57% and 43% CCPs. Temp log book was countersigned by facility in charge in 43% CCPs. UIP vaccines were stored within basket in 93%. Fractional IPV was stock out in 29% CCPs and in 07% CCPs OPV vials were found with not usable VVM. 86%, 72% and 64% of CCHs had knowledge on freeze/temperature sensitive vaccines, cold chain pray and, Shake test. In 79% CCPs expired/wasted vaccines were not documented in stock.Conclusions: Most of the components of cold chain and logistics management practices were satisfactory while there is a gap in other components which needs to be improved.
Morbidity of low birth weight and-or preterm children compared to that of the "mature". I. Methodological considerations and findings for the first 2 years of life.

Medically attended illnesses were investigated in 357 children, representing 100% of all the low birth weight children in a cohort of some 10,000 white, single, liveborn infants; in a random sample of 180 children who weighed more than 2,500 gm at birth after a gestation period of less than 37 weeks; and in a random sample of equal size of children who weighed more than 2,500 gm at birth after a gestation period of more than 37 weeks. The low birth weight and the preterm children did not suffer higher acute disease rates between discharge from the hospital after their birth and their second birthday than did the "mature" children.
NONSTATIONARY BOUNDARY ESTIMATION IN ELECTRICAL IMPEDANCE TOMOGRAPHY BASED ON THE IMM SCHEME

In this paper, an effective nonstationary boundary estimation scheme in EIT is presented based on the interacting multiple model (IMM) algorithm. The inverse problem is treated as a stochastic nonlinear state estimation problem with the time-varying boundary (state) being estimated on-line with the aid of the IMM algorithm. In the design of the IMM algorithm multiple models with different process noise covariances are incorporated to reduce the modeling uncertainty. Simulations are provided to illustrate the proposed algorithm.
Does Technology Spillover and Productivity Growth Connection Exist? Firm Level Evidence from Indian Manufacturing Industry

This paper explores the linkage between technology spillover and productivity for a sample of Indian manufacturing firms over the period 2001-2012. We define technology spillover as the function of R&D (R&D, royalty and technical know-how) and trade (import and export). We consider two measures of productivity, namely total factor productivity (TFP) and labor productivity for analysis. Our results shows that learning-by-importing effect on TFP is not favorable, however firms that are engaged in R&D are observed to be more productive than other in terms of TFP. For labor productivity, our results demonstrate that firms that are engaged in R&D and import are more productive than others. This validates the fact that Indian manufacturing firms represents learning-by-importing phenomenon due to their labor-intensive production processes. Though the overall results are mixed and represents a weak link between export and productivity for TFP, however strong linksare established among productivity, importing & R&D for labor productivity in the context of Indian manufacturing firms.
The Realm of Sociality: Notes on the Design of Social Software

In this article we seek to understand and clarify the contribution of the multifaceted concept of sociality towards the design of social software systems. Our premise is that it is not software as such that is social, but the free choice of people to engage in social activities. Paraphrasing Wenger (1998): sociality cannot be designed; it can only be designed for. We adopt a soft systems approach to cope with the loosely defined concepts of social software. The paper’s main contribution to the field consists of the theoretical work on the sociality based conceptual model, identifying if and to what degree software systems can trigger social behavior, and the design framework that stretches beyond the more traditional functionality-based approaches and focuses on the realms of sociality. We consider this orientation toward sociality, not functionality, a valuable contribution to the field of study.
Determinants Influencing Consumers’ Attitude Towards Online Shopping: An Extension of the Technology Acceptance Model

This research is conducted for investigating determinants influencing consumers’ attitude towards online shopping. The survey was based on 423 Vietnamese Internet users. Data collected was analyzed in accordance with the process from Cronbach's Alpha to EFA and multiple regression technique. The results show that consumers’ attitude towards online shopping was impacted by perceived usefulness, compatibility and trust. Based on the findings, some recommendations are given for retailers to improve customers’ attitude toward online shopping in the context of Vietnam in particular and in emerging countries in general. Keywords: Attitude, Online shopping, Perceived usefulness, Trust.
Dermasence refining gel modulates pathogenetic factors of rosacea in vitro

Over the counter cosmetics sold for local treatment of slight to moderate rosacea often state the claim of actively modulating rosacea pathogenesis. Factors involved in the pathogenesis of this common yet complex skin disorder include kallikrein‐related peptidase 5 (KLK5), LL‐37, as well as protease‐activated receptor 2 (PAR2) and vascular endothelial growth factor (VEGF).
Gastric potential difference in fasted rats: circadian studies.

