bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosome 15
Authors: Farra Chantal , Morton Cynthia C 
Published: March 2017

Abstract

Human chromosome 15 is an acrocentric chromosome that represents approximately 3% of the genetic material in the human genome. Although it remains comparatively gene‐poor, chromosome 15 contains a ribosomal ribonucleic acid (rRNA) gene cluster and a number of imprinted genes. Over 900 genes were mapped to chromosome 15, some of which have been traced to various diseases including Prader–Willi syndrome (PWS), Angelman syndrome (AS) and many others. Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births. Robertsonian translocations that are involved with chromosome 15 represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS, which are disorders manifesting neurological, developmenmtal and behavioural phenotypes. A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia.

Key Concepts

Human chromosome 15 is an acrocentric estimated to contain approximately 3% of the genetic material of the entire human genome.

Chromosome 15 shares substantial sequence similarities in the short arm that encode the tandemly repeated ribosomal ribonucleic acid genes and a series of other tandemly repeated sequence arrays.

Chromosome 15 has, due to the localisation in 15q11–q13 of Prader–Willi syndrome (PWS) and Angelman syndrome (AS), has illuminated the role of genomic imprinting in gene expression.

The physical size of chromosome 15 has been estimated at 107 Mb with 15p at 17 Mb and 15q at 89 Mb. The euchromatic region of this chromosome has been entirely sequenced, and contains 11 contigs.

A total of 301 Yeast artificial chromosomes, 306 bacterial artificial chromosomes, and 6493 sequence‐tagged sites have been identified on chromosome 15.

The genetic map length for chromosome 15 is 137 cM in the human female and 99 cM in the human male.

Over 900 genes were mapped to chromosome 15, some of which have been traced to the following diseases: Andermann syndrome, AS, Bardet–Biedl syndrome type 4, Bloom syndrome, cardiomyopathy, hepatic lipase deficiency, limb girdle muscular dystrophy, Marfan syndrome, oculocutaneous albinism type 2, PWS, spastic paraplegia type 6 and Tay–Sachs disease.

Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births.

Robertsonian translocations represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS when chromosome 15 is involved.

A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, notably among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia.
Senescence in Plants
Authors: McCabe Paul 
Published: March 2017

Abstract

Plant senescence is the final stage of development during which the plant recycles the valuable cellular building blocks that have been deposited in the leaves and other parts of the plant during growth. These reusable nutrients are then stored in the plant until they can be used in new growth or sent to the seed to provide a nutrient store for the next generation. Maintaining an efficient senescence process is therefore essential for the fitness of the plant or its seed. Senescence is a complex, highly regulated process that requires new gene expression and involves the interactions of many signalling pathways. In crops inappropriately timed senescence can reduce final crop yield, and in many vegetable crops significant postharvest loss is due to senescence. Unravelling the regulatory mechanisms that underlie senescence may have significant impact on increasing future food production.

Key Concepts

Plant senescence is a recycling process.

Senescence confers an adaptive advantage to a plant increasing its fitness or reproductive success.

Initiating senescence triggers a regulated series of events that dismantle, degrade and then mobilise valuable cellular processes.

The majority of a leaf protein and lipid component is in the chloroplast and it undergoes dramatic structural changes during senescence.

Chlorophyll needs to be rapidly degraded during senescence to ensure cells do not die due to phototoxicity.

Proteins degraded during senescence release valuable nitrogen and other minerals for mobilisation.

Thousands of genes are involved in the regulation of senescence.

