bluuebunny/crossref_metadata_2025_split huggingface dataset:
A genome‐wide association study for a proxy of intermuscular fat level in the Italian Large White breed identifies genomic regions affecting an important quality parameter for dry‐cured hams
Authors: Fontanesi L. , Schiavo G. , Galimberti G. , Bovo S. , Russo V. , Gallo M. , Buttazzoni L. 
Published: February 2017

SummaryIntermuscular fat content in protected designations of origin dry‐cured hams is a very important meat quality trait that affects the acceptability of the product by the consumers. An excess in intermuscular fat (defined as the level of fat deposition between leg muscles) is a defect that depreciates the final product. In this study we carried out a genome‐wide association study for visible intermuscular fat (VIF) of hams in the Italian Large White pig breed. This trait was evaluated on the exposed muscles of green legs in 1122 performance‐tested gilts by trained personnel, according to a classification scale useful for routine and cheap evaluation. All animals were genotyped with the Illumina PorcineSNP60 BeadChip. The genome‐wide association study identified three QTL regions on porcine chromosome 1 (SSC1; accounting for ~79% of the SNPs below the 5.0E−04 threshold) and SSC2, two on SSC7 and one each on SSC3, SSC6, SSC9, SSC11, SSC13, SSC15, SSC16 and SSC17. The most significant SNP (ALGA0004143 on SSC1 at 77.3 Mb; PFDR < 0.05), included in the largest QTL region which spanned about 6.8 Mb on SSC1, is located within the glutamate ionotropic receptor kainate type subunit 2 (GRIK2) gene. Functional annotation of all genes included in QTL regions for VIF suggested that intermuscular fat in the Italian Large White breed is a complex trait apparently influenced by complex biological mechanisms also involving obesity‐related processes. These QTL target mainly chromosome regions different from those affecting subcutaneous and intramuscular fat deposition.
Institutional investors as stewards of the corporation: Exploring the challenges to the monitoring hypothesis
Authors: Ivanova Mila R. 
Published: February 2017

AbstractThe study explores the challenges UK‐based institutional investors face when trying to monitor investee companies and influence their social, environmental, and governance practices. Consistent with previous research, I find that misalignment of interests within the investment chain and dispersed ownership are factors which inhibit investor activism. However, other underexplored challenges include lack of investee company transparency and investor experience in activism, as well as low client demand for engagement and internal conflicts of interest. The results contribute to the literature on institutional investor activism by using direct empirical evidence to systematically discuss the challenges to stewardship. Given the intensification of media and regulatory attention on shareholders in the post‐global financial crisis era, coupled with investors’ growing awareness and practice of stewardship, the research opens new avenues for enquiry which go beyond the on‐going debate about the monitoring versus short‐termism roles of institutional investors.
The drowning of a siliciclastic shelf: insights into oceanographic reconstructions of the northern Arabian Platform during the Early Cretaceous
Authors: Bialik Or M. , Waldmann Nicolas 
Published: February 2017

AbstractBarremian‐Aptian sedimentary successions along the northern Arabian margin have been described as a transition from a siliciclastic to a carbonate‐dominated marine environment, deposited upon a low‐relief shelf or platform formed as a consequence of continuous regional subsidence. A long (360 m) core from northern Israel offers a unique look at this transition, providing valuable insights for the palaeoceanography, geometry and ventilation conditions that lead to Oceanic Anoxic Event 1 (OAE1) in this region. Results from high‐resolution elemental, mineralogical, sedimentological and petrophysical analyses carried out revealed the emplacement of abundant mass‐transport deposits (MTDs) during the Late Barremian and the Aptian. The transplanted units are characterized by fine grained calcareous shales with elevated organic matter, sulphur and iron contents. The scarcity or absence of bioturbation in the disturbed sequences provides a hint to the sediment/water interface conditions. However, a decrease in sulphur and iron occurring at the contact between the shales and the MTDs is explained as increased oxic conditions at the sediment‐water interface as a result of turbulence and mixing associated with the descending sediment masses. Such recurrent events ventilation of the low‐energy basinal environment during the Late Barremian and Aptian, predate the wide‐scale establishment of OAE1 in the northern Arabian margin. Moreover, the identification of coarse‐grained MTDs within deep‐water calcareous sediments indicates a much steeper gradient of the northern Arabian margin, challenging previous studies.
Does Parental Mind‐Mindedness Account for Cross‐Cultural Differences in Preschoolers’ Theory of Mind?
Authors: Hughes Claire , Devine Rory T. , Wang Zhenlin 
Published: February 2017

