bluuebunny/crossref_metadata_2025_split huggingface dataset:
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome
Authors: Jiang Xiao , Raju Praveen K. , D'Avanzo Nazzareno , Lachance Mathieu , Pepin Julie , Dubeau François , Mitchell Wendy G. , Bello‐Espinosa Luis E. , Pierson Tyler M. , Minassian Berge A. , Lacaille Jean‐Claude , Rossignol Elsa 
Published: August 2019

AbstractObjectiveDevelopmental epileptic encephalopathies (DEEs) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive deficits. In this study, we explored the pathogenic mechanisms of DEE‐associated de novo mutations in the CACNA1A gene.MethodsWe studied the functional impact of four de novo DEE‐associated CACNA1A mutations, including the previously described p.A713T variant and three novel variants (p.V1396M, p.G230V, and p.I1357S). Mutant cDNAs were expressed in HEK293 cells, and whole‐cell voltage‐clamp recordings were conducted to test the impacts on CaV2.1 channel function. Channel localization and structure were assessed with immunofluorescence microscopy and three‐dimensional (3D) modeling.ResultsWe find that the G230V and I1357S mutations result in loss‐of‐function effects with reduced whole‐cell current densities and decreased channel expression at the cell membrane. By contrast, the A713T and V1396M variants resulted in gain‐of‐function effects with increased whole‐cell currents and facilitated current activation (hyperpolarized shift). The A713T variant also resulted in slower current decay. 3D modeling predicts conformational changes favoring channel opening for A713T and V1396M.SignificanceOur findings suggest that both gain‐of‐function and loss‐of‐function CACNA1A mutations are associated with similarly severe DEEs and that functional validation is required to clarify the underlying molecular mechanisms and to guide therapies.
Innovation efficiency and spatial spillover in urban agglomerations: A case of the Beijing‐Tianjin‐Hebei, the Yangtze River Delta, and the Pearl River Delta
Authors: Sheng Yanwen , Zhao Jinli , Zhang Xuebo , Song Jinping , Miao Yi 
Published: August 2019

AbstractBased on panel data of innovation inputs and outputs in 53 cities of the three major Chinese urban agglomerations (UAs) spanning the 2001–2015 period, this study examines the influence of the spatial spillover effect among cities on innovation efficiency in UAs using the SFA method and a spatial econometric model. Three main conclusions can be draw from the empirical results. First, the innovation efficiency in the three UAs has increased over the research period, but there is enormous potential for improvement. Second, owing to the close socioeconomic linkages and the flow of innovation resources, there is a significantly positive spatial spillover effect between cities on innovation efficiency in the three UAs. In other words, innovation efficiency in a local city was positively influenced by the other cities in the UA. Particularly, the innovation efficiency in a local city is influenced by factors related to not only the city itself but also other cities in the UA. Third, as the geographical distance increases, the spillover effect on innovation efficiency shows nonlinear variations, indicating that the excessive expansion in UAs may not be attributed to innovation development.
A cheat in our midst: How people evaluate and respond to fellow group members who cheat
Authors: Ramdass Jeff V. , Hogg Michael A. 
Published: August 2019

AbstractHaving a group cheat within a group can violate group trust and reduce the benefits gained from group membership. However, group members will sometimes cheat to get an advantage over other in‐group members. In two experiments, the present research investigated how group members evaluate and respond to fellow group members who cheat, and whether group prototypicality or evaluators’ group identification moderate evaluations and behavioral recommendations toward group cheats. In Study 1 (N = 146 undergraduate students), group members evaluated group cheats more negatively than a comparable group deviant. However, highly identified group members would spare a cheat who had high group prototypicality. In Study 2 (N = 227 undergraduate students), highly identified group members rated a one‐time cheat with high prototypicality more favorably than a one‐time cheat with low prototypicality. However, prototypicality did not moderate evaluations toward a multiple time group cheat. In both studies, target evaluations were associated with changes in behavioral recommendations. Overall, results indicate a pattern similar to research on transgression or deviance credit: having group prototypicality can save a group cheat from an initial negative evaluation from highly identified group members, but prototypicality does not buffer against negative evaluations toward multiple time group cheaters.
Estimation of genetic parameters for reproductive traits in connectedness groups of Duroc, Landrace and Yorkshire pigs in China
Authors: Zhang Suoyu , Zhang Jinxin , Olasege Babatunde Shittu , Ma Peipei , Qiu Xiaotian , Gao Hong , Wang Changcun , Wang Yuan , Zhang Qin , Yang Hongjie , Wang Zhigang , Ding Xiangdong , Pan Yuchun 
Published: August 2019