Most of the major plant hormones have roles in the regulation of senescence.
Disorders of Cholesterol Biosynthesis, Genetics of
Authors: Kanungo Shibani , Steiner Robert D 
Published: March 2017

Abstract

Smith–Lemli–Opitz syndrome (SLOS) is the most common and best understood of the inborn errors of cholesterol metabolism. Comprising a heterogeneous group of disorders, inborn errors in cholesterol biosynthesis result in characteristic but variable phenotypes. SLOS is an inherited disorder caused by mutations in
DHCR7
which encodes the final enzyme in the cholesterol synthetic pathway. There are eight other cholesterol biosynthesis disorders described in the pre‐Squalene and post‐Squalene pathways. Phenotypic features of SLOS and the other eight disorders are thought to be related to cholesterol deficiency and/or accumulation of cholesterol precursors and their metabolites. A better understanding of SLOS and these other inborn errors of cholesterol biosynthesis may shed light on the importance of cholesterol biosynthesis in embryo‐ and morphogenesis as well as provide clues to treatment.

Key Concepts

Developing brain tissue is dependent on endogenous cholesterol biosynthesis.

Cholesterol is a fundamental component of cell membranes and myelin, a precursor of bile acids, Vitamin D and steroid hormones synthesis and is crucial in cellular signalling.

Cholesterol influences embryonic and postnatal development.

Cholesterol can play a role in autism and socio‐behavioural problems.

Inborn errors of cholesterol metabolism are a heterogeneous group of at least nine disorders, with more likely to be identified.
Autophagy
Authors: Simon Hans‐Uwe , Friis Robert , Colombo María I 
Published: March 2017

Abstract

Autophagy comprises several evolutionarily conserved mechanisms for uptake and transport of proteins and even cytoplasmic organelles to the lysosome for degradation. Although the importance of autophagy for cell homeostasis and survival has long been appreciated, our understanding of how autophagy is carried out at the molecular level has recently benefited from genetic studies that have revealed the functions of many of the participating proteins. The importance of autophagy for maintaining quality control on proteins and organelles is underscored by the fact that many diseases exhibit dysfunctional autophagic activities, for example neurodegenerative diseases. When cells undergoing stress leading to deoxyribonucleic acid damage, mitochondrial damage, and/or accumulation of damaged proteins are unable to induce a sufficient autophagic response, genetic instability ensues and such cells are prone to accumulate oncogenic mutations. Thus, autophagy is required for multiple roles in the prevention of human disease.

Key Concepts

Though a basal or constitutive level of autophagy is present in almost all cell types all the time for elimination of damaged proteins and even dysfunctional organelles, for example, mitochondria, autophagy can be strongly induced to compensate for nutritional imbalances or in response to stresses such as DNA damage.

Autophagy is carried out by a set of more than 30 proteins encoded by the Autophagy‐Related genes (
ATGs
), the functions of which have been dissected using genetic and biochemical approaches.

lncreasingly, it is becoming clear that proteins encoded by ATG genes carry out functions in cellular pathways independent of their roles in autophagy.

Autophagy is a process in which a cup‐shaped, double‐membrane phagophore develops from a region of or near modified endoplasmic reticulum and closes, either unselectively in bulk or selectively, around sequestered cytoplasmic cargos, finally fusing with a lysosome to deliver the contents for degradation.

Dysregulated autophagy contributes to many pathologic processes including cancer and neurodegenerative diseases.
Molecular Genetics of Hypertriglyceridaemia
Authors: Dron Jacqueline S , Hegele Robert A 
Published: March 2017

Abstract

Hypertriglyceridemia (HTG) is a commonly encountered medical condition defined by elevated fasting plasma triglyceride (TG) levels. The degree of elevation may range from mild to severe, with clinical features ranging from asymptomatic to increased vascular disease susceptibility to life‐threatening pancreatitis. While numerous nongenetic secondary factors play a strong contributory role, a genetic component is frequently present in patients who clinically express HTG. Purely monogenic or Mendelian HTG – for example autosomal recessive chylomicronemia – is exceedingly rare and results from bi‐allelic mutations affecting lipolysis. The pool of patients with more common polygenic HTG has an increased frequency of heterozygous large‐effect rare variants in
LPL
(lipoprotein lipase) and related genes, together with a high burden of small‐effect common polymorphisms, although any particular variant is not definitively causative in this condition.