This study of 241 parent–child dyads from the United Kingdom (N = 120,Mage = 3.92,SD = 0.53) and Hong Kong (N = 121,Mage = 3.99,SD = 0.50) breaks new ground by adopting a cross‐cultural approach to investigate children's theory of mind and parental mind‐mindedness. Relative to the Hong Kong sample, U.K. children showed superior theory‐of‐mind performance and U.K. parents showed greater levels of mind‐mindedness. Within both cultures parental mind‐mindedness was correlated with theory of mind. Mind‐mindedness also accounted for cultural differences in preschoolers’ theory of mind. We argue that children's family environments might shed light on how culture shapes children's theory of mind.
PAX9 gene mutations and tooth agenesis: A review
Authors: Bonczek O. , Balcar V.J. , Šerý O. 
Published: February 2017

Paired box 9 (PAX9) is one of the best‐known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal‐dominant isolated (non‐syndromic) oligodontia or hypodontia.In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the
PAX9 gene as it appears in the current DNA databases.
Environmental DNA genetic monitoring of the nuisance freshwater diatom, Didymosphenia geminata, in eastern North American streams
Authors: Keller Stephen R. , Hilderbrand Robert H. , Shank Matthew K. , Potapova Marina 
Published: February 2017

AbstractAimEstablishing the distribution and diversity of populations in the early stages of invasion when populations are at low abundance is a core challenge for conservation biologists. Recently, genetic monitoring for environmental DNA (eDNA) has become an effective approach for the early detection of invaders, especially for microscopic organisms where visual detection is challenging. Didymosphenia geminata is a globally distributed freshwater diatom that shows a recent emergence of nuisance blooms, but whose native versus exotic status in different areas has been debated. We address the hypothesis that the distribution and genetic diversity of D. geminata in eastern North America is related to the recent introduction of non‐native lineages, and contrast that with the alternative hypothesis that D. geminata is cryptically native to the region (i.e. at low abundance) and only forms nuisance blooms when triggered by a change in environment.LocationThe Mid‐Atlantic region of North America.MethodsWe analysed 118 stream samples for D. geminata eDNA, validated our results for a subset of sites using direct visual enumeration by microscopy and used molecular cloning to sequence D. geminata from two sites where eDNA was detected.Results(1) D. geminata eDNA was detected at seven spatially unique sites, six of which were previously documented to contain recent D. geminata blooms. (2) Sites where D. geminata eDNA was detected exhibited no difference in environmental conditions compared to sites with no‐detected D. geminata eDNA. (3) Sequencing of D. geminata eDNA showed that blooms were composed of multiple genetic lineages, closely related to those sampled elsewhere across the globe.Main conclusionsWe interpret these results as most consistent with the hypothesis that D. geminata is an exotic invader in the Mid‐Atlantic region, still in its early stages of invasion; thus, genetic monitoring and management efforts may still be effective at controlling its spread.
Older but not younger infants associate own‐race faces with happy music and other‐race faces with sad music
Authors: Xiao Naiqi G. , Quinn Paul C. , Liu Shaoying , Ge Liezhong , Pascalis Olivier , Lee Kang 
Published: February 2017

AbstractWe used a novel intermodal association task to examine whether infants associate own‐ and other‐race faces with music of different emotional valences. Three‐ to 9‐month‐olds saw a series of neutral own‐ or other‐race faces paired with happy or sad musical excerpts. Three‐ to 6‐month‐olds did not show any specific association between face race and music. At 9 months, however, infants looked longer at own‐race faces paired with happy music than at own‐race faces paired with sad music. Nine‐month‐olds also looked longer at other‐race faces paired with sad music than at other‐race faces paired with happy music. These results indicate that infants with nearly exclusive own‐race face experience develop associations between face race and music emotional valence in the first year of life. The potential implications of such associations for developing racial biases in early childhood are discussed.
Molecular diagnosis of α‐thalassemia in a multiethnic population
Authors: Gilad Oded , Shemer Orna Steinberg , Dgany Orly , Krasnov Tanya , Nevo Michal , Noy‐Lotan Sharon , Rabinowicz Ron , Amitai Nofar , Ben‐Dor Shifra , Yaniv Isaac , Yacobovich Joanne , Tamary Hannah 
Published: February 2017

