bluuebunny/crossref_metadata_2025 huggingface dataset:
Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index
Authors: Hui Daniel , Xiao Brenda , Dikilitas Ozan , Freimuth Robert R. , Irvin Marguerite R. , Jarvik Gail P. , Kottyan Leah , Kullo Iftikhar , Limdi Nita A. , Liu Cong , Luo Yuan , Namjou Bahram , Puckelwartz Megan J. , Schaid Daniel , Tiwari Hemant , Wei Wei-Qi , Verma Shefali , Kim Dokyoon , Ritchie Marylyn D.
Published: May 2022

Polygenic risk scores (PRS) have led to enthusiasm for precision medicine. However, it is well documented that PRS do not generalize across groups differing in ancestry or sample characteristics e.g., age. Quantifying performance of PRS across different groups of study participants, using genome-wide association study (GWAS) summary statistics from multiple ancestry groups and sample sizes, and using different linkage disequilibrium (LD) reference panels may clarify factors limiting PRS transferability. To evaluate these factors in the PRS generation process, we generated body mass index (BMI) PRS (PRSBMI) in the Electronic Medical Records and Genomics network (N=75,661). Analyses were conducted in two ancestry groups (European and African) and three age ranges (adult, teenagers, and children). For PRSBMI calculations, we evaluated five LD reference panels and three GWAS summary statistics of varying sample size and ancestry. PRSBMI performance increased for both African and European ancestry individuals using cross-ancestry GWAS summary statistics compared to European-only summary statistics (6.3% and 3.7% relative R2 increase, respectively, pAfrican=0.038, pEuropean=6.26×10−4). The effects of LD reference panels were more pronounced in African ancestry study datasets. PRSBMI performance degraded in children; R2 was less than half of teenagers or adults. The effect of GWAS summary statistics sample size was small when modeled with the other factors. We also explored clinical comorbidities associated with the PRSBMI and identified associations with type 2 diabetes and coronary atherosclerosis. This study quantifies effects that ancestry, GWAS summary statistic sample size, and LD reference panel have on PRS performance, especially in cross-ancestry and age-specific analyses.
A Model-Based Strategy on COVID-19 Vaccine Roll-out in the Philippines
Authors: Escosio Rey Audie S. , Cawiding Olive R. , Hernandez Bryan S. , Mendoza Renier G. , Mendoza Victoria May P. , Mohammad Rhudaina Z. , Pilar-Arceo Carlene P.C. , Salonga Pamela Kim N. , Suarez Fatima Lois E. , Sy Polly W. , Vergara Thomas Herald M. , de los Reyes V Aurelio A.
Published: May 2022

Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2. Millions of people have fallen sick, and some have died due to this affliction that has spread across the globe. The current pandemic has disrupted normal day-to-day human life, causing a profound social and economic burden. Vaccination is an important control measure that could significantly reduce the incidence of cases and mortality if properly and efficiently distributed. In this work, an age-structured model of COVID-19 transmission, incorporating an unreported infectious compartment, is developed. Three age groups are considered, namely:young(0-19 years),adult(20-64 years), andelderly(65+ years). The transmission and reporting rates are determined for each group by utilizing the number of COVID-19 cases in the National Capital Region in the Philippines. Optimal control theory is employed to identify the best vaccine allocation to different age groups. Further, three different vaccination periods are considered to reflect phases of vaccination priority groups: the first, second, and third account for the inoculation of the elderly, adult and elderly, and all three age groups, respectively. This study could guide in making informed decisions in mitigating a population-structured disease transmission under limited resources.
Emotional dysregulation in childhood and disordered eating and self-harm in adolescence: Prospective associations and mediating pathways
Authors: Warne Naomi , Heron Jon , Mars Becky , Solmi Francesca , Biddle Lucy , Gunnell David , Hammerton Gemma , Moran Paul , Munafò Marcus , Penton-Voak Ian , Skinner Andy , Stewart Anne , Bould Helen
Published: May 2022

Background

Emotional dysregulation may be a risk factor for disordered eating and self-harm in young people, but few prospective studies have assessed these associations long-term, or considered potential mediators. We examined prospective relationships between childhood emotional dysregulation and disordered eating and self-harm in adolescence; and social cognition, emotional recognition and being bullied as mediators.

Methods

We analysed Avon Longitudinal Study of Parents and Children data on 3453 males and 3481 females. We examined associations between emotional dysregulation at 7 years and any disordered eating and any self-harm at 16 years with probit regression models. We also assessed whether social cognition (7 years), emotional recognition (8 years) and bullying victimisation (11 years) mediated these relationships.

Results

Emotional dysregulation at age 7 years was associated with disordered eating (fully adjusted probit B (95% CI) = 0.082 (0.029, 0.134)) and self-harm (fully adjusted probit B (95% CI) = 0.093 (0.036, 0.150)) at age 16 years. There was no evidence of sex interactions or difference in effects between self-harm and disordered eating. Mediation models found social cognition was a key pathway to disordered eating (females 51.2%; males 27.0% of total effect) and self-harm (females 15.7%; males 10.8% of total effect). Bullying victimisation was an important pathway to disordered eating (females 17.1%; males 10.0% of total effect), but only to self-harm in females (15.7% of total effect). Indirect effects were stronger for disordered eating than self-harm.

