bluuebunny/crossref_metadata_2025_split huggingface dataset:
De novo damaging coding mutations are strongly associated with obsessive-compulsive disorder and overlap with autism
Authors: Cappi Carolina , Oliphant Melody E. , Péter Zsanett , Zai Gwyneth , Sullivan Catherine A. W. , Gupta Abha R. , Hoffman Ellen J. , Virdee Manmeet , Jeremy Willsey A. , Shavitt Roseli G. , Miguel Euripedes C. , Kennedy James L. , Richter Margaret A. , Fernandez Thomas V. 
Published: September 2017

ABSTRACTObsessive-compulsive disorder (OCD) is a debilitating developmental neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. We performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), finding strong evidence that de novo likely gene disrupting and predicted damaging missense variants contribute to OCD risk. Together, these de novo damaging variants are enriched in OCD probands (RR 1.52, p=0.0005). We identified two high-confidence risk genes, each containing two de novo damaging variants in unrelated probands:CHD8 (Chromodomain Helicase DNA Binding Protein 8)andSCUBE1 (Signal Peptide, CUB Domain And EGF Like Domain Containing 1). Based on our data, we estimate that 34% of de novo damaging variants seen in OCD contribute to risk, and that de novo damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring de novo damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly autism spectrum disorders. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways related to immune response.SIGNIFICANCE STATEMENTDecades of genetic studies in obsessive-compulsive disorder (OCD) have yet to provide reproducible, statistically significant findings. Following an approach that has led to tremendous success in gene discovery for several neuropsychiatric disorders, here we report findings from DNA whole-exome sequencing of patients with OCD and their parents. We find strong evidence for the contribution of spontaneous, or de novo, predicted-damaging genetic variants to OCD risk, identify two high-confidence risk genes, and detect significant overlap with genes previously identified in autism. These results change the status quo of OCD genetics by identifying novel OCD risk genes, clarifying the genetic landscape of OCD with respect to de novo variation, and suggesting underlying biological pathways that will improve our understanding of OCD biology.
Maternal depression and child behaviours: sex-dependent mediation by glucocorticoid receptor gene methylation in a longitudinal study from pregnancy to age 5 years
Authors: Hill Jonathan , Pickles Andrew , Wright Nicola , Quinn John P , Murgatroyd Chris , Sharp Helen 
Published: September 2017

ABSTRACTBackgroundEvolutionary hypotheses predict that male fetuses are more vulnerable to poor maternal conditions than females (Sex-biased Maternal Investment), but that the adaptive female fetus, with a more responsive hypothalamic-pituitary-adrenal (HPA) axis, is put at later risk of glucocorticoid mediated disorders where there is a mismatch between fetal and postnatal environments (Predictive Adaptive Response). Self-report measures of prenatal and postnatal depression and maternal report of child anxious depressed symptoms at 2.5, 3.5 and 5.0 years were obtained from an ‘extensive’ sample of first time mothers recruited from the general population (N = 794). SalivaryNR3C11-F promoter methylation was assayed at 14 months in an ‘intensive’ subsample (N = 176) stratified during pregnancy by psychosocial risk. Generalised structural equation models (SEM) were fitted and estimated by maximum likelihood to allow inclusion of participants from both intensive and extensive samples.ResultsPostnatal depression was associated withNR3C1methylation and with anxious-depressed symptoms in the daughters of mothers lacking the hypothesised protective effect of high prenatal depression (prenatal-postnatal depression interaction for methylation, p =.00001; for child symptoms, p = .011). In girls,NR3C1methylation mediated the association between maternal depression and child anxious-depressed symptoms. The effects were greater in girls than boys, and the test of the sex differences in the effect of the prenatal-postnatal depression interaction on both outcomes gave χ2(2) = 5.95 (p=.051).ConclusionsThis is the first study to show in humans that, as a result of sex-biased reproductive investment and fetal adaptation, epigenetic and early behavioural outcomes may arise through different mechanisms in males and females. Epigenetic effects at theNR3C1promoter mediated mismatch between prenatal and postnatal maternal conditions and child anxious-depressed symptoms, specifically in females.
Brief optogenetic inhibition of rat lateral or ventrolateral periaqueductal gray augments the acquisition of Pavlovian fear conditioning
Authors: Assareh Neda , Bagley Elena E. , Carrive Pascal , McNally Gavan P. 
Published: September 2017

