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LoFtool : a gene intolerance score based on loss-of-function variants in 60 706 individuals

MOTIVATION: Depletion of loss-of-function (LoF) mutations may provide a rank of genic functional intolerance and consequently susceptibility to disease.RESULTS: Here we have studied LoF mutations in 60 706 unrelated individuals and show that the most intolerant quartile of ranked genes is enriched in rare and early onset diseases and explains 87% of de novo haploinsufficient OMIM mutations, 17% mo

Salt-inducible kinase 2 and -3 are downregulated in adipose tissue from obese or insulin-resistant individuals : implications for insulin signalling and glucose uptake in human adipocytes

AIMS/HYPOTHESIS: Salt-inducible kinases (SIKs) are related to the metabolic regulator AMP-activated protein kinase (AMPK). SIK2 is abundant in adipose tissue. The aims of this study were to investigate the expression of SIKs in relation to human obesity and insulin resistance, and to evaluate whether changes in the expression of SIKs might play a causal role in the development of disturbed glucose

Bioimprinting as a tool for the detection of aflatoxin B1 using a capacitive biosensor

A strategy for the detection of aflatoxin B1 using a capacitive biosensor has been studied. The use of proteins for the generation of sites with high specificity against aflatoxin B1 are produced via bioimprinting. This technique has become a tool for the detection of aflatoxin B1 using a capacitive biosensor. The results demonstrate the ability to generate specific interactions with aflatoxin B1

Enterprise Risk Management and Default Risk : Evidence from the Banking Industry

Enterprise risk management (ERM) has emerged as a framework for more holistic and integrated risk management with an emphasis on enhanced governance of the risk management system. ERM should theoretically reduce the volatility of cash flows, agency risk, and information risk—ultimately reducing a firm's default risk. We empirically investigate the relationship between the degree of ERM implementat

Saliva-Induced Clotting Captures Streptococci : Novel Roles for Coagulation and Fibrinolysis in Host Defense and Immune Evasion

Streptococcal pharyngitis is among the most common bacterial infections, but the molecular mechanisms involved remain poorly understood. Here we investigate the interactions among three major players in streptococcal pharyngitis: streptococci, plasma, and saliva. We find that saliva activates the plasma coagulation system through both the extrinsic and the intrinsic pathways, entrapping the bacter

Mobile Communication, Public Participation and E-Governance in China : A case study of Xiamen Anti-PX Demonstration

China has become the biggest mobile communication carrier in the world since 2001. Advanced technologies create a communication revolution, and the individual, through the advent of mobile media, has become an active participant in this process. This study investigates the mobile phone’s impact upon the developments of public participation, social inclusion and citizenship through the case study o

Contextual Factors and Crisis Attribution in Social Media Crisis : Revisiting Situational Crisis Communication Theory in the Chinese Context

The neglect of broader social and cultural contexts in crisis communication research raises the question of the applicability of Western originated theories in nonwestern contexts. To address the issue, this study revisits Situational Crisis Communication Theory (SCCT) in Chinese contexts by taking an online discussion on Weibo about a high-profile homicide in a McDonald’s restaurant as the case.

Regional foresight and dynamics of smart specialization: A typology of regional diversification patterns

The concept of smart specialization has attracted great interest and has been adopted widely in European regional and innovation policy. Foresight is an important part of creating smart specialization strategies. However, both the smart specialization concept and foresight have been criticized for lacking an empirical and theoretical foundation that can help guide their application in practice. Th

Environmental barriers and use of mobility devices.

To describe outdoor barriers in the nearby home environments of very old people, and to investigate whether the presence of these environmental barriers differed between users and non-users of mobility devices (MDs). Method: Baseline data on 397 Swedish people aged 80-89 years, collected with a study-specific question on MD use and a subset of the environmental component of the Housing Enabler ins

Asymmetric song recognition between recently diverged subspecies of reed bunting

Acoustic divergence among populations may result in assortative mating, behavioral isolation, and speciation. In birds, the recogni- tion of suitable mates depends to a large extent on learning, generally resulting in a tendency to discriminate against nonlocal stimuli. However, there may be geographical variation in the discrimination against nonlocal stimuli, and this may allow inferring the mec

Impaired psychomotor ability and attention in patients with persistent pain : A cross-sectional comparative study

Background and aims: Patients with pain have shown cognitive impairment across various domains. Although the pain qualities vary among patients, research has overlooked how cognitive performance is affected by the duration and persistence of pain. The current study sought to fill this gap by examining how qualitatively different pain states relate to the following cognitive functions: sustained at