bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families
Authors: Escobar Laura I. , Simian Christopher , Treard Cyrielle , Hayek Donia , Salvador Carolina , Guerra Norma , Matos Mario , Medeiros Mara , Enciso Sandra , Camargo María Dolores , Vargas‐Poussou Rosa 
Published: February 2016

AbstractBackgroundAutosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia.MethodsNine unrelated families were studied: seven children, a teenager, and an adult with dRTA. Hearing was preserved in four children. Coding regions of the genes responsible for recessive dRTA were analysed by Sanger sequencing.ResultsMolecular defects were found in the genes ATP6V1B1 and ATP6V0A4. We identified three homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs*56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5. Three patients were homozygous for one novel (p.Arg743Trp) and one known (p.Asp411Tyr) missense mutations in the ATP6V0A4 gene. Three patients were compound heterozygous: one proband displayed two novel mutations, the frameshift mutation p.Val52Metfs*25, and a large deletion of exons 18–21; two probands showed the missense mutation p.Asp411Tyr and as a second mutation, p.Arg194Ter and c.1691+2dup, respectively.ConclusionATP6V0A4 and ATP6V1B1 genes were involved in recessive dRTA of Mexican families. All ATP6V1B1 mutations detected were homozygous and all patients developed sensorineural hearing loss (SNHL) early in infancy. ATP6V0A4 mutations were found in one infant and three children without SNHL, and in one teenager and one adult with SNHL confirming the phenotypic variability in this trait. The mutation p.Asp411Tyr detected in four Mexican families was due to a founder effect. Screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA in this population.
A variational framework for fiber‐reinforced viscoelastic soft tissues including damage
Authors: Vassoler J. M. , Stainier L. , Fancello E. A. 
Published: February 2016

SummaryFibrous soft biological tissues such as skin, ligaments, tendons, and arteries are non‐homogeneous composite materials composed of fibers embedded in a ground substance. Cyclic tensile tests on these type of materials usually show a hysteretic stress–strain behavior in which strain rate dependence (viscoelasticity) and softening (Mullins' effect) play a coupled role. The main contribution of the present paper is to present unified variational approach to model both coupled phenomena: nonlinear viscoelasticity and Mullins‐like softening behavior. The approach is labeled as variational because viscous‐strain and damage internal variables are updated based on the minimization of a hyperelastic‐like potential that takes a renewed value at each time step. Numerical examples explores (a) the versatility of the proposed model to account for the two described phenomena according to the chosen functions for the free‐energy and dissipative potentials, (b) the ability of the time‐integration scheme embedded in the incremental potential definition to allow for large time increments, and (c) the capability of the model to mimic experimentally obtained stress–strain cyclic curves of soft tissues. The model implementation on standard finite elements is also tested in which symmetric analytic tangent matrices are used as a natural consequence of the variational nature of the proposed approach. Copyright © 2016 John Wiley & Sons, Ltd.
The Italian version of Perfectionistic Self‐Presentation Scale: psychometric proprieties and its associations with pathological narcissism and adult attachment in an adult non clinical sample
Authors: Borroni Serena , Bortolla Roberta , Lombardi Lucrezia M. G. , Somma Antonella , Maffei Cesare , Fossati Andrea 
Published: February 2016

AbstractThe present study aims to evaluate the psychometric properties of the Italian version of the Perfectionistic Self‐Presentation Scale (PSPS) in 447 nonclinical adult volunteers (63.5% female; mean age = 36.89 years). In our sample the PSPS total score and PSPS scales showed adequate internal consistency reliability estimates, and both the dimensionality analyses and WLSMV exploratory structural model supported the original three factors structure for PSPS items. We found a significant correlation between perfectionistic self‐presentation and pathological narcissism and a significant role of attachment patterns in explaining the differences between these two constructs. Perfectionistic participants were characterized by avoidant and anxiety attachment styles, while narcissistic participants reported an anxiety style only. As a whole, our findings support the hypothesis that the Italian version of the PSPS is a reliable measure of perfectionist self‐presentation in an adult community sample. Copyright © 2016 John Wiley & Sons, Ltd.
Native and Nonnative Teachers of L2 Pronunciation: Effects on Learner Performance
Authors: Levis John M. , Sonsaat Sinem , Link Stephanie , Barriuso Taylor Anne 
Published: February 2016

