bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel OCT4 genetic variant associated with the risk of chronic hepatitis B in a Korean population
Authors: Shin Joong‐Gon , Cheong Hyun Sub , Lee Kwanghyun , Ju Bong‐Gun , Lee Jeong‐Hoon , Yu Su Jong , Yoon Jung‐Hwan , Cheong Jae Youn , Cho Sung Won , Park Neung Hwa , Namgoong Suhg , Kim Lyoung Hyo , Kim Yoon Jun , Shin Hyoung Doo 
Published: September 2016

AbstractBackground & AimsHepatitis B viral infection is a serious risk factor for chronic hepatitis B (CHB), cirrhosis and hepatocellular carcinoma. Recently, several genome‐wide association studies (GWASs) have been conducted to identify important genetic variant associated with the risk of CHB. In our previous GWAS, TCF19 was identified as one of the susceptibility genes for CHB risk (P=4.2×10−9 at rs1419881). In order to discover possible additional causal variants around TCF19, we performed an association study by genotyping single nucleotide polymorphisms (SNPs) in OCT4, a nearby gene to TCF19.MethodsNineteen OCT4 genetic variants were selected and genotyped in 3902 subjects (1046 CHB patients and 2856 population controls).ResultsLogistic regression analysis revealed that OCT4 rs1265163 showed the most significant association signal for the risk of CHB (OR=1.46, P=4.78×10−12). Linkage disequilibrium and conditional analysis confirmed rs1265163 in OCT4 as a novel genetic marker for CHB susceptibility. The genetic risk scores (GRSs) were calculated to visualize the combined genetic effects of all known CHB‐associated loci, including OCT4 rs1265163, which had been identified in this study. Individuals with higher cumulative GRSs showed significantly increased ORs. The luciferase activity of rs885952, a tagging SNP of rs1265163, showed that OCT4 promoter activity was significantly different between the wild‐type and SNP mutant form (P<.05).ConclusionsThis follow‐up study to our previous GWAS identified a possible causal genetic variant associated with the risk of CHB, and findings from this study may prove useful in the understanding of genetic susceptibility to CHB.
Material Connections: “The Smithsonian Effect” in Anthropological Cataloguing
Authors: Greene Candace S. 
Published: September 2016

AbstractMuseum curators led development of the discipline of anthropology in the late nineteenth century, and at the same time developed foundational systems for cataloguing cultural materials. Although entering and accessing catalogue information now relies on keyboards rather than inkwells, the earliest systems continue to influence our understanding of objects. Among the most influential of the early systems was that of the Smithsonian's United States National Museum (USNM), with its first anthropological catalogue entry dating to 1859. Analysis of the material culture of the ubiquitous catalogue books of American museums both before and after the establishment of the USNM system reveals its wide and lasting impact. This system normalized certain fields as essential and disciplined data accordingly, resisting alternate ideas about information offered by donors and by later developments in anthropology. While many museums have now moved through successive generations of information management systems, the effect of early data choices has seldom been examined.
How petals change their spots: cis‐regulatory re‐wiring in Clarkia (Onagraceae)
Authors: Martins Talline R. , Jiang Peng , Rausher Mark D. 
Published: September 2016

Summary

A long‐standing question in evolutionary developmental biology is how new traits evolve. Although most floral pigmentation studies have focused on how pigment intensity and composition diversify, few, if any, have explored how a pattern element can shift position. In the present study, we examine the genetic changes underlying shifts in the position of petal spots in Clarkia.

Comparative transcriptome analyses were used to identify potential candidate genes responsible for spot formation. Co‐segregation analyses in F2 individuals segregating for different spot positions, quantitative PCR, and pyrosequencing, were used to confirm the role of the candidate gene in determining spot position. Transient expression assays were used to identify the expression domain of different alleles.

An R2R3Myb transcription factor (CgMyb1) activated spot formation, and different alleles of CgMyb1 were expressed in different domains, leading to spot formation in different petal locations. Reporter assays revealed that promoters from different alleles determine different locations of expression.