Key Concepts

Hypertriglyceridemia (HTG) ranges from mild to severe, with the role of genetic determinants increasing with a more severe clinical presentation.

One definition proposes that plasma triglyceride (TG) levels in mild‐to‐moderate HTG are between 2.0 and 9.9 mmol L
−1
(175 and 885 mg dL
−1
), while in severe HTG, levels exceed 10 mmol L
−1
(885 mg dL
−1
).

A gamut of secondary factors can contribute to clinical expression of HTG.

Clinical consequences of HTG range from increased vascular disease risk to visible lipid eruptions on the skin to life‐threatening pancreatitis, depending on the affected species of lipoprotein particles and associated disturbances.

Monogenic chylomicronemia is an extreme and rare form of severe HTG that results from bi‐allelic mutations in
LPL
,
APOC2
,
APOA5
,
LMF1
, or
GPIHBP1
genes.

Most other HTG cases have a polygenic basis: this patient pool harbours an assortment of genetic variants, including a high burden of rare heterozygous large‐effect variants and common small‐effect variants.
Predictors of Early Community Involvement: Advancing the Self and Caring for Others
Authors: Lawford Heather L. , Ramey Heather L. 
Published: March 2017

AbstractRecent research on community involvement points to the importance of both agentic (advancing the self) and communal motives (serving others) as key predictors, though few studies have examined both simultaneously. At the same time, research has identified generativity, defined as concern for future generations as a legacy of the self, as particularly relevant for community involvement. Moreover, generativity involves both agentic and communal motives, meaning that advancing personal goals and caring for others are integrated in this construct. Therefore, the purpose of this study was to examine how individual differences in attributes pertaining to self and to others—specifically, self‐esteem, initiative, and empathy—related to both generativity and community involvement. A sample of adolescents (N = 160; 64% female, Mage = 17) and a sample of young adults (N = 237; 84% female, Mage = 20) completed a survey including measures of community involvement and generativity. Generative concern fully mediated the associations between individual differences (self‐esteem, initiative, and empathy) and community involvement, suggesting that the early generativity has a role in fostering capacities and contribution in youth. These developmental indicators pertaining to self and others link to actions that benefit the community through a desire to benefit future generations.
Analysis of workers' compensation disabling claims in Oregon's seafood preparation and packaging industry, 2007‐2013
Authors: Syron Laura N. , Kincl Laurel , Yang Liu , Cain Daniel T. , Smit Ellen 
Published: March 2017

BackgroundFew occupational health and safety studies have focused on the US seafood preparation and packaging industry, and none on Oregon's seafood industry.MethodsOregon workers’ compensation (WC) disabling claims data were analyzed. Oregon Employment Department and US Census Bureau data were used as denominators for rates.ResultsDuring 2007‐2013, there were 188 accepted disabling claims, with an average annual rate of 24 claims per 1000 workers. Men experienced a significantly higher rate (27.6 per 1000) than women. The most frequent incident characteristics and circumstances were: by nature—traumatic injuries to muscles, tendons, ligaments, joints (42%); by body part—upper extremities (44%); and by event—overexertion and bodily reaction (48%), and contact with objects and equipment (31%).ConclusionAnalyzing WC disabling claims data provides important preliminary information for understanding workplace hazards to develop control strategies. Reducing traumatic and cumulative injury risk among seafood workers is paramount.
Rapid Room‐Temperature Gelation of Crude Oils by a Wetted Powder Gelator
Authors: Ren Changliang , Shen Jie , Chen Feng , Zeng Huaqiang 
Published: March 2017