AbstractThe objective of this study was to estimate group‐ and breed‐specific genetic parameters for reproductive traits in Chinese Duroc, Landrace, and Yorkshire populations. Records for reproductive traits between April 1998 and December 2017 from 92 nucleus pig breeding farms, which were involved in the China Swine Genetic Improvement Program, were analysed. Due to weak genetic connectedness across all farms, connectedness groups consisting of related farms were used. Three, two and four connectedness groups for Duroc, Landrace and Yorkshire were firstly established according to the genetic connectedness rating among farms. For each connectedness group a five‐trait animal model was implemented, and via restricted maximum likelihood procedure the genetic parameters were estimated for five reproductive traits i.e., total number born (TNB), number born alive (NBA), litter weight at farrowing (LWF), farrowing interval (FI) and age at first farrowing (AFF). The average of heritabilities among connectedness groups ranged from .01 (for FI in Yorkshire) to .30 (for AFF in Duroc). Estimates of repeatability for litter traits ranged from .14 to .20 and were consistent for each breed, and for FI, the estimates varied from .01 to .11 across breeds and groups. The estimated genetic correlations among litter traits (i.e., TNB, NBA and LWF) were all significantly high (>.56) and similar across breeds. Averaged genetic correlations over three breeds were −.25, −.27, −.18, −.04, −.10, −.02, and .28 for FI‐TNB, FI‐NBA, FI‐LWF, AFF‐TNB, AFF‐NBA, AFF‐LWF and FI‐AFF, respectively. The standard errors of the estimates were all very low (<0.01) in most situations. Results from this study suggest that selection based on TNB which is currently used in dam line selection index can improve NBA and LWF simultaneously. However, care should be taken on FI and AFF as they are both greatly influenced by non‐genetic factors such as management and measurement.
Assessing the accuracy of prediction for milk fatty acids by using a small reference population of tropical Holstein cows
Authors: Petrini Juliana , de Souza Iung Laiza Helena , Petersen Rodriguez Mary Ana , Salvian Mayara , Alberto Rovadoscki Gregori , Colonia Saditt Rocio Robles , Cassoli Laerte Dagher , Lehmann Coutinho Luiz , Fernando Machado Paulo , Wiggans George , Mourão Gerson Barreto 
Published: August 2019

AbstractFatty acids (FA) have been related to effects on human health, sensory quality and shelf life of dairy products, cow's health and methane emission. However, despite their importance, they are not regularly measured in all dairy herds yet, which can affect the accuracy of estimated breeding values (EBV) for these traits. In this case, an alternative is to use genomic selection. Thus, the aim was to assess the use of genomic information in the genetic evaluation for milk traits in a tropical Holstein population. Monthly records (n = 36,457) of milk FA percentage, daily milk yield and quality traits from 4,203 cows as well as the genotypes of 755 of these cows for 57,368 single nucleotide polymorphisms (SNP) were used. Polygenic and genomic–polygenic models were applied for EBV prediction, and both models were compared through the EBV accuracy calculated from the prediction error and Spearman's correlation among EBV rankings. Prediction accuracy was assessed by using cross‐validation. In this case, the accuracy was the correlation between the genomic breeding values (GEBV) obtained as the sum of SNP effects and the EBV obtained in the polygenic model in each validation group. For all traits, the use of the genomic–polygenic model did not alter the animals' ranking, with correlations higher than 0.87. Nevertheless, through this model, the accuracy increased from 1.5% to 6.8% compared to the polygenic model. The correlations between GEBV and EBV varied from 0.52 to 0.68. Therefore, the use of a small group of genotyped cows in the genetic evaluation can increase the accuracy of EBV for milk FA and other traditional milk traits.
The Kimberley, north‐western Australia, as a cradle of evolution and endemic biodiversity: An example using grunters (Terapontidae)
Authors: Shelley James J. , Unmack Peter J. , Dempster Tim , Le Feuvre Matthew C. , Swearer Stephen E. 
Published: August 2019