The evolutionary shift in spot position is due to one or more cis‐regulatory changes in the promoter of CgMyb1, indicating that shifts in pattern element position can be caused by changes in a single gene, and that cis‐regulatory rewiring can be used to alter the relative position of an existing character.
Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias
Authors: Whittington Adam , Stein Sarah , Kenner‐Bell Brandi 
Published: September 2016

AbstractAcro‐dermato‐ungual‐lacrimal‐tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long‐term management and follow‐up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome.
Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth
Authors: Jenkins David , McCuaig Catherine , Drolet Beth A. , Siegel Dawn , Adams Susan , Lawson John A. , Wargon Orli 
Published: September 2016

AbstractBackgroundDysregulation of the mammalian target of rapamycin pathway is the underlying pathogenic mechanism in tuberous sclerosis complex (TSC). Other syndromes caused by genetic alterations in this pathway frequently manifest as vascular anomalies or asymmetric overgrowth. Rarely, these features have been documented in TSC.ObjectiveTo collate cases of TSC with vascular anomaly or overgrowth that have been published and to assemble additional recent cases, as this finding has been underreported.MethodsTSC cases from three pediatric dermatology referral centers on two continents were reviewed to identify individuals noted to have hemihypertrophy or vascular anomalies.ResultsWe report five additional cases of TSC associated with vascular anomalies or overgrowth that contribute to our understanding of some of the pathways and treatments involved in vascular anomalies.ConclusionHemihypertrophy and vascular anomalies may be more frequent in the setting of TSC than previously appreciated. A common pathogenetic mechanism may tie these manifestations together.
Acute antibody‐mediated rejection in ABO‐compatible pediatric liver transplant recipients: case series and review of the literature
Authors: Wozniak Laura J. , Naini Bita V. , Hickey Michelle J. , Bhattacharyya Sarathi , Reed Elaine F. , Busuttil Ronald W. , Farmer Douglas G. , Vargas Jorge H. , Venick Robert S. , McDiarmid Sue V. 
Published: September 2016

AbstractAcute AMR is well reported following ABO‐incompatible LTx. However, it remains uncommon in ABO‐compatible LTx. It typically presents with graft dysfunction ≤2 weeks post‐LTx and is often associated with graft loss. We report the clinical presentation, treatment regimen, and outcome of six pediatric LTx recipients diagnosed with early acute AMR based on (i) clinical signs of graft dysfunction, (ii) histopathology indicative of acute injury ± C4d staining, and (iii) presence of HLA DSA. All patients developed elevated ALT and GGT ≤ 45 days post‐LTx. All showed HLA class I (n=4) and/or II (n=6) DSA (peak MFI 6153–11 910). Four had de novo DSA, and two had preformed DSA. Five were initially diagnosed with ACR refractory to steroid therapy. Four exhibited resolution of graft dysfunction with AMR therapy. Two had refractory AMR—one was re‐transplanted; the other was treated with eculizumab and showed improvement in graft function but later died due to a tracheostomy complication. Our case series suggests that AMR following ABO‐compatible LTx may be under‐diagnosed. The presentation can be variable, and treatment should be individualized. Eculizumab may be an option for refractory AMR. Ultimately, future multicenter studies are needed to better define diagnostic criteria, characterize optimal treatment, and assess long‐term outcomes following liver AMR.
‘Fuller's Internal Morality of Law’
Authors: Rundle Kristen 
Published: September 2016

AbstractTeased out through a playful tale about a king who failed in eight ways to make law, Lon L. Fuller's eight principles of the ‘internal morality of law’ became an important contribution to legal philosophy and rule of law theory alike. Moreover, it was Fuller's claim that his principles were not just internal to the enterprise of law, but also ‘moral’ in character, that precipitated a particular kind of ‘natural law versus legal positivism’ contest that continues among legal philosophers today. But as a recent revival of interest in Fuller's thought indicates, his scholarly agenda around the idea of ‘the internal morality of law’ was wider still and deserves revisiting for the range of avenues of inquiry it opens up.
Bayesian D-Optimal Choice Designs for Mixtures
Authors: Ruseckaite Aiste , Goos Peter , Fok Dennis 
Published: September 2016