The pathophysiology of gastroduodenal ulcer disease remains the subject of intense research and controversy. One model of gastric ulcerogenesis implicates a disruption of complementary circadian rhythms between protective and destructive factors. Parallel circadian rhythms have been reported between acid secretion and gastric potential difference (PD) in in vitro models. The purpose of this study was to investigate the circadian measurements of PD, a parameter of intact gastric mucosal function and thus a putative parameter of gastric protection, in intact, fasted, anesthetized rats. Sixty-four male Sprague-Dawley rats were acclimatized in sound-attenuating, lightproof chambers for 3 weeks on a 12:12-h light-dark schedule. Eight rats were fasted 18 h before being sampled at each of eight times on the circadian clock (01:00, 04:00, 07:00, 10:00, 13:00, 16:00, 19:00, and 22:00 hours after lights on) (HALO). In each rat, after anesthesia (ketamine/acepromazine) and laparotomy, the tip of a catheter (pre-filled with KCl agar) was passed into the gastric corpus through the duodenum. The tip of a second KCl-agar catheter was placed within the peritoneal cavity. The position of the intragastric catheter was gently adjusted for obtaining the highest stable PD reading. The data showed significantly higher values at 07:00 and 10:00 HALO. The lowest value was at 13:00 HALO. The difference between high (10:00 HALO) and low (13:00 HALO) values was 4.5 mV or 13% of the mean. This difference was highly significant (p = 0.003) Analysis of variance showed that the values at 07:00 and 10:00 HALO were significantly higher than the values at 01:00, 13:00, and 16:00 HALO. (ABSTRACT TRUNCATED AT 250 WORDS)
Approximation of periodic PDE solutions with anisotropic translation invariant spaces

We approximate the quasi-static equation of linear elasticity in translation invariant spaces on the torus. This unifies different FFT-based discretisation methods into a common framework and extends them to anisotropic lattices. We analyse the connection between the discrete solution spaces and demonstrate the numerical benefits. Finite element methods arise as a special case of periodised Box spline translates.
Evidence for Anti-Inflammatory Effects of Combined Administration of Vitamin E and C in Older Persons with Impaired Fasting Glucose: Impact on Insulin Action

Objective: Vitamin E and C given separately improve insulin sensitivity due to an inhibitory effect on oxidative stress and inflammation, however their combined effect on glucose control and inflammation is unknown. To investigate combined effect of Vitamin E and C in elderly with Impaired Fasting Glucose (IFG) on insulin action and substrate oxidation. Design: Controlled-trial administration of Vitamin E (1000 mg/day) and Vitamin C (1000 UI/day) for four weeks. Hyperinsulinemic euglycemic glucose clamp was performed before and following supplementation. Setting: Out-patient clinic. Participants: Thirteen older men with IFG. Main Outcome Parameters: Variations in whole body glucose disposal (WBGD), anti-oxidant, and inflammatory cytokines plasma levels. Results: An increase in plasma Vitamin E (8.3 + 0.8 vs. 64.9 + 2.1 μmol/l; p < 0.001] and C (35.9 + 5.4 vs. 79.4 + 7.4 μmol/l; p < 0.001) was found. Vitamin administration reduced insulin, glucose, lipid, TNF-α and [8-]isoprostane levels. Increase in plasma vitamin E levels correlated with decline in both plasma [8-]isoprostane levels (r = −0.58; p = 0.048) and TNF-α levels (r = − 0.62; p = 0.025), while no correlations were found for Vitamin C. Whole body glucose disposal (WBGD) (22.7 + 0.6 vs. 30.4 + 0.8 mmol × kg-1 × min-1; p = 0.001) and non-oxidative glucose metabolism rose after supplementation. Rise in plasma levels of Vitamin C and E correlated with WBGD. Multivariate linear regression models showed independent associations among the change in Vitamin E and the decline in TNF-α and [8-]isoprostane levels. Conclusions: Combined administration of Vitamin E and C lowered inflammation and improved insulin action through a rise in non-oxidative glucose metabolism.