AbstractAimTo test two prominent, alternate hypotheses that provide explanations for the great accumulation of endemic species in the Kimberley bioregion in north‐western Australia, using an extensively sampled, region wide phylogeny of northern Australia's most species‐rich freshwater fish family, Terapontidae. Specifically, we test whether the Kimberley may act as (1) a “museum” accumulating taxa and endemic species over time or (2) a “cradle” of more recent diversification and neoendemism.LocationThe Australian monsoonal tropics.TaxonGrunters (Terapontidae).MethodsWe obtained a robust and well‐supported Bayesian phylogeny for the family using DNA sequences from mtDNA and nuclear gene regions. We performed molecular phylogenetic analyses using species tree methods including molecular dating analysis, ancestral range reconstruction and diversification analysis.ResultsBased on our phylogeny, the combined molecular clock estimates and likelihood‐based historical‐biogeographic reconstructions suggest that terapontids recently transitioned into the Kimberley from the east during the late‐Miocene. We found that 80% of Kimberley terapontids diversified within the Kimberley in the last 3 Ma. Furthermore, diversification analyses identified a single significant shift in diversification rates ~1.4 Ma that corresponds with a change in global climate midway through the Pleistocene that was predominantly driven by speciation in the Kimberley.Main conclusionsThe weight of evidence suggests that the Kimberley has been a “cradle” of evolution for Terapontidae, rather than a “museum”. Our analysis provides strong evidence for a geologically recent transition of terapontids into the Kimberley from regions to the east during the late‐Miocene followed by a significant increase in speciation rates during the Pleistocene, driven by speciation in the Kimberley. The results provide important insight into the evolutionary and biogeographical processes that have shaped the regions unique biota, which will inform land managers working to protect and conserve both species and the processes responsible for generating and sustaining them.
The cannabinoid receptor 1 is involved in renal fibrosis during chronic allograft dysfunction: Proof of concept
Authors: Dao Myriam , Lecru Lola , Vandermeersch Sophie , Ferreira Mélanie , Ferlicot Sophie , Posseme Katia , Dürrbach Antoine , Hermeziu Bogdan , Mussini Charlotte , Chatziantoniou Christos , François Hélène 
Published: August 2019

AbstractChronic allograft dysfunction (CAD), defined as the replacement of functional renal tissue by extracellular matrix proteins, remains the first cause of graft loss. The aim of our study was to explore the potential role of the cannabinoid receptor 1 (CB1) during CAD. We retrospectively quantified CB1 expression and correlated it with renal fibrosis in 26 kidney‐transplanted patients who underwent serial routine kidney biopsies. Whereas CB1 expression was low in normal kidney grafts, it was highly expressed during CAD, especially in tubular cells. CB1 expression significantly increased early on after transplantation, from day 0 (D0) to month 3 post‐transplant (M3) (22.5% ± 15.4% vs 33.4% ± 13.8%, P < .01), and it remained stable thereafter. CB1 expression correlated with renal fibrosis at M3 (P = .04). In an in vitro model of tacrolimus‐mediated fibrogenesis by tubular cells, we found that tacrolimus treatment significantly induced mRNA and protein expression of CB1 concomitantly to col3a1 and col4a3 up regulation. Administration of rimonabant, a CB1 antagonist, blunted collagen synthesis by tubular cells (P < .05). Overall, our study strongly suggests an involvement of the cannabinoid system in the progression of fibrosis during CAD and indicates the therapeutic potential of CB1 antagonists in this pathology.
‘The psychosocial burden of alopecia areata and androgenetica’: a cross‐sectional multicentre study among dermatological out‐patients in 13 European countries
Authors: Titeca G. , Goudetsidis L. , Francq B. , Sampogna F. , Gieler U. , Tomas‐Aragones L. , Lien L. , Jemec G.B.E. , Misery L. , Szabo C. , Linder D. , Evers A.W.M. , Halvorsen J.A. , Balieva F. , Szepietowski J. , Romanov D. , Marron S.E. , Altunay I.K. , Finlay A.Y. , Salek S.S. , Kupfer J. , Dalgard F.J. , Poot F. 
Published: August 2019