Both native and nonnative language teachers often find pronunciation a difficult skill to teach because of inadequate training or uncertainty about the effectiveness of instruction. But nonnative language teachers may also see themselves as inadequate models for pronunciation, leading to increased uncertainty about whether they should teach pronunciation (Golombek & Jordan, 2005). Although studies have regularly shown that instruction is effective in promoting pronunciation improvement (Saito, 2012), it is not known if improvement depends on the native language of the instructor, nor if learners improve differently depending on whether their teacher is native or nonnative. This study investigated the effect of teachers' first language on ratings of change in accentedness and comprehensibility. Learners in intact English classes were taught one class by a nonnative‐ and one by a native‐English‐speaking teacher. Each teacher taught the same pronunciation lessons over the course of 7 weeks. Results show that native listeners' ratings of the students' comprehensibility were similar for both teachers, despite many learners' stated preference for native teachers. The results offer encouragement to nonnative teachers in teaching pronunciation, suggesting that, like other language skills, instruction on pronunciation skills is more dependent on knowledgeable teaching practices than on native pronunciation of the teacher.
Sovereignty over natural resources and its implications for climate justice
Authors: Banai Ayelet 
Published: February 2016

In the current international system, sovereign states hold extensive rights over the natural resources in their territories. How are sovereign rights in natural resources justified? What are the implications of these rights for the demands of climate justice, which pertain to the use and management of natural resources—for example, rainforests? This article reviews five theories of territorial rights, in contemporary political and legal philosophy, and the justifications that they provide for territorial jurisdiction over natural resources. It is argued that insofar as the philosophical‐normative perspectives justify sovereigns’ jurisdiction over natural resources within their borders, they also give rise to limits on the legitimate and permissible exercise of the jurisdictional prerogative. This theoretical proposition is then illustrated in the case of international climate‐justice obligations of rain‐forest‐rich countries. WIREs Clim Change 2016, 7:238–250. doi: 10.1002/wcc.383This article is categorized under:

Climate, Nature, and Ethics > Climate Change and Global Justice
A computational chemist's guide to accurate thermochemistry for organic molecules
Authors: Karton Amir 
Published: February 2016

Composite ab initio methods are multistep theoretical procedures specifically designed to obtain highly accurate thermochemical and kinetic data with confident sub‐kcal mol−1 or sub‐kJ mol−1 accuracy. These procedures include all energetic terms that contribute to the molecular binding energies at these levels of accuracy (e.g., CCSD(T), post‐CCSD(T), core–valence, relativistic, spin‐orbit, Born–Oppenheimer, and zero‐point vibrational energy corrections). Basis‐set extrapolations (and other basis‐set acceleration techniques) are used for obtaining these terms at sufficiently high levels of accuracy. Major advances in computer hardware and theoretical methodologies over the past two decades have enabled the application of these procedures to medium‐sized organic systems (e.g., ranging from benzene and hexane to amino acids and DNA bases). With these advances, there has been a proliferation in the number of developed composite ab initio methods. We give an overview of the accuracy and applicability of the various types of composite ab initio methods that were developed in recent years. General recommendations to guide selection of the most suitable method for a given problem are presented, with a special emphasis on organic molecules. WIREs Comput Mol Sci 2016, 6:292–310. doi: 10.1002/wcms.1249This article is categorized under:

Electronic Structure Theory > Ab Initio Electronic Structure Methods
Theoretical and Physical Chemistry > Thermochemistry
Group II introns: versatile ribozymes and retroelements
Authors: McNeil Bonnie A. , Semper Cameron , Zimmerly Steven 
Published: February 2016