Conclusions

In males and females, emotional dysregulation in early childhood is associated with disordered eating and self-harm in adolescence and may be a useful target for prevention and treatment. Mediating pathways appeared to differ by sex and outcome, but social cognition was a key mediating pathway for both disordered eating and self-harm.
Lower risks of new-onset acute pancreatitis and pancreatic cancer in sodium glucose cotransporter 2 (SGLT2) inhibitors compared to dipeptidyl peptidase-4 (DPP4) inhibitors: a propensity score-matched study with competing risk analysis
Authors: Chou Oscar Hou In , Zhou Jiandong , Mui Jonathan V , Satti Danish Iltaf , Lee Teddy Tai Loy , Lee Sharen , Dee Edward Christopher , Ng Kenrick , Zhang Qingpeng , Cheung Bernard Man Yung , Jing Fengshi , Tse Gary
Published: May 2022

Background

Dipeptidyl peptidase-4 inhibitors (DPP4I) may be associated with higher risks of acute pancreatitis and pancreatic cancer. This study compared the risks of acute pancreatitis and pancreatic cancer between sodium glucose cotransporter 2 inhibitors (SGLT2I) and DPP4I users.

Methods

This was a retrospective population-based cohort study of patients with type-2 diabetes mellitus on either SGLT2I or DPP4I between January 1st 2015 and December 31st 2020 in Hong Kong. The primary outcome was new-onset acute pancreatitis and pancreatic cancer. Propensity score matching (1:1 ratio) using the nearest neighbour search was performed. Univariable and multivariable Cox regressions were applied to identify significant predictors.

Results

This cohort included 31609 T2DM patients (median age: 67.4 years old [SD: 12.5]; 53.36% males). 6479 patients (20.49%) used SGLT2I, and 25130 patients (70.50%) used DPP4I. After matching, the incidence of acute pancreatitis was significantly lower in SGLT2I users (incidence rate, IR: 0.6; 95% confidence interval, CI: 0.2-1.4) than in DPP4I (IR: 2.1; CI: 1.3-3.0). The incidence of pancreatic cancer was also lower among SGLT2I users (IR: 1.4; 95% CI: 0.7-2.6 vs. 3.6; 95% CI: 2.6-4.9). SGLT2I was associated with lower risks of acute pancreatitis (hazard ratio, HR: 0.11; 95% CI: 0.02-0.51; P=0.0017) and pancreatic cancer (HR: 0.22; 95% CI: 0.039-0.378; P=0.0003) after adjustments. The results were consistent in the competing risk models and the different matching approaches.

Conclusions

SGLT2I may be associated with lower risks of new-onset acute pancreatitis and pancreatic cancer after matching and adjustments, underscoring the need for further evaluation in the prospective setting.

Key messages

What is already known on this topic

T2DM was associated with higher risks of pancreatic cancer. Meanwhile, second-line anti-diabetic drugs were suggested to reduce the risks of pancreatic cancer, although DPP4I was suggested to be associated with acute pancreatitis.

What this study adds

SGLT2I was associated with an 89% lower risk of acute pancreatitis and 78% lower risk of pancreatic cancer than DPP4I users.

How this study might affect research, practice or policy

The findings of this study may influence the choice of second-line antidiabetic therapy in T2DM patients in terms of the pancreatic safety profile. This study may inspire more studies on the long-term cancer benefits of SGLT2I.
A pharmacoepidemiological study of myocarditis and pericarditis following mRNA COVID-19 vaccination in Europe
Authors: Tome Joana , Cowan Logan T. , Fung Isaac Chun-Hai
Published: May 2022

Purpose

To assess myocarditis and pericarditis reporting rate as adverse drug reactions (ADRs) for the messenger ribonucleic acid (mRNA) coronavirus disease 2019 (COVID-19) vaccines authorized in Europe.

Methods

Data on myocarditis and pericarditis related to mRNA COVID-19 vaccines (period: January 1, 2021 - February 11, 2022) were collected from the EudraVigilance database and combined with the European Centre for Disease Prevention and Control’s (ECDC) vaccination tracker database. The reporting rate was expressed as 1 million individual vaccinated-days with a corresponding 95% confidence interval (CI), and an observed-to-expected (OE) analysis was performed to check if there was an excess risk for myocarditis or pericarditis following mRNA COVID-19 vaccination.

Results

The reporting rate of myocarditis per 1 million individual vaccinated-days in the study period was 17.27 (95% CI, 16.34-18.26) for the CX-024414 vaccine and 8.44 (95% CI, 8.18-8.70) for TOZINAMERAN vaccine. The reporting rate for pericarditis per 1 million individual vaccinated-days in the study period was 9.76 (95% CI, 9.06-10.51) for the CX-024414 vaccine and 5.79 (95% CI, 5.56-6.01) for TOZINAMERAN vaccine. The OE analysis showed that both vaccines produced a myocarditis standardized morbidity ratio (SMR) greater than 1, with the CX-024414 vaccine having a greater SMR than TOZINAMERAN. Regarding TOZINAMERAN, SMR for pericarditis was greater than 1 when considering the lowest background incidence, but smaller than 1 when considering the highest background incidence.