AbstractBackgroundHair diseases play an important burden on patients’ lives, causing significant emotional and psychosocial distress. However, the impairment due to different hair conditions, such as alopecia areata (AA) and androgenetic alopecia (AGA), has rarely been compared.ObjectiveThe aim of this study was to assess the psychological burden of subgroups of patients with different hair diseases and to compare them to a healthy population.MethodsIn this study, we analysed a subgroup of patients with hair diseases from patients of a large multicentre study including 3635 dermatological patients and 1359 controls from 13 European countries. In the subgroup of patients with hair diseases, we analysed the socio‐demographic characteristics, the stress level, and the impact of hair diseases on quality of life (QoL), anxiety, and depression and we compared them among patients with AA, AGA and healthy controls.ResultsThe study population included 115 patients (77% women, 23% men) with hair diseases, 37 of whom with AA and 20 with AGA. Patients with hair diseases had a lower education level than healthy controls (medium educational level: 43% vs. 28%). Overall, 41% of the patients reported stressful life events during the last 6 months compared with 31% of the controls. Patients with the same age, sex, depression level and comorbidities had a worse QoL when suffering from AA than from AGA (Mean Dermatology Life Quality Index score: 5.8 vs. 2.5).ConclusionPatients with hair diseases are more anxious, depressed and have a lower QoL than controls.
Costs and benefits of giant sperm and sperm storage organs in Drosophila melanogaster
Authors: Zajitschek Susanne , Zajitschek Felix , Josway Sarah , Al Shabeeb Reem , Weiner Halli , Manier Mollie K. 
Published: August 2019

AbstractIn Drosophila, long sperm are favoured in sperm competition based on the length of the female's primary sperm storage organ, the seminal receptacle (SR). This sperm–SR interaction, together with a genetic correlation between the traits, suggests that the coevolution of exaggerated sperm and SR lengths may be driven by Fisherian runaway selection. Here, we explore the costs and benefits of long sperm and SR genotypes, both in the sex that carries them and in the sex that does not. We measured male and female fitness in inbred lines of Drosophila melanogaster derived from four populations previously selected for long sperm, short sperm, long SRs or short SRs. We specifically asked: What are the costs and benefits of long sperm in males and long SRs in females? Furthermore, do genotypes that generate long sperm in males or long SRs in females impose a fitness cost on the opposite sex? Answers to these questions will address whether long sperm are an honest indicator of male fitness, male post‐copulatory success is associated with male precopulatory success, female choice benefits females or is costly, and intragenomic conflict could influence evolution of these traits. We found that both sexes have increased longevity in long sperm and long SR genotypes. Males, but not females, from long SR lines had higher fecundity. Our results suggest that sperm–SR coevolution is facilitated by both increased viability and indirect benefits of long sperm and SRs in both sexes.
Can We Learn From Student Mistakes in a Formative, Reading Comprehension Assessment?
Authors: Liu Bowen , Kennedy Patrick C. , Seipel Ben , Carlson Sarah E. , Biancarosa Gina , Davison Mark L. 
Published: August 2019

AbstractThis article describes an ongoing project to develop a formative, inferential reading comprehension assessment of causal story comprehension. It has three features to enhance classroom use: equated scale scores for progress monitoring within and across grades, a scale score to distinguish among low‐scoring students based on patterns of mistakes, and a reading efficiency index. Instead of two response types for each multiple‐choice item, correct and incorrect, each item has three response types: correct and two incorrect response types. Prior results on reliability, convergent and discriminant validity, and predictive utility of mistake subscores are briefly described. The three‐response‐type structure of items required rethinking the item response theory (IRT) modeling. IRT‐modeling results are presented, and implications for formative assessments and instructional use are discussed.
H test for exclusion: A guide to an intervention approach to lessen the risk of aflatoxin‐contaminated foods in sorely contaminated regions
Authors: Elzupir Amin O. , Ahmed Waleed E. 
Published: August 2019