AbstractThe midbrain periaqueductal gray (PAG) coordinates the expression and topography of defensive behaviors to threat and also plays an important role in Pavlovian fear learning itself. Whereas the role of PAG in expression of defensive behavior is well understood, the relationship between activity of PAG neurons and fear learning, the exact timing of PAG contributions to learning during the conditioning trial, and the contributions of different PAG columns to fear learning are poorly understood. We assessed the effects of optogenetic inhibition of lateral (LPAG) and ventrolateral (VLPAG) PAG neurons on fear learning. Using adenoassociated viral vectors expressing halorhodopsin (eNpHR3.0), we show that brief optogenetic inhibition of LPAG or VLPAG during delivery of the shock unconditioned stimulus (US) augments acquisition of contextual or cued fear conditioning and we also show that this inhibition augments post-encounter defensive responses to a non-noxious threat. Taken together, these results show that LPAG and VLPAG serve a key role in regulation of Pavlovian fear learning at the time of US delivery. These findings provide strong support for existing models which state that LPAG and VLPAG contribute to a fear prediction error signal determining variations in the effectiveness of the aversive US in supporting learning.
Systematic risk and deposit insurance pricing
Authors: Zhang Yaojie , Shi Benshan 
Published: September 2017

Purpose
The purpose of this paper is to alleviate the moral hazard problem created by deposit insurance and therefore develop a deposit insurance pricing model explicitly considering systematic risk.

Design/methodology/approach
Using the market model, the authors introduce the systematic risk component consisting of market risk and beta risk. A closed-form solution for the authors’ pricing model is derived based on the option pricing framework.

Findings
Compared with the authors’, the pricing model that ignores systematic risk underestimates deposit insurance premium, and cannot cover the excessive loss created by systematic risk. To examine the effect of the systematic risk component on the deposit insurance premiums estimated by the authors’ model, this paper also provides empirical evidence from China by regression analysis. The results demonstrate that, in addition to the individual failure risk, the systematic risk component is properly priced and explicitly reflected in the authors’ model.

Research limitations/implications
More risk factors such as liquidity risk should be introduced in the pricing of deposit insurance.

Practical implications
Deposit insurance premiums estimated by the authors’ model can alleviate the moral hazard problem that banks have an incentive to take on excessive systematic risk, because substantial higher insurance premiums would be charged in doing so.

Originality/value
Applying the option pricing theory and market model, this paper develops a deposit insurance pricing model with explicit consideration of systematic risk. The systematic risk component contains not only the market volatility but also the sensitivity of market risk.
What a difference a role makes
Authors: Nadiv Ronit , Raz Aviad , Kuna Shani 
Published: September 2017

Purpose
Based on the human resources (HR) role framework (Conner and Ulrich, 1996), the purpose of this paper is to empirically explore why HR practitioners differ in their strategic partner role positioning. The present study suggests and tests a descriptive model regarding occupational and organizational characteristics associated with strategic HR role positioning.

Design/methodology/approach
In all, 100 questionnaires were collected from Israeli HR practitioners. Hierarchical regressions were used to test the association between occupational and organizational characteristics and the strategic role perception among HR practitioners.

Findings
Although the findings only partially supported the suggested model, significant associations between occupational and organizational characteristics and HR strategic positioning were found. HR practitioners in volatile organizational environments adopt a strategic role perception. Moreover, years of experience are also associated with an HR strategic role perception. Specifically, the major predictors of attaining a strategic partner role amongst HR practitioners are location of organizational activities mainly in the metropolitan area, and involvement in major organizational changes.

Research limitations/implications
The sample had a positive bias of respondents. Questionnaires were delivered mainly to highly educated HR practitioners in notably professional HR departments. Data were based on self-reported one-time questionnaires.