AbstractPhase‐selective organogelators (PSOGs) not only exhibit ability to phase‐selectively congeal oil from oily water but also allow easy separation of gelled oil from the body of water. However, all hitherto reported PSOGs either necessitate carrier solvents for their dissolution or suffer from an extremely slow action in gelling oil in the powder form. A previously unexplored generally applicable wetting strategy is now described to dramatically enhance, by up to two orders of magnitude, gelling speed of the resultant wet but non‐sticky gelator in the powder form in crude oils of widely ranging viscosities. Such unprecedented rapid gelling speeds enable rapid gelation of six types of (un)weathered crude oils within minutes at room temperature, making PSOGs one step closer to their eventual practical uses as one of important oil spill control technologies.
Simultaneous enhancements of mechanical properties and hydrophilic properties of polypropylene via nano‐silicon dioxide modified by polydopamine
Authors: Qiu Zhoutong , Wang Jikui , Yang Kun , Guo Jiahong , Wang Wenqi , Pan Renjie , Wu Genhua 
Published: March 2017

ABSTRACTThis study is focused on the development of high‐performance composite materials based on nano silicon dioxide (nano‐SiO2) modified by polydopamine (PDA). A facile one‐step method was developed to synthesize core–shell structured SiO2@polydopamine (PDA) nanospheres. During the synthesis, a PDA shell was simultaneously coated on the SiO2 nanospheres to form the core–shell nanostructure which was blended with polypropylene (PP) and β nucleating agent (β‐NA) to enhance both mechanical and hydrophilic properties. Nano‐SiO2 particles modified by PDA (SiO2@polydopamine) influence the crystallization of PP seriously. The results indicated that when 1%wt SiO2@polydopamine was added, the impact strength of composite reached the maximum value 12.60k J/m2 increasing 137% compared with PP, the bending strength and bending modulus decreased slightly reaching 41.85 MPa, and 2192 MPa, respectively, the composite possessed hydrophilic performance with the water contact angle of 88.32°. β nucleating agent was used in all formulations, the synergistic effect toward mechanical properties with SiO2@polydopamine was studied. © 2017 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2017, 134, 45004.
A hybrid scheme for real‐time prediction of bus trajectories
Authors: Fadaei Masoud , Cats Oded , Bhaskar Ashish 
Published: March 2017

SummaryThe uncertainty associated with public transport services can be partially counteracted by developing real‐time models to predict downstream service conditions. In this study, a hybrid approach for predicting bus trajectories by integrating multiple predictors is proposed. The prediction model combines schedule, instantaneous and historical data. The contribution of each predictor as well as values of respective parameters is estimated by minimizing the prediction error using a linear regression heuristic. The hybrid method was applied to five bus routes in Stockholm, Sweden, and Brisbane, Australia. The results indicate that the hybrid method consistently outperforms the timetable and delay conservation prediction method for different route layouts, passenger demands and operation practices. Model validation confirms model transferability and real‐time applicability. Generating more accurate predictions can help service users adjust their travel plans and service providers to deploy proactive management and control strategies to mitigate the negative effects of service disturbances. Copyright © 2017 John Wiley & Sons, Ltd.
Glutathione and thioredoxin systems contribute to recombinant monoclonal antibody interchain disulfide bond reduction during bioprocessing
Authors: Handlogten Michael W. , Zhu Min , Ahuja Sanjeev 
Published: March 2017

ABSTRACTAntibody interchain disulfide bond reduction during biopharmaceutical manufacturing has received increased attention since it was first reported in 2010. Antibody reduction leads to loss of product and reduced product stability. It is therefore critical to understand the underlying mechanisms of reduction. To date, the thioredoxin system has been reported as the sole contributor to antibody reduction during bioprocessing. In this work, we show that the glutathione system, in addition to the thioredoxin system, is involved in reducing antibody molecules and the contributions of the two systems can vary depending upon the cell culture process. The roles of the glutathione and thioredoxin systems were evaluated for three molecules with different IgG subclass where reduction was observed during manufacturing: mAb A, mAb B, and mAb C representing an IgG1, IgG2, and IgG4, respectively. The expression of enzymes for both the thioredoxin and glutathione systems were confirmed in all three cell lines. Inhibitors were evaluated using purified mammalian reductases to evaluate their specificity. The optimized experimental conditions enabled both the determination of reductase activity contributed from as well as the amount of antibody reduced by each enzymatic system. Our results demonstrate that the underlying enzymatic mechanisms are different depending upon the cell culture process; one of the two systems may be the dominant mechanism, or both enzymatic systems may be involved. Specifically, the glutathione system was found to be the major contributor to mAb A reduction while the thioredoxin system was the major contributor to mAb C reduction. Intriguingly, mAb B experienced significant reduction from both enzymatic systems. In summary, we have demonstrated that in addition to the thioredoxin pathway, the glutathione system is a second major pathway contributing to antibody reduction and this knowledge can be leveraged to develop more specific antibody reduction mitigation strategies targeted at the dominant reduction mechanism. Biotechnol. Bioeng. 2017;114: 1469–1477. © 2017 Wiley Periodicals, Inc.
Paul of Aegina (ca 625‐690 AD): an early description of a rare basal cell carcinoma of the breast
Authors: Tsoucalas Gregory , Sgantzos Markos 
Published: March 2017