Conclusions

Our results suggest an excess risk of myocarditis following the first dose of mRNA COVID-19 vaccine, but the relationship between pericarditis and mRNA COVID-19 vaccine remains unclear.
Impact of the aryl hydrocarbon receptor on Aurora A kinase and the G2/M phase pathway in hematopoietic stem and progenitor cells
Authors: Franchini Anthony M. , Vaughan Keegan , Bhattacharya Soumyaroop , Singh Kameshwar , Gasiewicz Thomas A. , Lawrence B. Paige
Published: May 2022

Recent evidence suggests that the environment-sensing transcription factor aryl hydrocarbon receptor (AHR) is an important regulator of hematopoiesis. Yet, the mechanisms and extent of AHR-mediated regulation within the most primitive hematopoietic cells, hematopoietic stem and progenitor cells (HSPCs), are poorly understood. Through a combination of transcriptomic and flow cytometric approaches, this study provides new insight into how the AHR influences HSPCs. Comparative analysis of intraphenotypic transcriptomes of hematopoietic stem cells (HSCs) and multipotent progenitor (MPP) cells from AHR knockout (AHR KO) and wild-type (WT) mice revealed significant differences in gene expression patterns. Notable among these were differences in expression of cell cycle regulators, specifically an enrichment of G2/M checkpoint genes when Ahr was absent. This included the regulator Aurora A kinase (Aurka, AurA). Interrogation of AurA protein levels in HSPC subsets using flow cytometry, in combination with inducible AHR KO or in vivo AHR antagonism showed that attenuation of AHR increased levels of AurA in HSCs and lineage-biased MPP cells. Overall, these data highlight a potential novel mechanism by which AHR controls HSC homeostasis and HSPC differentiation. These findings advance the understanding of how AHR influences and regulates primitive hematopoiesis.

Highlights (max 85 characters)

AHR alters gene expression during HSC-MPP transition.

Transcriptomic analysis shows AHR regulation of key G2/M phase regulators

Inducible AHR KO mice show increased AurA levels in HSPC populations

Acute antagonism of AHR increased AurA levels across multiple HSPC populations
Integrating proteomic data with metabolic modelling provides insight into key pathways ofBordetella pertussisbiofilms
Authors: Suyama Hiroki , Luu Laurence Don Wai , Zhong Ling , Raftery Mark J. , Lan Ruiting
Published: May 2022

Pertussis, commonly known as whooping cough is a severe respiratory disease caused by the bacterium,Bordetella pertussis. Despite widespread vaccination, pertussis resurgence has been observed globally. The development of the current acellular vaccine (ACV) has been based on planktonic studies. However, recent studies have shown thatB. pertussisreadily forms biofilms. A better understanding ofB. pertussisbiofilms is important for developing novel vaccines that can target all aspects ofB. pertussisinfection. This study compared the proteomic expression of biofilm and planktonicB. pertussiscells to identify key changes between the conditions. Major differences were identified in virulence factors including an upregulation of toxins (adenylate cyclase toxin and dermonecrotic toxin) and downregulation of pertactin and type III secretion system proteins in biofilm cells. To further dissect metabolic pathways that are altered during the biofilm lifestyle, the proteomic data was then incorporated into a genome scale metabolic model using the integrative metabolic analysis tool (iMAT). The analysis revealed that planktonic cells utilised the glyoxylate shunt while biofilm cells completed the full tricarboxylic acid cycle. Differences in processing aspartate, arginine and alanine were identified as well as unique export of valine out of biofilm cells which may have a role in inter-bacterial communication and regulation. Finally, increased polyhydroxybutyrate accumulation and superoxide dismutase activity in biofilm cells may contribute to increased persistence during infection. Taken together, this study modelled major proteomic and metabolic changes that occur in biofilm cells which helps lay the groundwork for further understandingB. pertussispathogenesis.
Drosophila insulator proteins exhibit in-vivo liquid-liquid phase separation properties
Authors: Amankwaa Bright , Schoborg Todd , Labrador Mariano
Published: May 2022

Mounting evidence implicates liquid-liquid phase separation (LLPS), the condensation of biomolecules into liquid-like droplets in the formation and dissolution of membraneless intracellular organelles (MLOs). Eukaryotic cells utilize MLOs or condensates for various biological processes, including emergency signaling, spatiotemporal control over steady-state biochemical reactions and heterochromatin formation. Insulator proteins function as architectural elements involved in establishing independent domains of transcriptional activity within eukaryotic genomes. In Drosophila, insulator proteins coalesce to form nuclear foci known as insulator bodies in response to osmotic stress and during apoptosis. However, the mechanism through which insulator proteins assemble into bodies and whether these bodies confer any genome function are yet to be fully investigated. Here, we identify signatures of liquid-liquid phase separation by insulator bodies, including high disorder tendency in insulator proteins, scaffold-client dependent assembly, extensive fusion behavior, sphericity, and sensitivity to 1,6-hexanediol. We also show that the cohesin subunit Rad21 is a component of insulator bodies adding to the known insulator proteins and the histone variant γH2Av constituents. Our data suggest a concerted role of cohesin and insulator proteins in insulator body formation and under physiological conditions. We propose a mechanism whereby these architectural proteins modulate 3D genome organization through LLPS.
Development of a Novel SARS-CoV-2 Immune Complex Vaccine Candidate (CRCx) with Broad Immune Responses: A Preclinical Trial in Animal Model
Authors: Salah Sherif , Mubarki Abdula , Zayed Khalid , Omar Khaled
Published: May 2022

Background

The ongoing pandemic of COVID-19, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), poses a serious threat to global public health and imposes a severe burden on the entire human population. Faced with a virus that can mutate its structure while immunity is incapacitated, a need to develop a universal vaccine that can boost immunity to coronaviruses is highly needed.