SummaryConsumer products and services can often be described as mixtures of ingredients. Examples are the mixture of ingredients in a cocktail and the mixture of different components of travel time (e.g. in-vehicle and out-of-vehicle travel time) in a transportation setting. Choice experiments may help to determine how the respondent's choice of a product or service is affected by the combination of ingredients. In such experiments, individuals are confronted with sets of hypothetical products or services and they are asked to choose the most preferred product or service from each set. However, there are no studies on the optimal design of choice experiments involving mixtures. We propose a method for generating optimal designs for such choice experiments and demonstrate the large increase in statistical efficiency that can be obtained by using an optimal design.
Bullying: Definition, Types, Causes, Consequences and Intervention
Authors: Smith Peter K 
Published: September 2016

AbstractBullying is repetitive aggressive behaviour with an imbalance of power. Research, especially on school bullying, has increased massively in the last decade, fuelled in part by the rise of cyberbullying. Prevalence rates vary greatly. This is in part because of measurement issues, but some persons, and groups, are more at risk of involvement. Victims suffer from bullying, but some of those who perpetrate bullying can be socially skilled and get at least short‐term benefits from their behaviour. Individual, family, school class, school and broader country factors can influence the chances of involvement. Beyond individual coping strategies, there have been many anti‐bullying interventions developed over the last 30 years. Meta‐analyses of these programmes show that they have had some success. Further progress is needed in establishing the most effective components and in tackling cyberbullying.
Cyclin‐dependent kinase activity enhances phosphatidylcholine biosynthesis in Arabidopsis by repressing phosphatidic acid phosphohydrolase activity
Authors: Craddock Christian P. , Adams Nicolette , Kroon Johan T.M. , Bryant Fiona M. , Hussey Patrick J. , Kurup Smita , Eastmond Peter J. 
Published: September 2016

SummaryCoordination of endomembrane biogenesis with cell cycle progression is considered to be important in maintaining cell function during growth and development. We previously showed that the disruption of PHOSPHATIDIC ACID PHOSPHOHYDROLASE (PAH) activity in Arabidopsis thaliana stimulates biosynthesis of the major phospholipid phosphatidylcholine (PC) and causes expansion of the endoplasmic reticulum. Here we show that PC biosynthesis is repressed by disruption of the core cell cycle regulator CYCLIN‐DEPENDENT KINASE A;1 (CDKA;1) and that this repression is reliant on PAH. Furthermore, we show that cyclin‐dependent kinases (CDKs) phosphorylate PAH1 at serine 162, which reduces both its activity and membrane association. Expression of a CDK‐insensitive version of PAH1 with a serine 162 to alanine substitution represses PC biosynthesis and also reduces the rate of cell division in early leaf development. Together our findings reveal a physiologically important mechanism that couples the rate of phospholipid biosynthesis and endomembrane biogenesis to cell cycle progression in Arabidopsis.
Overexpression of a flower‐specific aerolysin‐like protein from the dioecious plant Rumex acetosa alters flower development and induces male sterility in transgenic tobacco
Authors: Manzano Susana , Megías Zoraida , Martínez Cecilia , García Alicia , Aguado Encarnación , Chileh Tarik , López‐Alonso Diego , García‐Maroto Federico , Kejnovský Eduard , Široký Jiří , Kubát Zdeněk , Králová Tereza , Vyskot Boris , Jamilena Manuel 
Published: September 2016

SummarySex determination in Rumex acetosa, a dioecious plant with a complex XY1Y2 sex chromosome system (females are XX and males are XY1Y2), is not controlled by an active Y chromosome but depends on the ratio between the number of X chromosomes and autosomes. To gain insight into the molecular mechanisms of sex determination, we generated a subtracted cDNA library enriched in genes specifically or predominantly expressed in female floral buds in early stages of development, when sex determination mechanisms come into play. In the present paper, we report the molecular and functional characterization of FEM32, a gene encoding a protein that shares a common architecture with proteins in different plants, animals, bacteria and fungi of the aerolysin superfamily; many of these function as β pore‐forming toxins. The expression analysis, assessed by northern blot, RT‐PCR and in situ hybridization, demonstrates that this gene is specifically expressed in flowers in both early and late stages of development, although its transcripts accumulate much more in female flowers than in male flowers. The ectopic expression of FEM32 under both the constitutive promoter 35S and the flower‐specific promoter AP3 in transgenic tobacco showed no obvious alteration in vegetative development but was able to alter floral organ growth and pollen fertility. The 35S::FEM32 and AP3::FEM32 transgenic lines showed a reduction in stamen development and pollen viability, as well as a diminution in fruit set, fruit development and seed production. Compared with other floral organs, pistil development was, however, enhanced in plants overexpressing FEM32. According to these effects, it is likely that FEM32 functions in Rumex by arresting stamen and pollen development during female flower development. The aerolysin‐like pore‐forming proteins of eukaryotes are mainly involved in defence mechanisms against bacteria, fungi and insects and are also involved in apoptosis and programmed cell death (PCD), a mechanism that could explain the role of FEM32 in Rumex sex determination.
Structural variability of plant photosystem II megacomplexes in thylakoid membranes
Authors: Nosek Lukáš , Semchonok Dmitry , Boekema Egbert J. , Ilík Petr , Kouřil Roman 
Published: September 2016