Key Clinical MessageBasal cell carcinoma of the breast is a rare type of skin cancer. A probable case reported c.650AD is described with very similar localized symptoms. Understanding its emergence and evolution could improve diagnosis and treatment.
Development and Application of a Microwave Reactor Radiating through a Leaky Coaxial Antenna
Authors: Lin Shengjie , Peng Yanqing , Hu Junjie , Wang Jiayi , Li Yu , Song Gonghua 
Published: March 2017

AbstractA novel microwave (MW) reactor radiating through a leaky coaxial antenna with an impedance matching unit was developed. The MW energy could be effectively transmitted from the power source to the reactor with a uniform distribution of the electromagnetic field. Simulations of the MW radiating indicated the excellent radiation capacity of electromagnetic waves and a uniform axially extended cylinder MW field around the antenna. The simulation result was in accordance with the antenna efficiency measurements and the temperature distribution. Model reactions of benzoyl hydrazine preparations performed in an open vessel under atmospheric pressure and the preparation of 3‐acetylcoumarin in a sealed reactor under pressure proceeded smoothly on a scale of hundreds of grams.
Validation of Simulation and Mass Transfer Coefficient Prediction with Interfacial Convection
Authors: Liu Botong , Liu Botan , Ge Xiaolong , Yuan Xigang 
Published: March 2017

AbstractInvestigation of interfacial mass transfer by means of numerical simulation is a promising field. In the present work, the Rayleigh convection of the CO2‐ethanol absorption process was simulated using a random‐disturbance model based on the lattice Boltzmann method and the results were compared with the Schlieren observation for validation. It was found that the simulation method was superior for capturing the characteristics of the absorption process. A correlation was then proposed to predict the mass transfer coefficient based on Reynolds mass flux, scalar fluctuation variance, and its dissipation rate, and the correlation was found to be superior to existing methods in terms of phase difference. In this correlation, the mass transfer coefficient was linked with computational mass transfer for the first time.
Cobalt Oxide Catalysts on Commercial Supports for N2O Decomposition
Authors: Klegová Anna , Pacultová Kateřina , Fridrichová Dagmar , Volodarskaja Anastasia , Kovanda František , Jirátová Květa 
Published: March 2017

AbstractCo3O4 oxide catalysts prepared on different commercial supports, namely, TiO2, Al2O3, and Mg‐Al mixed oxides with various Mg and Al concentrations, were characterized by atomic absorption spectrometry, Brunauer‐Emmett‐Teller method, X‐ray diffraction, Fourier transform infrared spectroscopy, scanning electron microscopy, and H2 temperature‐programmed reduction, tested for N2O decomposition, and compared with bulk Co3O4. In spite of the fact that Co3O4/70Mg30Al also contained hardly reducible compounds, it possessed the highest catalytic activity, probably due to the presence of active sites with easier reducibility and better dispersion of the active phase on the support contributing to a higher number of active sites. The conversion over Co3O4‐supported tablets is comparable with that of the same catalyst bed of bulk Co3O4 tableted catalyst.