Practical implications
The research has implications for the processes of academic education and professional training of HR practitioners and also their recruitment in organizations.

Originality/value
To the best of the authors’ knowledge, recent studies aimed at exploring sources of variance in the strategic role perception amongst HR practitioners are rather scarce. This research helps to address this gap, while also broadening the literature regarding HR communities in the Middle East.
Mentoring in international assignments: a personality traits perspective
Authors: Schuster Tassilo , Ambrosius Judith , Bader Benjamin 
Published: September 2017

PurposeThe purpose of this paper is to analyze the impact of personality and mentorship on expatriates’ psychological well-being. The authors argue that certain personality traits (extraversion, agreeableness, conscientiousness, emotional stability, and openness to experience) have positive effects on expatriates’ psychological well-being and that these personality traits enable them to derive a greater benefit from mentorship. By doing so, this study identifies for which personality traits which type of mentoring (home or host country mentor) is most beneficial.Design/methodology/approachBased on socioanalytic theory, the authors develop theory-driven hypotheses and test them against data of 334 expatriates.FindingsThe study shows that several personality traits as well as home country mentorship have a significant positive impact on psychological well-being, whereas host country mentorship shows no significant positive effects. Moreover, the study indicates that home and host country mentorship partially moderates the relationship between personality traits and psychological well-being.Originality/valueSince the authors derive important implications for the selection process of expatriates as well as for the implementation of mentoring in multinational corporations, this study is of value for researchers and practitioners in the areas of human resource management and organizational studies.
The impact of legislation on the internal audit function
Authors: Jones Kevin K. , Baskerville Richard L. , Sriram Ram S. , Ramesh Balasubramaniam 
Published: September 2017

PurposeThe purpose of this study is to show how the presence of change caused a shift in the roles and responsibilities of the internal audit function (IAF).Design/methodology/approachThe methodological design/approach was constructed by combining specific aspects of widely known management accounting and organizational change frameworks. The theoretical premise was based on the old institutional economics component of institutional theory. As such, this study used the case study method to examine and analyze the impact of this change in eight specific organizations using the new two-tiered organizational change framework.FindingsThis new framework analyzes the multidimensional facets of organizational change in the IAF. From the findings, it was observed that the change can be evolutionary, episodic, continuous and/or teleological, and people, organisms and organizations that are subject to it will react or respond to that change in a myriad of ways.Practical implicationsMoreover, the implications of change can be environmental, socioeconomic and political.Originality/valueThis study makes an intellectual contribution by introducing a new two-tiered organizational change framework to explain the IAF’s response to the environmental change factor of regulation.
The role of customers in co-creating m-services in the O2O model
Authors: Hsieh Jung-Kuei 
Published: September 2017

Purpose
The purpose of this paper is to investigate customer loyalty in the online-to-offline (O2O) model by conceptualizing and measuring emotion and cognition.

Design/methodology/approach
An online survey was used to collect 514 questionnaire responses. The data were analyzed using structural equation modeling.

Findings
Three emotional factors influence two cognitive factors, which in turn affect customer loyalty. The type of message source acts as a moderator. In addition to pleasure and arousal, dominance is a key factor of emotion. The effects of social enhancement and store environment on customer loyalty reflect the O2O model’s integration of online and offline environments.

Practical implications
The moderating role of the type of message source implies that marketers of brick-and-mortar stores can promote positive offline experiences to attract online customers and then encourage these customers to disseminate personal messages in their social circles. By attracting online customers through appealing m-services and retaining these customers through favorable store environments, marketers can maximize the utility of the O2O model.

Originality/value
Three emotional factors and two cognitive factors are conceptualized to predict customer loyalty in the O2O model. This study shows that the relationships between cognitive factors and customer loyalty are moderated by the type of message source. When check-in activity messages are sent by friends, the perception of social enhancement can lead to greater customer loyalty. In contrast, when check-in activity messages are sent by unfamiliar sources, customer loyalty is driven more by cognition of the store environment than by online interaction. The findings enrich existing knowledge of the O2O model and m-services, and have implications for researchers and marketers.
Using critical design to explore the future of libraries
Authors: Clarke Rachel Ivy 
Published: September 2017

Purpose
The purpose of this paper is to propose the use of critical design as an approach for considering the future of libraries.