AbstractObjectiveα‐Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α‐globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α‐thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of genetic analyses of DNA samples referred to our laboratory for the molecular diagnosis of α‐thalassemia, along with a detailed clinical description.MethodsWe utilized a diagnostic algorithm including Gap‐PCR, to detect known deletions, followed by sequencing of the α‐globin gene, to identify known and novel point mutations, and multiplex ligation‐dependent probe amplification (MLPA) for the diagnosis of rare or novel deletions.Resultsα‐Thalassemia was diagnosed in 662 of 975 samples referred to our laboratory. Most commonly found were deletions (75.3%, including two novel deletions previously described by us); point mutations comprised 25.4% of the cases, including five novel mutations. Our population included mostly Jews (of Ashkenazi and Sephardic origin) and Muslim Arabs, who presented with a higher rate of point mutations and hemoglobin H disease. Overall, we detected 53 different genotype combinations causing a spectrum of clinical phenotypes, from asymptomatic to severe anemia.ConclusionOur work constitutes the largest group of patients with α‐thalassemia originating in the Mediterranean whose clinical characteristics and molecular basis have been determined. We suggest a diagnostic algorithm that leads to an accurate molecular diagnosis in multiethnic populations.
Forced expression of human macrophage colony‐stimulating factor in CD34+ cells promotes monocyte differentiation in vitro and in vivo but blunts osteoclastogenesis in vitro
Authors: Montano Almendras Carmen P. , Thudium Christian S. , Löfvall Henrik , Moscatelli Ilana , Schambach Axel , Henriksen Kim , Richter Johan 
Published: February 2017

AbstractObjectivesHere, we tested the hypothesis that human M‐CSF (hM‐CSF) overexpressed in cord blood (CB) CD34+ cells would induce differentiation and survival of monocytes and osteoclasts in vitro and in vivo.MethodsHuman M‐CSF was overexpressed in cord blood CD34+ cells using a lentiviral vector.ResultsWe show that LV‐hM‐CSF‐transduced CB CD34+ cells expand 3.6‐ and 8.5‐fold more with one or two exposures to the hM‐CSF‐expressing vector, respectively, when compared to control cells. Likewise, LV‐hM‐CSF‐transduced CB CD34+ cells show significantly higher levels of monocytes. In addition, these cells produced high levels of hM‐CSF. Furthermore, they are able to differentiate into functional bone‐resorbing osteoclasts in vitro. However, osteoclast differentiation and bone resorption were blunted compared to control CD34+ cells receiving exogenous hM‐CSF. NSG mice engrafted with LV‐hM‐CSF‐transduced CB CD34+ cells have physiological levels of hM‐CSF production that result in an increase in the percentage of human monocytes in peripheral blood and bone marrow as well as in the spleen, lung and liver.ConclusionIn summary, ectopic production of human M‐CSF in CD34+ cells promotes cellular expansion and monocyte differentiation in vitro and in vivo and allows for the formation of functional osteoclasts, albeit at reduced levels, without an exogenous source of M‐CSF, in vitro.
The Moral Insignificance of Self‐consciousness
Authors: Shepherd Joshua 
Published: February 2017

AbstractIn this paper, I examine the claim that self‐consciousness is highly morally significant, such that the fact that an entity is self‐conscious generates strong moral reasons against harming or killing that entity. This claim is apparently very intuitive, but I argue it is false. I consider two ways to defend this claim: one indirect, the other direct. The best‐known arguments relevant to self‐consciousness's significance take the indirect route. I examine them and argue that (a) in various ways they depend on unwarranted assumptions about self‐consciousness's functional significance, and (b) once these assumptions are undermined, motivation for these arguments dissipates. I then consider the direct route to self‐consciousness's significance, which depends on claims that self‐consciousness has intrinsic value or final value. I argue what intrinsic or final value self‐consciousness possesses is not enough to generate strong moral reasons against harming or killing.
Medication Overuse Headache: Pathophysiological Insights from Structural and Functional Brain MRI Research
Authors: Schwedt Todd J. , Chong Catherine D. 
Published: February 2017

BackgroundResearch imaging of brain structure and function has helped to elucidate the pathophysiology of medication overuse headache (MOH).MethodsThis is a narrative review of imaging research studies that have investigated brain structural and functional alterations associated with MOH. Studies included in this review have investigated abnormal structure and function of pain processing regions in people with MOH, functional patterns that might predispose individuals to development of MOH, similarity of brain functional patterns in patients with MOH to those found in people with addiction, brain structure that could predict headache improvement following discontinuation of the overused medication, and changes in brain structure and function after discontinuation of medication overuse.Results and ConclusionsMOH is associated with atypical structure and function of brain regions responsible for pain processing as well as brain regions that are commonly implicated in addiction. Several studies have shown “normalization” of structure and function in pain processing regions following discontinuation of the overused medication and resolution of MOH. However, some of the abnormalities in regions also implicated in addiction tend to persist following discontinuation of the overused medication, suggesting that they are a brain trait that predisposes certain individuals to medication overuse and MOH.
Global Gleason grade groups in prostate cancer: concordance of biopsy and radical prostatectomy grades and predictors of upgrade and downgrade
Authors: Athanazio Daniel , Gotto Geoffrey , Shea‐Budgell Melissa , Yilmaz Asli , Trpkov Kiril 
Published: February 2017