Design

Five formulations of two types (CRCx2 and CRCx3) of immune complexes with an immunogen adjuvant were evaluated in a mouse model as candidate SARS CoV-2 vaccines in a pretrial prior to clinical trials in humans. CRCx3 comprises 3 different formulas and CRCx2 comprises 2. Balb/c mice were vaccinated intraperitoneally on days 0/7 with a high or low dose of CRCx2 or on days 0/7/14 with a high, medium, or low dose of CRCx3 series, and their blood was sampled for serum antibody measurements. Mice were challenged with live virus after immunization with either vaccine to evaluate prophylaxis ability or treated with them after challenge to evaluate therapeutic ability on day 15. Immunological markers and histopathological studies as well as titration of neutralizing antibodies to the vaccines were evaluated and analyzed.

Results

CRCx 3 and CRCx 2 vaccine candidates induced elevated levels of positive neutralizing antibodies as well as a cellular immune response with safety, efficient productivity, and good genetic stability for vaccine manufacturing to provide protection against SARS-CoV-2 with relatively higher levels with the high dose CRCx2 candidate combination.

Conclusions

Highly efficient protection and therapeutic effect against SARS-CoV-2 were obtained with a double-dose immunization schedule spaced at 7-day intervals using injections 0.25 of or 0.40 ml of CRCx2 vaccine formulations with a 25-mm needle. These results support further evaluation of CRCx in a clinical trial on humans.
SMALL NONCODING RNA CONTENTS OF RAT EPIDIDYMAL EXTRACELLULAR VESICLES INCLUDING A PUTATIVE NOVEL SMALL RNA
Authors: Gillette Ross , Waghwala Shyamal , Gore Andrea C.
Published: May 2022

Abstract

Extracellular vesicles (EVs) released from the epididymal epithelium (epididymosomes) impart functional competence on sperm as they transit the epididymis by merging with sperm and releasing a complex repertoire of molecules. The cargo of epididymosomes includes small noncoding RNAs (sncRNAs) that are modified by external factors such as stress, nutrition, and drug use. If incorporated into sperm, the EV sncRNA cargo can affect offspring and lead to heritable phenotypes. In the current study we characterized the RNA contents of EVs collected from the caput epididymis of adult male rats in order to fill a gap in knowledge in this species and to establish a sncRNA profile. Small RNAs of EVs were isolated from the caput portion of the epididymis of adult male rats, and sequenced on a NovaSeq 6000 on a SP flow cell in a single-end 50 bp configuration. The resulting reads were checked for quality, trimmed for adapter sequences, aligned to the unmasked rat genome (Rnor 6), and assigned an annotation designation. The majority of RNA reads aligned to either tRNA fragments (79.1%) or piRNA (18.1%) loci. Micro RNAs (miRNAs) accounted for a surprisingly small proportion of reads (0.18%). The third largest category of aligned reads (1.5%) was in intergenic space and not strictly associated with canonical sncRNA loci. In-depth investigation determined these latter reads (∼19 nt) aligned strictly within the boundaries of known CpG islands (CpGi), which have not previously been reported to express any form of sncRNA. These newly described “CpGi sRNAs” could not consistently be accounted for by overlaying features of any other annotation type (including rRNA and piRNA). The CpGi sRNAs have characteristics of RNA fragments that can associate with the Argonaute/PIWI family of proteins and therefore could have regulatory function via RNA induced silencing or de novo DNA methylation. We propose that CpGi sRNAs constitute a new family of sncRNA that may represent an important and unreported class of regulatory RNA in gametes.
Influence of amino acids and glucosinolates in three Brassicaceae vegetable plants on preference and performance of the green peach aphid: Myzus persicae
Authors: Ahmed Muhammad Afaq , Ban Ning , Hussain Sarfaraz , Batool Raufa , Liu Tong-Xian , Zhang Yong-Jun , Cao He-He
Published: May 2022

The green peach aphid, Myzus persicae (Sulzer) is a generalist pest of various host plants, whose feeding preference and growth performance mainly depends on the quantity and quality of nutrients and defensive metabolites in host plants. Here, we studied the preference and performance of M. persicae on three major Brassicaceae vegetables in China and measured nutrient (amino acids) and defensive (glucosinolates) metabolites in these plants. We found that M. persicae preferred and performed better on Chinese cabbage than cabbage and radish, which may be due to the relatively higher concentration of amino acids and lower levels of glucosinolates in their leaves. The glucosinolates level in cabbage leaves was ten times higher than the other two plants, while the amino acid concentration in radish was only half of the cabbage or Chinese cabbage. The higher concentration of glucosinolates in cabbage and lower levels of amino acids in radish may account for the poorer preference and growth of M. persicae on these two plants. These results suggest that both amino acids and glucosinolates in plants are important determinants of the preference and performance of M. persicae, which provide new knowledge for the cultivation and breeding of Brassicaceae vegetables.
Sucrose metabolism and candidate genes during catkin fibers development in poplar
Authors: Yang Xiong , Zhao Tianyun , Rao Pian , Yang Ning , Li Guolei , Jia Liming , An Xinmin , Chen Zhong
Published: May 2022