Design/methodology/approach
This paper describes a specific instance of critical design: timeline of the far future of libraries.

Findings
Reflections on the critical design are presented.

Originality/value
This paper offers the first application of critical design in the context of librarianship.
Awareness about equity investment among retail investors: a kaleidoscopic view
Authors: Bhattacharjee Jayashree , Singh Ranjit 
Published: September 2017

Purpose
The purpose of this paper is to systematically review the literature published on the various aspects of awareness about equity investment. The paper highlights the major issues and aspects with respect to equity investment awareness. It also aims to raise specific questions for future research.

Design/methodology/approach
The study is based on secondary information collected primarily through the review of existing literature.

Findings
It is found that the important determinants of equity awareness are demographic, socio-economic and psychological factors. Financial well-being is attributable largely to financial awareness. Growth of the financial market can be credited to equity awareness. Equity awareness enables an investor to make better financial decisions, to appreciate their rights and responsibilities and to understand and manage the risk as an investor.

Practical implications
Policy makers can design the equity awareness campaign considering the different demographic and socio-economic factors. While designing such a campaign, the impact and importance of equity awareness should be illustrated, considering their demographic and socio-economic profile.

Originality/value
This study is the first one using the literature review method in the area of equity investment awareness, in particular, and financial awareness in general. This paper will be useful to researchers, academicians and those working in the area of equity investment awareness and in their understanding about the various aspects of awareness about equity investment. The paper is first of its kind, hence original in nature.
A patchwork pathway for oxygenase‐independent degradation of side chain containing steroids
Authors: Warnke Markus , Jacoby Christian , Jung Tobias , Agne Michael , Mergelsberg Mario , Starke Robert , Jehmlich Nico , von Bergen Martin , Richnow Hans‐Hermann , Brüls Thomas , Boll Matthias 
Published: September 2017

SummaryThe denitrifying betaproteobacterium Sterolibacterium denitrificans serves as model organism for studying the oxygen‐independent degradation of cholesterol. Here, we demonstrate its capability of degrading various globally abundant side chain containing zoo‐, phyto‐ and mycosterols. We provide the complete genome that empowered an integrated genomics/proteomics/metabolomics approach, accompanied by the characterization of a characteristic enzyme of steroid side chain degradation. The results indicate that individual molybdopterin‐containing steroid dehydrogenases are involved in C25‐hydroxylations of steroids with different isoprenoid side chains, followed by the unusual conversion to C26‐oic acids. Side chain degradation to androsta‐1,4‐diene‐3,17‐dione (ADD) via aldolytic C–C bond cleavages involves acyl‐CoA synthetases/dehydrogenases specific for the respective 26‐, 24‐ and 22‐oic acids/‐oyl‐CoAs and promiscuous MaoC‐like enoyl‐CoA hydratases, aldolases and aldehyde dehydrogenases. Degradation of rings A and B depends on gene products uniquely found in anaerobic steroid degraders, which after hydrolytic cleavage of ring A, again involves CoA‐ester intermediates. The degradation of the remaining CD rings via hydrolytic cleavage appears to be highly similar in aerobic and anaerobic bacteria. Anaerobic cholesterol degradation employs a composite repertoire of more than 40 genes partially known from aerobic degradation in gammaproteobacteria/actinobacteria, supplemented by unique genes that are required to circumvent oxygenase‐dependent reactions.
Pressure and traction on a model fetal head and neck associated with the use of forceps, Kiwi™ ventouse and the BD Odon Device™ in operative vaginal birth: a simulation study
Authors: O'Brien SM , Winter C , Burden CA , Boulvain M , Draycott TJ , Crofts JF 
Published: September 2017