Group II introns are catalytic RNAs (ribozymes) and retroelements found in the genomes of bacteria, archaebacteria, and organelles of some eukaryotes. The prototypical retroelement form consists of a structurally conserved RNA and a multidomain reverse transcriptase protein, which interact with each other to mediate splicing and mobility reactions. A wealth of biochemical, cross‐linking, and X‐ray crystal structure studies have helped to reveal how the two components cooperate to carry out the splicing and mobility reactions. In addition to the standard retroelement form, group II introns have evolved into derivative forms by either losing specific splicing or mobility characteristics, or becoming functionally specialized. Of particular interest are the eukaryotic derivatives—the spliceosome, spliceosomal introns, and non‐LTR retroelements—which together make up approximately half of the human genome. On a practical level, the properties of group II introns have been exploited to develop group II intron‐based biotechnological tools. WIREs RNA 2016, 7:341–355. doi: 10.1002/wrna.1339This article is categorized under:

RNA Processing > Splicing Mechanisms
RNA-Based Catalysis > RNA Catalysis in Splicing and Translation
Organic Matter Characterization of Carbonaceous Shales from Raniganj Coalfields and its Implications on Depositional Condition: A Palynofacies and Petrographic Overview
Authors: Mahesh S. , Murthy Srikanta , Sabina K. Pauline , Saran Shinjini , Singh Vikram Partap 
Published: February 2016

Abstract
The present work deals with the palaeoenvironment and depositional setting of the subsurface sediments from bore hole RT-4 of Tamra block from Raniganj coalfield of Damodar Basin, India. Nineteen shale samples were subjected to palynological and coal petrographical analyses. On the basis of botanical affinity between the miospores and the parent plants as well as the different plant groups, each coal plant assemblage was determined. The dominance of bisaccates such as Scheuringipollenites, Faunipollenites (=Protohaploxypinus), Striatopodocarpites and presence of monosaccates such as Densipollenites, Parasaccites reflect a peat forming community composed mainly of gymnosperms. Subordinate trilete spores derived from filicopsids (Cyclogranisporites, Horriditriletes, Brevitirletes, Callumispora, Microbaculsispora, Microfoveolatispora, Cyclobaculisporites), lycopsids (Indotriradites, Gondispoirtes and Didecitriletes) and sphenopsids (Laevigatosporites) are less abundant occurring in variable proportions reflecting a hypautocthonous taphocenose. Presence of Botryococccus algae has been recorded. Palynofacies and petrographic analyses suggest deposition in open mires in a Limnic to limno-telmatic conditions with intermittent flooding of the site.
Sub-surface Coal Seams of Bhupalpalli and Golapalli Areas of Godavari Valley Coalfield and their Petrographic Characteristics
Authors: Sarate Omprakash S. 
Published: February 2016

Abstract:
The research work details the maceral organization of eleven coal seams intersected at a maximum depth of 446.45 m from Bhupalpalli area of the Mulug coal belt, in Warangal district of Godavari valley. Samples for petrographic study have been collected from ten coal seams intersected between 106 m and 299 m depth range from Bore-hole No. 618 which includes, IA and its underlying I, II, Index below II, IIIB, IIIA, III, IVA, IV and Index below IV respectively. However, the coal samples from the bottom most V seam were collected from Bore-hole No. 616 encountered between 445.65 m and 446.45 m. The study has revealed that V seam is marked by vitric type and seam IVA contains coal of fusic nature. The seams I, II, Index below II, IIIB, IIIA and IV, however, are represented by mixed type of coal. Whereas, the seams IA and III have the prevalence of vitric as well as mixed coal types. IA seam has witnessed alternate oxic and anoxic moor condition and also wet moor with intermittent moderate to high flooding. All the other seams have been deposited during alternate oxic and anoxic moor conditions. The coal seams of the study area have shown a wide range of variation in vitrinite reflectance (Ro mean %). The top of III, basal part of IV and the entire Index below IV have recorded high vitrinite reflectance (Ro mean %), which ranges between 0.66-0.67% thus they have reached high volatile bituminous B stage, all the other seams show lower reflectance and therefore have attained high volatile bituminous C rank.
Is it Time to Jump off the Sustainability Bandwagon?
Authors: DesJardins Joseph 
Published: February 2016