SummaryPlant photosystem II (PSII) is organized into large supercomplexes with variable levels of membrane‐bound light‐harvesting proteins (LHCIIs). The largest stable form of the PSII supercomplex involves four LHCII trimers, which are specifically connected to the PSII core dimer via monomeric antenna proteins. The PSII supercomplexes can further interact in the thylakoid membrane, forming PSII megacomplexes. So far, only megacomplexes consisting of two PSII supercomplexes associated in parallel have been observed. Here we show that the forms of PSII megacomplexes can be much more variable. We performed single particle electron microscopy (EM) analysis of PSII megacomplexes isolated from Arabidopsis thaliana using clear‐native polyacrylamide gel electrophoresis. Extensive image analysis of a large data set revealed that besides the known PSII megacomplexes, there are distinct groups of megacomplexes with non‐parallel association of supercomplexes. In some of them, we have found additional LHCII trimers, which appear to stabilize the non‐parallel assemblies. We also performed EM analysis of the PSII supercomplexes on the level of whole grana membranes and successfully identified several types of megacomplexes, including those with non‐parallel supercomplexes, which strongly supports their natural origin. Our data demonstrate a remarkable ability of plant PSII to form various larger assemblies, which may control photochemical usage of absorbed light energy in plants in a changing environment.
Retrospective Evaluation of Hemithyroidectomy in 14 Horses
Authors: Troillet Antonia , Böttcher Denny , Brehm Walter , Scharner Doreen 
Published: September 2016

ObjectiveTo describe the presentation, presurgical diagnostic findings, treatment, and outcome of horses with histologically confirmed, unilateral thyroid neoplasia. The complications, particularly laryngeal hemiplegia, were investigated.Study DesignRetrospective case series.AnimalsClient‐owned horses (n=14).MethodsMedical records of horses presenting with a unilateral thyroid mass due to neoplasia from 2003–2015 were reviewed. Horses must have undergone preoperative clinical evaluations that included ultrasound examination of the mass and upper airway endoscopy. Short‐term follow‐up at 2 weeks after surgery and owner questionnaire for long‐term follow‐up at >6 months were completed.ResultsFourteen horses aged 6–21 years were included. The majority of tumors were adenocarcinomas (11/14), mainly diagnosed in mares (9/14). Intraoperative complications included hemorrhage (1/14) and postoperative complications included seroma formation (4/14). No horse developed postoperative laryngeal hemiplegia. No horses developed clinical signs of metastases or a thyroid disorder long term (mean follow‐up 4.9 years). All owners reported a successful long‐term outcome.ConclusionThe clinical findings of thyroid neoplasia in horses are not associated with the diagnosis of malignancy. Complete surgical resection of the abnormal lobe prevents local recurrence of neoplastic thyroid tissue. The modified hemithyroidectomy technique preserves the function of the recurrent laryngeal nerve.
Comportamientos de autocuidado y adherencia terapéutica en personas con enfermedad coronaria que reciben atención en una institución hospitalaria de Ibagué, Colombia
Authors: Olivella Fernandez Madeleine 
Published: September 2016