Poplar is an important tree species for ecological protection, wood production, bioenergy and urban greening; it has been widely planted worldwide. However, the catkin fibers produced by female poplars can cause environmental pollution and safety hazards during spring. This study focused onPopulus tomentosa, and revealed the sucrose metabolism regulatory mechanism of catkin fibers development from morphological, physiological and molecular aspects. Paraffin section suggested that poplar catkin fibers were not seed hairs and produced from the epidermal cells of funicle and placenta. Sucrose degradation via invertase and sucrose synthase played the dominant role during poplar catkin fibers development. The expression patterns revealed that sucrose metabolism-related genes played important roles during catkin fibers development. Y1H analysis indicated that there was a potential interaction betweensucrose synthase 2 (PtoSUS2)/vacuolar invertase 3 (PtoVIN3)and MYB/ bHLH transcription factors in poplar. Finally, the two key genes,PtoSUS2andPtoVIN3, had roles inArabidopsistrichome density, indicating that sucrose metabolism is important in poplar catkin fibers development. This study is not only helpful for clarifying the mechanism of sucrose regulation during trichome development in perennial woody plants, but also establishes a foundation to solve poplar catkin fibers pollution through genetic engineering methods.

Highlight

Sucrose degradation via invertase and sucrose synthase plays an important role in poplar catkin fibers development, andPtoSUS2andPtoVIN3are potential promising targets to solve poplar catkin fibers pollution.
Secretoglobin family 1D member 2 (SCGB1D2) protein inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease
Authors: Strausz Satu , Blacker Grace , Galloway Sarah , Hansen Paige , Jones Samuel E. , Sanders Erin , Sinnott-Armstrong Nasa , FinnGen  , Weissman Irving L. , Daly Mark , Aivelo Tuomas , Tal Michal Caspi , Ollila Hanna M.
Published: May 2022

Lyme disease is a tick-borne disease caused by bacteria of the genus Borrelia. The disease can initially manifest as an erythema migrans rash and, if able to evade the host immune defenses, can progress into a secondary stage chronic disease with debilitating physical or neurological manifestations1,2. The host factors that modulate susceptibility for Lyme disease have remained mostly unknown. Here we show a novel host defense mechanism against Lyme disease in humans. Using epidemiological and genetic data from FinnGen, we identify a common missense variant at the gene encoding for Secretoglobin family 1D member 2 (SCGB1D2) protein that increases the susceptibility for Lyme disease. The genetic variant changes proline at position 53 to leucine and is predicted as deleterious. Consequently, we validate the dysfunction of this protein variant using live Borrelia burgdorferi (Bb). Recombinant reference SCGB1D2 protein inhibits the growth of Bb twice as effectively as the recombinant SCGB1D2 P53L deleterious missense variant. Together, these data suggest that SCGB1D2 is a host defense factor present in the skin, sweat, and other secretions which protects against Bb infection. This finding provides a novel therapeutic avenue for drug development to prevent and treat Lyme disease.
Affinity-optimizing variants within the ZRS enhancer disrupt limb development
Authors: Lim Fabian , Ryan Genevieve E , Le Sophia H , Solvason Joe J , Steffen Paige , Farley Emma K
Published: May 2022

An emerging regulatory principle governing enhancers is the use of suboptimal affinity binding sites to encode tissue-specific gene expression. Here we investigate if optimizing single-nucleotide variants that violate this principle can disrupt tissue-specific gene expression and development. The ZRS enhancer mediates expression of Shh in the posterior of the developing limb buds and is critical for limb and digit development. We find that the ZRS contains suboptimal-affinity ETS binding sites. Two human mutations and a synthetic mutation that optimize the affinity of the ETS-A site from 0.15 to 0.25 relative binding affinity cause polydactyly with the same penetrance and severity. Further increasing the affinity of the ETS-A site results in more penetrant and severe phenotypes. The prevalent use of suboptimal affinity binding sites within enhancers to encode tissue-specificity creates a vulnerability within genomes whereby variants that optimize affinity, even subtly, can be pathogenic. This provides a generalizable approach to identify causal variants that underlie enhanceropathies.

In Brief

Subtle increases in low-affinity sites underlie human limb defects, while greater increases in affinity lead to more severe and penetrant phenotypes.

Highlights

Prediction and validation of pathogenic enhancer variants

Very subtle increases in affinity of low-affinity sites are pathogenic

Penetrance and severity of phenotype scales with increase in affinity
Effect of colours on sponsor recall
Authors: Toh Brendon , Leng Ho Keat , Phua Yi Xian Philip
Published: May 2022

Purpose

As sports sponsorship is a common marketing tool among commercial organisations, there had been a large number of studies examining the effectiveness of sponsorship. The aim of this study is to examine whether colour affects sponsorship effectiveness on printed advertisements of sports events. This is an area that has received less research interest.