AbstractThis research was done on the assumption that the risk for hepatocellular carcinoma (HCC) development that attributed to the consumption of highly contaminated food (HCF) with aflatoxin, may have a major contribution to the total of expected risk. If this hypothesis is true, it is easy to apply an effective and low‐cost intervention approach by excluding HCF and then subjecting it to treatments before use. To examine this hypothesized, H test for exclusion (Hx) model was developed as a computer program, in order to estimates the daily intake, the margin of exposure, and HCC cases per 105 individuals for selected groups of contaminated food samples. To show how this model works, the model was demonstrated in a real example. The obtained results showed that the actual application of excluding HCF would result in a reduction of the expected cancer cases by 58%. Further, this model illustrates comparisons between permitted and nonpermitted samples with regards to international legislation. The model is particularly suitable for regions where contaminated crops and foods are prevalent. It is also convenient for addressing chronic exposure of commonly consumed food commodities to lower contamination levels.Practical applicationsFor aflatoxin in contaminated crops, the Hx program can be used in order to estimates the daily intake, the margin of exposure (MOE), and the expected hepatocellular carcinoma (HCC) cases per 105. Furthermore, it provides a smooth rapprochement between non‐permitted and permitted samples in accordance with international legislation. In fact, the actual application of the model in regions where contaminated crops and foods are predominant can lead to efficient treatments with limited economic losses by excluding HCF.
Plug the needle hub during subcision for a bloodless field
Authors: Afra T P , Razmi T Muhammed , Tarun Narang , Dogra Sunil 
Published: August 2019

AbstractBackgroundSubcision is a simple such procedure with considerable efficacy especially in the management of the rolling type of atrophic post‐acne scars. Since its introduction in 1995, the technique has undergone several modifications to enhance its results as well as to improve the ergonomics. However, ‘gushing' of blood through the hub of the needle smears the surgeon's gloves and the treatment field, which is not desirable both aesthetically and hygienically.AimTo describe a simple technique to avoid blood spillage to the treatment field while doing subcision.MethodWhile doing subcision, the open hub of the needle used was plugged with a button of sterile cotton and cyanoacrylate glue. The new technique was demonstrated on a patient with atrophic post‐acne scars.ResultsThere was no blood spillage through the hub of the needle.ConclusionThis simple modification of subcision helps to attain a bloodless treatment area which also has an added advantage of better assessment of the targeted endpoints at the treatment site.
Secularism as a field of class struggle: State, religion, and class relations in Turkey
Authors: Uysal Gönenç 
Published: August 2019

AbstractThe dialectical relationship between secularism and capitalism, where contradictions in this relationship are resolved on the basis of class relations, results in various state‐religion relationships in different social formations. The limitations and particularities of secularism are exaggerated in countries that arrived late at capitalism, such as Turkey. These late‐developers are subject to the dynamics of uneven and combined development. This paper borrows from Marxism, particularly the theory of uneven and combined development, in order to explore the relationship between the consolidation of the modern nation‐state and its secularisation process during the bourgeois revolution of 1923 in Turkey.
The science of childhood and the pedagogy of the state: Postcolonial development in India, 1950s
Authors: Sriprakash Arathi , Sutoris Peter , Myers Kevin 
Published: August 2019

AbstractThis article examines how, in the decade following India's independence, the psychology of childhood became a locus of experimentation, and an avenue through which approaches to postcolonial development were expressed. Tracing the ideas of educational reformers, psychological researchers and child welfare advocates, we show how a ‘science of childhood’ in this period emphasised both the inherent potential and the emotional complexity of India's young citizens. However, while identifying this potential, these actors at times circumscribed it by deploying culturalist assumptions about Indian childhood that were linked to a teleology of the new nation state. These were ideas that shaped a ‘pedagogic’ approach to postcolonial modernisation. Nation‐building was not just a technocratic undertaking, but an educative project that was scientific, spiritual, and therapeutic in orientation. The article argues for greater attention to the pedagogy of the state in analyses of past and present state‐citizen relations.