ABSTRACT:Almost thirty years after its initial use in the Brundtland Report, the concept of “sustainability” has become ubiquitous within business, with virtually every company division across a broad range of industries developing “sustainable” models and practices. While the original Brundtland idea of sustainable development has the potential to do much good in guiding business practice, this potential is being undermined by the systematic misuse, misunderstanding, and flawed application of the concept in many business settings. Under the guise of sustainability, business is being asked to do both less than and more than what should be required by a commitment to sustainable development. As a result, serious ethical and practical questions go unanswered, questions that must be addressed before sustainability can become a meaningful business strategy. This address situates sustainable business within its original context of sustainable development and argues against attempts to convert sustainability either into a narrow concept of risk management or into a broad concept of social responsibility. It then lays out a sustainability research agenda that helps us understand how to create businesses that can meet present and future needs without jeopardizing future generations via the destruction of the biosphere.
Rarefaction-driven Rayleigh–Taylor instability. Part 1. Diffuse-interface linear stability measurements and theory
Authors: Morgan R. V. , Likhachev O. A. , Jacobs J. W. 
Published: February 2016

Theory and experiments are reported that explore the behaviour of the Rayleigh–Taylor instability initiated with a diffuse interface. Experiments are performed in which an interface between two gases of differing density is made unstable by acceleration generated by a rarefaction wave. Well-controlled, diffuse, two-dimensional and three-dimensional, single-mode perturbations are generated by oscillating the gases either side to side, or vertically for the three-dimensional perturbations. The puncturing of a diaphragm separating a vacuum tank beneath the test section generates a rarefaction wave that travels upwards and accelerates the interface downwards. This rarefaction wave generates a large, but non-constant, acceleration of the order of $1000g_{0}$, where $g_{0}$ is the acceleration due to gravity. Initial interface thicknesses are measured using a Rayleigh scattering diagnostic and the instability is visualized using planar laser-induced Mie scattering. Growth rates agree well with theoretical values, and with the inviscid, dynamic diffusion model of Duff et al. (Phys. Fluids, vol. 5, 1962, pp. 417–425) when diffusion thickness is accounted for, and the acceleration is weighted using inviscid Rayleigh–Taylor theory. The linear stability formulation of Chandrasekhar (Proc. Camb. Phil. Soc., vol. 51, 1955, pp. 162–178) is solved numerically with an error function diffusion profile using the Riccati method. This technique exhibits good agreement with the dynamic diffusion model of Duff et al. for small wavenumbers, but produces larger growth rates for large-wavenumber perturbations. Asymptotic analysis shows a $1/k^{2}$ decay in growth rates as $k\rightarrow \infty$ for large-wavenumber perturbations.
The Economic Roots of External Efficacy: Assessing the Relationship between External Political Efficacy and Income Inequality
Authors: Norris Mikel 
Published: February 2016

AbstractExternal political efficacy, the belief that government is responsive to the demands of its citizens, has been declining in the United States since the 1960s. However, scholars do not yet fully understand the reasons for its decline. Nor have they found suitable explanations for why it fluctuates within the electorate. Drawing on the growing literature on the effects of income inequality on public policy, I posit that increasing income inequality factors into the decline of external political efficacy. Using multilevel regression models accounting for individual and contextual factors, I find increasing state-level income inequality has a substantial negative effect on external political efficacy. It is greater than most state and national-level economic measures or individual-level variables on external political efficacy. These results have important implications both for research on income inequality and political participation and also for research on income inequality and distributional public policy.
Gold Value Clauses and Public Policy
Authors: Hirschberg Eliahu 
Published: February 2016