<p><strong>PACIENTES CON ENFERMEDAD CORONARIA</strong></p><p><strong>Objetivo:</strong> valorar en forma global los comportamientos de autocuidado y de adherencia terapeutica a los tratamientos en un grupo de personas con enfermedad coronaria en Ibagué, año 2013. <strong>Metodologia:</strong> Estudio descriptivo, transversal, realizado en una Institucion Hospitalaria de Ibagué, Tolima (Colombia). La muestra fue de 55 pacientes con enfermedad coronaria diagnosticada. La información se recogió utilizando el instrumento de adherencia de Bonilla y De-Reales 2006 y la escala europea de autocuidado (ajustada). El análisis estadístico se realizó con el programa SPSS v. 19. <strong>Resultados: </strong>El 3.6% de las personas encuestadas están en riesgo de no adherencia y el 96.4% tienen comportamientos de adherencia. El 7.3% tienen un mejor resultado de autocuidado, el 52.7% tienen un peor resultado de autocuidado y el 40% tienen un moderado resultado de autocuidado. Los resultados de adherencia difieren de los de autocuidado ya que muestran que solo el 3.6 % tiene comportamiento de riesgo de no adherencia y el resto presenta comportamiento de adherencia.. <strong>Conclusiones: </strong>De acuerdo a los resultados de este estudio la adherencia puede entenderse como uno de los componentes del autocuidado en la persona que vive con enfermedad coronaria, un buen resultado de adherencia no garantiza el logro del autocuidado en forma global. La medición de los fenómenos de autocuidado y de adherencia en grupos específicos de pacientes sirve como elemento orientador del cuidado de enfermería. Es necesario realizar estudios similares en poblaciones mayores.</p>
CASE OF INDIGENOUS COMMUNITIES KUNA OF MADUNGANDÍ AND EMBERÁ OF BAYANO AND ITS MEMBERS v. PANAMA
Authors: Sarmiento-Lamus Andrés 
Published: September 2016

<p>La sentencia del 14 de octubre de 2014 en el caso de los Pueblos Indígenas Kuna de Madungandí y Emberá de Bayano y sus miembros vs. Panamá, hace referencia a la responsabilidad internacional por parte de Panamá por, inter alia, la violación continuada del derecho a la propiedad colectiva de las comunidades indígenas, debido a la falta de compensación por el despojo e inundación de sus territorios para la construcción de una hidroeléctrica. En su sentencia, la Corte Interamericana de Derechos Humanos decidió no considerarse competente ratione temporis para analizar el fondo de esta pretensión. Este escrito argumenta que la decisión de la Corte Interamericana de Derechos Humanos fue incorrecta a la luz de la doctrina de las violaciones continuadas, y sostiene que la Corte Interamericana de Derechos Humanos perdió una oportunidad única para establecer el ámbito de su competencia ratione temporis respecto a las expropiaciones y las obligaciones que de estas derivan para los Estados. Por lo tanto, se realiza una valoración y reconocimiento al voto parcialmente disidente del juez Ferrer Mac-Gregor Poisot, como único juez disidente en este aspecto de la decisión. <em> </em> </p> <em> </em>
EL EFECTO ERGA OMNES DE LAS SENTENCIAS DE LA CORTE INTERAMERICANA DE DERECHOS HUMANOS
Authors: Benavides-Casals María Angélica 
Published: September 2016

<p>las fuentes de derecho internacional público (en adelante derecho internacional o DIP) son vinculantes para los estados mediando consentimiento de ellos. En el caso de las principales fuentes del DIP, esto es tratados, costumbre, actos jurídicos unilaterales y principios generales del derecho, es claro el consentimiento necesario para su obligatoriedad. Respecto de las sentencias de tribunales internacionales, y de acuerdo al artículo 59 del estatuto de la Corte Internacional de Justicia (en adelante CIJ), su obligatoriedad es, de acuerdo a texto expreso, vinculante para los estados involucrados en la controversia abordada por el fallo que la resuelve. Lo que se expande a toda la judicatura en el ámbito internacional. En este trabajo de reflexión se analizará la obligatoriedad, es decir, el carácter de fuente del derecho del contenido de las sentencias de la Corte Interamericana de Derechos Humanos (en adelante la Corte o CIDH), para aquellos estados no parte en la controversia: efecto <em>erga omnes</em> de las sentencias de la Corte.</p><p> </p>