ObjectiveTo determine the pressure and traction forces exerted on a model fetal head by the BD Odon Device, forceps and Kiwi ventouse during simulated births.DesignSimulation study.SettingSimulated operative vaginal birth.Population or sampleEighty‐four simulated operative vaginal births.MethodsA bespoke fetal mannequin with pressure sensors around the head and strain gauge across the neck was used to investigate pressure applied over the head, and traction across the neck during 84 simulated births using the BD Odon Device, non‐rotational forceps and Kiwi ventouse.Main outcome measuresPeak pressure on the fetal face and lateral aspects of the head during correct use of the BD Odon Device and forceps. Peak pressure on orbits and neck during misplacement of the BD Odon Device and forceps. Peak traction force generated until instrument failure using the BD Odon Device, forceps and Kiwi ventouse.ResultsWhen correctly sited and using 80 kPa inflation pressure on the cuff, the BD Odon Device generated a lower peak pressure on the fetal head than forceps (83 versus 146 kPa). When instruments were purposefully misplaced over the orbits, the BD Odon Device generated a lower peak pressure on the orbits compared with forceps (70 versus 123 kPa). When purposefully misplaced over the neck, the BD Odon Device, compared with forceps, generated a greater peak pressure on the anterio‐lateral aspect of the neck (56 versus 17 kPa) and a lower peak pressure on the posterior aspect of the neck (76 versus 93 kPa) than forceps. In cases of true cephalic disproportion, the BD Odon Device ‘popped‐off’ at a lower traction force than did forceps (208 versus 270 N).ConclusionsIn simulated assisted vaginal birth with correctly placed instruments, the peak pressure exerted on the fetal head by a BD Odon Device is lower than the pressure exerted by non‐rotational forceps. In cases in which delivery of the fetal head is not possible due to cephalo‐pelvic disproportion, lower traction forces could be applied using the BD Odon Device than with forceps before the procedure was abandoned due to device failure.Tweetable abstractBD Odon Device exerts less pressure on a model fetal head than forceps, but more than Kiwi ventouse.
Renal involvement in primary Sjögren's syndrome: A retrospective study of 103 biopsy‐proven cases from a single center in China
Authors: Yang Hua‐Xia , Wang Jing , Wen Yu‐Bing , Fei Yun‐Yun , Jiang Meng‐Di , Zhou Meng‐yu , Zhang Wen , Li Hang , Li Xue‐Mei , Zhang Feng‐Chun , Li Xue‐Wang , Zhang Xuan , Chen Li‐Meng 
Published: September 2017

AbstractAimTo retrospectively investigate the features of renal involvements in patients with primary Sjögren's syndrome (pSS) with biopsy results.MethodsA total of 2096 pSS inpatients at Peking Union Medical College Hospital in China from 2005 to 2015 were identified. Patients with biopsy‐proven renal involvement (SS‐renal) and matched controls (SS‐only) were recruited. The clinical and pathologic features as well as treatments and outcomes were systematically analyzed.ResultsOne hundred and three pSS nephritis (inpatients had biopsy‐proven renal involvement. Tubulointerstitial 53, 51.5%) was the prominent pathologic pattern with glomerulonephritis (GN) present in 50 (48.5%) of the renal lesions. The patterns of GN lesions included membranous nephropathy (37, 35.9%), mesangial proliferative glomerulonephritis (six, 5.8%) or immunoglobulin A nephropathy (three, 2.9%), minimal change disease (four, 3.9%) and focal segmental glomerulosclerosis (three, 2.9%). Compared to SS‐only patients, SS‐renal patients had fewer dry eyes and positive objective xerostomia (P < 0.05). They presented with a significantly lower incidence of interstitial lung disease (ILD), leukocytopenia and elevated immunoglobulin G levels (P < 0.05). They received a larger initial dosage of corticosteroid and had a higher mortality rate (P < 0.05).ConclusionThis Chinese SS‐renal population with biopsy results has diverse pathologic patterns and distinct clinical features. They are characterized with prominent renal‐associated and mild SS‐associated features. They received more vigorous treatment but had poorer prognosis.