AimsTo evaluate concordance, upgrades and downgrades from biopsy to prostatectomy, and associated clincopathological parameters, using the recently proposed Gleason grade groups/International Society of Urologic Pathology (ISUP) grades.Methods and resultsWe evaluated 2529 patients who underwent biopsy and prostatectomy in our institution from 2005 to 2014. A global grade group (GR)/Gleason score (GS) was used. Factors associated with GR1/GS ≤6 upgrades and GR2/GS3 + 4 downgrades were analysed by multivariable logistic regression. The final GR/GS was identical with the biopsy GR/GS in 59.3% of cases, with the highest concordance for GR2 and GR5 and lowest for GR4. In GR1–5, identical grades were found in GR: (i) 47.6%, (ii) 73.6%, (iii) 52.8%, (iv) 21.4% and (v) 68.3%, respectively. Final GR was upgraded in 32.3% cases; in GR1–4: (i) 52.4%, (ii) 19.0%, (iii) 16.4% and (iv) 32.9%. Most frequent upgrades occurred from biopsy GR1 to prostatectomy GR2. A final GR downgrade was found in 8.3% cases. For individual GR2–5 the downgrades were found in GR: (i) 7.4%, (ii) 30.8%, (iii) 45.7% and (iv) 31.7%. Upgrades of biopsy GR1 were associated with: age ≥60 years, PSA density ≥0.2, ≥2 positive cores, ≥5% core tissue involvement and perineural invasion [area under receiver operating characteristic (ROC) curve 0.699]. Downgrades of biopsy GR2 correlated inversely with: age ≥60 years, PSA >10 ng/ml and ≥2 positive core (area under ROC curve 0.623).ConclusionsWe found highest concordance for GR2 and GR5 and lowest for GR4. The baseline clinical variables associated with GR1 upgrades and GR2 downgrades may play a role in clinical decision‐making.
Coextinction dilemma in the Galápagos Islands: Can Darwin's finches and their native ectoparasites survive the control of the introduced fly Philornis downsi?
Authors: Bulgarella Mariana , Palma Ricardo L. 
Published: February 2017

Abstract

The survival of parasites is threatened directly by environmental alteration and indirectly by all the threats acting upon their hosts, facing coextinction.

The fate of Darwin's finches and their native ectoparasites in the Galápagos Islands is uncertain because of an introduced avian parasitic fly, Philornis downsi, which could potentially drive them to extinction.

We documented all known native ectoparasites of Darwin's finches. Thirteen species have been found: nine feather mites, three feather lice and one nest mite. No ticks or fleas have been recorded from them yet.

Management options being considered to control P. downsi include the use of the insecticide permethrin in bird nests which would not only kill the invasive fly larvae but the birds’ native ectoparasites too.

Parasites should be targeted for conservation in a manner equal to that of their hosts. We recommend steps to consider if permethrin‐treated cotton stations are to be deployed in the Galápagos archipelago to manage P. downsi.
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
Authors: Hu Pengzhi , Wu Song , Yuan Lamei , Lin Qiongfen , Zheng Wen , Xia Hong , Xu Hongbo , Guan Liping , Deng Hao 
Published: February 2017

AbstractMuscular dystrophy‐dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later‐onset limb‐girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha‐dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six‐generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p.H415Kfs*3) and c.1457G>C (p.W486S, rs746849558), in the protein O‐mannosyltransferase 1 gene (POMT1), were identified as the genetic cause. Patients that exhibited milder MDDG manifested as later‐onset progressive proximal pelvic, shoulder girdle and limb muscle weakness, joint contractures, mental retardation and elevated creatine kinase, without structural brain or ocular abnormalities, were further genetically diagnosed as MDDGC1. The POMT1 gene splice‐site mutation (c.1338+1G>A) which leads to exon 13 skipping and results in a truncated protein may contribute to a severe phenotype, while the allelic missense mutation (p.W486S) may reduce MDDG severity. These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease.
Institutional Path‐Dependencies in Europe's Networked Modes of Governance
Authors: Boeger Nina , Corkin Joseph 
Published: February 2017

AbstractWe consider whether transnational networks that softly discipline Member States (such as the OMC or regulatory networks that oversee national discretion in implementing broad EU frameworks) mark a significant turn in European integration or merely a transitional step towards centralization (agencification) and formalization (subjecting to law). We suggest this requires a closer reading of the institutional changes necessary to bring about centralization/formalization, and ask particularly whether change might be partially attributable to the very institutional‐agents operating inside Europe's networked modes of governance. Supplementing functional‐political explanations, we propose an endogenous model of institutional change that incorporates the independent role transnational networks play in shaping their own institutionalization, which may make this mode of governance more resilient and even self‐reinforcing. We test the plausibility of this model with a case‐study detailing the institutional entrepreneurship of transnational networks in the telecoms sector.