University of Liverpool

About: University of Liverpool is a education organization based out in Liverpool, United Kingdom. It is known for research contribution in the topics: Population & Context (language use). The organization has 40406 authors who have published 94388 publications receiving 3188970 citations. The organization is also known as: Liverpool University & The University of Liverpool.

De novo mutations in epileptic encephalopathies

Abstract: Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 × 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 × 10(-10) and P = 7.8 × 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P < 10(-8)), as has been reported previously for autism spectrum disorders.

The experience of work‐related stress across occupations

Abstract: Purpose – To compare the experience of occupational stress across a large and diverse set of occupations. Three stress related variables (psychological well‐being, physical health and job satisfaction) are discussed and comparisons are made between 26 different occupations on each of these measures. The relationship between physical and psychological stress and job satisfaction at an occupational level is also explored.Design/methodology/approach – The measurement tool used is a short stress evaluation tool which provides information on a number of work related stressors and stress outcomes. Out of the full ASSET database 26 occupations were selected for inclusion in this paper.Findings – Six occupations are reporting worse than average scores on each of the factors – physical health, psychological well‐being and job satisfaction (ambulance workers, teachers, social services, customer services – call centres, prison officers and police). Differences across and within occupational groups, for example, teac...

Conjugated Microporous Poly(aryleneethynylene) Networks

Abstract: Rigid wiry nets: Conjugated microporous polymer networks are formed by Sonogashira–Hagihara coupling. Although these materials are amorphous, the micropore size and surface area can be controlled by varying the length of the phenyleneethynylene struts (see picture; the network is shown in blue, and one 1,3,5-substituted benzene node and three connected struts are highlighted with C gray and H white).