Design/methodology/approach

In total, 85 participants were randomly assigned to a control group and three experimental groups. In each of the groups, the participants viewed an advertisement of a sports event on a computer linked to an eye tracker. In the control group, the logos of sponsors were in their original colours. In each of the three experimental groups, the logos were manipulated and featured greyscale, blue or red backgrounds.

Findings

The study found that sponsor recall and recognition rates were highest for the control group. Visual attention was also the highest in the control group.

Research limitations/implications

The findings suggest that manipulating colours of the sponsors' logos can negatively affect attention and sponsorship effectiveness.

Originality/value

While there exist studies that focus on the effects of colour in sponsorship, they are typically conducted with regard to physically attending the event itself. However, sponsorship involves other marketing collaterals such as printed advertisements on the event. In such mediums, colour contrast is also important in print advertisements as it affects readability and legibility. As such, the examination of effect of colour on such marketing collaterals provides additional empirical support to the phenomenon.
Multi-coil design for a coaxial double-cylinder head MRI scanner
Authors: Xuan Liang , Xu Zheng
Published: May 2022

Purpose

Gradient coils designed by conventional target field methods usually have a complex physical structure and these methods are not convergent for complex routing area problems. This study aims to design a multi-coil (MC) gradient system arranged on a complex routing area including two cylindrical surfaces with different radii for a head magnetic resonance imaging scanner.

Design/methodology/approach

A MC system model is established. In this model, the sub-coils are evenly distributed on two cylindrical wiring surfaces, and the radii of coils are the same on one cylindrical surface. With the target magnetic field set, the currents in every individual coil are solved by constrained least-squares fitting based on the Levenberg–Marquardt method.

Findings

The magnetic field nonlinearity generated by designed coils is validated as 4.50% and 3.57% for X-gradient coil and Z-gradient coil, respectively, which satisfy the mainstream nonlinearity standards. The analysis of the optimization results indicates that hardware requirements can be considerably reduced by connecting coils with the same currents in series.

Originality/value

High-linearity gradient magnetic fields are generated on complex routing areas by adopting the MC structure. In addition, the requirements for current sources and amplifiers are considerably reduced.
Intelligent series inducing switching scheme (ISISS) to enhance power delivery in shaded photovoltaic array
Authors: Vadivel Srinivasan , C.S. Boopathi , R. Sridhar , Kaovasia Tarana
Published: May 2022

Purpose

The aim of this research study is to mitigate shading impact on solar photovoltaic array. Photovoltaic (PV) array when getting shaded not only results in appreciable power loss but also exhibits multiple power peaks. Due to these multiple power peaks, the maximum power point tracking (MPPT) controllers’ performance will be affected, as most of the times it ends up in tracking the local maximum power peak and not the global power peak.

Design/methodology/approach

The PV panels in an PV array when getting shaded even partially would result in huge power loss. The pattern of shading also plays a crucial role, as it renders a cascaded impact on the overall power output because the cells/panels are connected in series and are parallel. Therefore, during shading, intelligent schemes are needed to appropriately connect and discard the unhealthy and healthy panels in right place with right combination. This research proposes one such scheme to mitigate the shading impact.

Findings

To mitigate the shading impact and also to have a smooth power-voltage (P-V) curve, a new series inducing switching scheme is introduced. The proposed scheme not only mitigates the shading impact and enhances the output power but also smoothens the P-V curve that facilitates the MPPTs to track the P-V appropriately.

Originality/value

The research findings are inventive in nature and not copied work. The reference works and the inspirations have been duly cited and credited.
Teleworking during the COVID-19 pandemic: a leader-member exchange perspective
Authors: Chang Yuhsuan , Chien ChungJen , Shen Li-Fang
Published: May 2022

Purpose

The COVID-19 pandemic has accelerated the process of teleworking and teleworking is expected to be a central feature of workplaces of the future. The present study examines the effect of leader-member exchange (LMX) and perception of loneliness on the relationship between proactive coping and the work productivity of teleworkers during the COVID-19 crisis time.

Design/methodology/approach

Using structural equation modeling (SEM), this study the study is based on a survey of 572 teleworkers in Taiwan drawn from a variety of industry sectors.

Findings

Through the application of a hypothesized moderated mediation model, the indirect effects of proactive coping on work productivity via LMX are stronger for employees who experience a higher level of perceived loneliness.

Research limitations/implications

The results have contributed to current understanding on the success of telework at the individual level and extends research framework of teleworking. Using self-report questionnaire is one of the limitations; however, this was feasible data collection method during COVID-19.

Practical implications

Organizations need to provide further training aimed at enhancing proactive coping and dealing with future work challenges in the complex and dynamic workplace.

Originality/value

This study is the first among its type to examine proactive coping and job productivity from a LMX during COVID-19.
Predicting crowdfunding success with visuals and speech in video ads and text ads
Authors: Al-Qershi Osamah M. , Kwon Junbum , Zhao Shuning , Li Zhaokun
Published: May 2022

Purpose

For the case of many content features, This paper aims to investigate which content features in video and text ads more contribute to accurately predicting the success of crowdfunding by comparing prediction models.

Design/methodology/approach

With 1,368 features extracted from 15,195 Kickstarter campaigns in the USA, the authors compare base models such as logistic regression (LR) with tree-based homogeneous ensembles such as eXtreme gradient boosting (XGBoost) and heterogeneous ensembles such as XGBoost + LR.