Gold value clauses are rarely used in England. In the United States, before the Joint Resolution of both Houses of Congress of January 5, 1933, which abrogated gold clauses in the U.S. retrospectively and prospectively, declaring them to be against public policy, gold coin clauses were a common occurrence. In the past on the European continent much use has been made of gold value clauses.In England gold value clauses may assume greater importance in the future. Lately, the two-tier system of gold prices has been introduced, one between Central Banks and another at the free market price. In an individual gold value clause, the question of which price is recognized by the parties, who probably did not in fact foresee the possibility of the creation of a two-tier system, is one of construction. Even today, a party to a gold value clause which refers to the free market price may gain a profit, if there is an appreciation of the price of gold on the free market above the U.S. government minimum level of $35.00 per ounce.
The Conflict of Personal Laws, Part 1
Authors: Vitta Edoardo 
Published: February 2016

I. Historical and Comparative Backround:(1) Early medieval times. (2) The Ottoman Empire and successor States. (3) Personal laws in the colonies. (4) State and Church law as personal laws.II. The Personal Laws as Autonomous Legal Systems:(1) Notion of legal system. (2) Personal legal systems. (3) Relationships between personal legal systems and between such systems and the State. (4) The dominant position of the State. (5) The personal laws as autonomous legal systems.III. The Conflict of Personal Laws and the Interpretation of its Rules:(1) State legislation relating to personal laws. (2) The problem of qualification. (3) The renvoi problem. (4) Public policy.IV. Connecting Principles:(1) Membership of an ethnic or religious group. (2) Influence of the will of the parties. (3) Other connecting principles.V. Nature and Historical Function of the Conflict of Personal Laws:(1) The legal nature of the Conflict of Personal Laws. (2) The historical function of the conflict of Personal Laws.
The Laws of Eshnunna
Authors: Yaron Reuven 
Published: February 2016

The laws of the Old-Babylonian kingdom of Eshnunna (LE) were discovered in 1945 and 1947, on two parallel tablets, during excavations on the outskirts of Baghdad. In 1948 a first edition, with English translation, was published by Professor Albrecht Goetze, of Yale University. Since then the LE have been translated into many languages, major and minor, and a considerable literature has grown up around them. Goetze himself has repeatedly returned to the Laws of Eshnunna. His standard edition of the LE, now in general use by scholars, was published in 1956.Eshnunna, to the east of the river Tigris, flourished during the early second millennium B.C. Much of its history is as yet uncertain. Here it will suffice to note that it finally fell victim to the expansionist policies pursued with success by Hammurabi of Babylon, during the fourth decade of his reign. The date of promulgation of the LE is uncertain, but it is at least agreed that they precede the Code of Hammurabi, though one cannot know by how much. It is then a fair guess that they were issued in the course of the 18th century B.C.; thus they constitute the earliest collection known at present, of legal rules in Akkadian.
The Conflict of Personal Laws, Part II
Authors: Vitta Edoardo 
Published: February 2016

The characteristic function of private international law is to declare the law applying to cases containing a foreign element, by pointing out the general principles upon which all the legislation on the matter is based and developed. The function of such principles is to help to specify the law considered appropriate in individual cases. Private international law knows several such principles such as domicile, nationality, the will of the parties, the place where a contract is concluded or where an immovable is situated, etc.Conflict of personal laws is also based on connecting principles, although of a different character. The main connecting principle is the ethnic or religious association of the parties. Nationality or domicile of the parties, the two connecting principles on which the main systems of private international law are based, may not be resorted to in the conflict of personal laws. Nationality may be taken as a basis for deciding which is the most appropriate law to be applied to the relationships between nationals of different States, but not for deciding which law is to be applied to parties who, being members of different legal systems, are nevertheless all nationals of the same State. As to domicile, it may help to solve a similar problem arising between persons domiciled in different countries or between persons domiciled in different parts of the same country within which different territorial laws are in force; but it can serve no useful purpose in relation to nationals of the same State to whom different laws apply by reason of their ethnic or religious origin and who live scattered throughout the whole of the territory of the State.