Findings

XGBoost shows higher prediction accuracy than LR (82% vs 69%), in contrast to the findings of a previous relevant study. Regarding important content features, humans (e.g. founders) are more important than visual objects (e.g. products). In both spoken and written language, words related to experience (e.g. eat) or perception (e.g. hear) are more important than cognitive (e.g. causation) words. In addition, a focus on the future is more important than a present or past time orientation. Speech aids (see and compare) to complement visual content are also effective and positive tone matters in speech.

Research limitations/implications

This research makes theoretical contributions by finding more important visuals (human) and language features (experience, perception and future time). Also, in a multimodal context, complementary cues (e.g. speech aids) across different modalities help. Furthermore, the noncontent parts of speech such as positive “tone” or pace of speech are important.

Practical implications

Founders are encouraged to assess and revise the content of their video or text ads as well as their basic campaign features (e.g. goal, duration and reward) before they launch their campaigns. Next, overly complex ensembles may suffer from overfitting problems. In practice, model validation using unseen data is recommended.

Originality/value

Rather than reducing the number of content feature dimensions (Kaminski and Hopp, 2020), by enabling advanced prediction models to accommodate many contents features, prediction accuracy rises substantially.
An overview of the state of urban resilience in Iran
Authors: Moradpour Nabi , Pourahmad Ahmad , Hataminejad Hossein , Ziari Keramatollah , Sharifi Ayyoob
Published: May 2022

Purpose

In Iran, the frequent occurrence of disasters has always been a major problem. In recent decades, disasters have created considerable challenges, especially in cities. Hence, understanding the levels of urban resilience (UR) and planning for addressing vulnerabilities plays a key role in the era of increasing risks and uncertainties. The present study aims to provide a comprehensive overview of the state of resilience of Iranian cities.

Design/methodology/approach

A systematic literature review method was used to determine how resilient Iranian cities are. To find relevant studies, the authors searched Iranian and international databases such as Scopus, ScienceDirect, SID and Magiran. There was no restriction on the inclusion date, meaning that all papers published up until September 16, 2021 were considered for inclusion. The PRISMA framework was used for literature search and selection and, finally, 153 studies focused on 52 cities of Iran were selected for the systematic review.

Findings

In general, the results showed that the level of resilience was low in Iranian cities. Also, informal settlements, worn-out urban fabrics and the central parts of cities showed lower resilience than other parts.

Originality/value

The results of the study can be used to inform municipal authorities, urban planners and non-governmental organizations of the actions that need to be taken to enhance the resilience of Iranian cities.
How diverse are Shariah supervisory boards of Islamic banks? A global empirical survey
Authors: Kachkar Omar , Yilmaz Mustafa K.
Published: May 2022

Purpose

This study aims to examine diversity in the composition of Shariah supervisory boards (SSBs) of Islamic banks (IBs). It investigates diversity from two perspectives: existing composition of SSBs and the regulatory frameworks and standards of selected Organisation of Islamic Cooperation countries. Diversity characteristics include education, nationality, gender and age.

Design/methodology/approach

A list of all full-fledged Islamic commercial banks (FFICBs) globally has been carefully prepared and confirmed. Conventional banks with Islamic windows, non-commercial banks, takaful companies and other Islamic financial institutions are excluded. The available profiles of 428 SSB members have been scrutinised and analysed. These board members occupy 522 SSB positions in 238 FFICBs operating in 52 countries around the globe. From the regulatory perspective, 12 national and international Shariah governance frameworks and standards have been examined.

Findings

Findings of this paper indicate various levels of diversity in SSBs of the reviewed IBs. The level of diversity in educational background and in the nationality of SSBs can be described as generally acceptable. However, a lack of diversity in gender and age among SSB members is evidently observed in IBs. While the lack of age diversity in SSBs may be relatively justified as a common trend in the composition of corporate boards, SSBs of IBs are seriously lagging behind in gender diversity. On the regulatory level, this study concluded that provisions on diversity as a requirement in SSBs are almost non-existent in the existing regulatory frameworks and standards.

Research limitations/implications

The major limitation of this study is the lack of available information on the SSB members.

Practical implications

This paper provides insights for IBs and policymakers concerned with the corporate governance of IBs and all Islamic financial institutions. First, it offers an excellent bird’s-eye view of the status of diversity in SSBs of IBs. Second, it motivates policymakers and standard-setting bodies to ensure, through the relevant regulatory frameworks, adequate levels of diversity in the composition of SSBs. Diversity in SSBs of IBs and Islamic financial institutions should be given special emphasis, not only in boards and top management positions but also in the workplace. This is of profound significance to the reputation of Islamic finance industry which has been recently under mounting pressure to translate the rhetoric about the Islamic finance industry being ethical, fair, just, equitable and inclusive into genuine implementations.

Originality/value

To the best of the authors’ knowledge, this study is the first of its kind to examine the diversity of SSB members from the regulatory as well as from the implementation perspective.
From connective actions in social movements to offline collective actions: an individual level perspective
Authors: Bernroider Edward W.N. , Harindranath G. , Kamel Sherif
Published: May 2022

Purpose

The purpose of this study is to investigate the role of connective action characterised by interconnection and personal communication on social media (SM) for participating in collective action in the physical world of social movements.

Design/methodology/approach

A research model is developed integrating different modes of connective action into the social identity model of collective action (SIMCA) to investigate pathways to participating in offline collective action (CA) from an individual perspective. Following a survey design approach, data collected from 194 respondents in the background of Egypt's social movements are examined using partial least squares (PLS) path modelling and mediation analyses.

Findings

The authors' main results reveal that interactive socialisation (IS) on SM provides an important momentum for the user to internalise (consume) and externalise (share) content online from a social learning perspective. In terms of translating these activities to participating in offline CA, the authors find support for two independent causal chains: An “instrumental” chain building on content externalisation (CE) and efficacy considerations and an “obligatory” chain based on content internalisation (CI) and collective identity.

Originality/value

The authors' results highlight the individual-level origins of offline mobilisation in social movements, which are not only grounded in social-psychology, but also develop out of interrelated connective actions supporting social learning. Prior work has mainly conceptualised the value of SM in social movements for online political communication. The authors' conceptualisation is novel in terms of integrating online and offline behaviours with social-psychological perspectives and the application with primary data in a protest movement context that heavily relied on connective actions for offline mobilisation.
Understanding pay satisfaction in public sector: evidence from Sri Lanka
Authors: Wickramasinghe Vathsala
Published: May 2022

Purpose

The purpose of this paper is to investigate the determinants of pay satisfaction of executive-level employees in public sector of Sri Lanka, which follows an open pay system.

Design/methodology/approach

The perceptions of equity, love of money, justice and seven individual and socio-demographic characteristics were investigated as the determinants of pay satisfaction. The survey methodology is used for data collection.

Findings

The findings showed equity, love of money, justice, the years of work experience in public sector, the number of income earners in the family and the number of dependents in the family as the significant predictors of pay satisfaction. Gender is identified as a significant predictor of love of money.

Originality/value

This study investigated the dynamics of pay satisfaction in a novel research context – i.e. public sector, an open pay system, gender equality in the pay system and an Asian developing country.
Integrative work design for telework practices: lessons learned from the COVID-19 pandemic in Thailand
Authors: Popaitoon Patchara
Published: May 2022

Purpose

This study aims to identify an effective work design for telework practices in Thailand by investigating the influence on employee work engagement and job stress of job demands and resources in three domains of work characteristics – task, social and contextual.

Design/methodology/approach

In total, 1,052 high-intensity teleworkers participated in our online survey. Nested model comparisons and chi-square difference tests were used to test the significance of the three domains of work characteristics by comparing changes in model fit associated with the removal of the parameters associated with each domain. The best fit model was then used to examine the hypothesized relationships.

Findings

The results revealed that each domain of work characteristics provides additional and meaningful insights on employee outcomes. For telework practices in Thailand, supervisor support and work autonomy, the job resources specified respectively in the social and task domain can enhance work engagement. In contrast, supervisor surveillance and communication overload, the job demands in these respective domains can lead to job stress. Additionally, telework contextual demands of blurred work–life boundaries reduce employee work engagement. Communication overload has paradoxical outcomes of increased job stress and improved work engagement.

Originality/value

This study contributes to the work design and telework literature by applying an integrative work–design approach to demonstrate that organizations should consider both job demands and resources in a wider context of work design. This study also provides insights in respect of Thai cultural values to explain the effective design of telework practices in Thailand, a country where telework is relatively new and the work–design literature is very limited. This study is useful for international business managers wishing to adopt telework practices in Thailand to localize how telework is organized and ensure a smooth transition to the new world of work more successfully in the post-pandemic period.
Multi-homing in B2B services: a psychological perspective
Authors: Manchanda Mohit , Deb Madhurima
Published: May 2022

Purpose

Extant literature on business-to-business (B2B) has largely ignored studying multi-homing through a psychological lens. This paper aims to outline the results of three constituent studies, which were designed to reveal potential differences in multi-homers’ versus single-homers’ loyalty behaviors in a B2B and supply chain management (SCM) setting; identify factors that differentiate single-homers and multi-homers in these settings; and examine the relevance and effect of perceived risk on multi-homing behaviors.

Design/methodology/approach

In Studies 1 and 2, the authors used a questionnaire-based survey to capture the perceptions of 503 and 458 SCM experts, respectively. They then deployed AMOS v.21 to perform structural equation modeling. In Study 3, the authors used a mixed-methods approach to interview 18 SCM experts and then applied these insights to a survey with 242 SCM experts.

Findings

Study 1 reveals that multi-homers’ loyalty toward their preferred SP has a weaker effect on willingness to pay premium prices and share-of-wallet than single-homers’ loyalty. Study 2 establishes that several attitudinal factors distinguish multi-homers from single-homers in a loyalty framework. Study 3 concludes that perceived risk dimensions promote multi-homing intention, which in turn promotes multi-homing behavior.

Originality/value

Through empirical investigation, the present research succeeds in establishing that multi-homing is a concern for SPs, deciphering the attitudinal factors that distinguish multi-homers and single-homers in a loyalty framework, and confirming the influence of perceived risk dimensions on multi-homing. Thus, the study has several theoretical and practical implications for B2B services in emerging economies.