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Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutatio

Enhancing floral resources is a widely accepted strategy for supporting wild bees and promoting crop pollination. Planning effective enhancements can be informed with pollination service models, but these models should capture the behavioural and spatial dynamics of service-providing organisms. Model predictions, and hence management recommendations, are likely to be sensitive to these dynamics. W

Objective: The capacity to precisely predict progression to type 1 diabetes (T1D) in young children over a short time span is an unmet need. We sought to develop a risk algorithm to predict progression in children with high-risk human leukocyte antigen (HLA) genes followed in The Environmental Determinants of Diabetes in the Young (TEDDY) study. Methods: Logistic regression and 4-fold cross-valida

Herein we demonstrate the favorable synergistic effect of an NH4Cl additive and DMSO solvent on 2D perovskites that are synthesized at room temperature. Interestingly, we observe the spontaneous formation of 3D phases within either NH4Cl or DMSO treated 2D perovskites, which plays a pivotal role in facilitating charge transport. It is revealed that NH4Cl increases charge carrier lifetime and passi

Arsenic, an established carcinogen and toxicant, occurs in drinking water and food and affects millions of people worldwide. Arsenic appears to interfere with gene expression through epigenetic processes, such as DNA methylation and post-translational histone modifications. We investigated the effects of arsenic on histone residues in vivo as well as in vitro. Analysis of H3K9Ac and H3K9me3 in CD4

Trisomy 7 as the single chromosome aberration has been found in a variety of neoplasms and in normal tissue in the proximity of tumors, as well as in non-neoplastic lesions. Recently, we described a nonrandom pattern of chromosome aberrations, in particular, a gain of chromosome 7, in synovia, cartilage, and osteophytes from patients with osteoarthritis. To study the clonal origin of trisomy 7 in

Innovation plays an important role in organization survival and longevity. This is especially true in the retail industry; there is a growing acknowledgment of the role of innovation in retail practice, as maintaining the status quo might prove insufficient, especially for traditional retailers, in addressing the enormous challenges they are facing driven by technological developments and evolving

This chapter traces the Syrian crisis through the lives of Syrian labourers in Beirut. Lebanon has maintained a significant population of migrant workers for decades. Men undertook largely seasonal work with extended periods of wage labour abroad. However, there was little evidence of permanent settlement and few signs that a second-generation of Syrians settling permanently across the border. The

This paper is about how the Syrian government lost control over its rural and rural-to-urban constituents. From the twin perspective of ethnography and political economy, I show how the same pressures that structured men’s decisions to migrate from the countryside to sell labour power in the city resemble the material foundations for the uprising itself. The dominant narrative of the Syrian uprisi

Jennie Bradbury and Philip Proudfoot reveal how agriculture is at the heart of both strife and heritage in Syria

Att dela med sig av det som växer i ens trädgård kan betraktas som en enkel, vardaglig vänskapsgest eller helt enkelt ett sätt att bli av med något man inte själv har användning för. Det kan emellertid också ses som inslag i större och vidare sammanhang. Ett sätt att tolka fenomenet är att se det som del i en delningsekonomi; ett begrepp som under senare år allt oftare kommit att användas om de fr

Gösta Hellström was a prolific film critic who introduced new film movements into Sweden during the 1920s and 1930s. He also had a short career as a film director, and is especially known for his experimental short Tango (1932). Hellström is a representative of the early cinephilia and of a modernism that was never to be fulfilled in Sweden, at least not in terms of coherent film production. In th

Background: Clinical reasoning is the ability to integrate and apply different types of knowledge, weigh evidence critically and reflect upon the process to arrive at a diagnosis. Body awareness is an approach directed toward an awareness of how the body is used in terms of body function, behaviour, and interaction with self and others. Methods: In the present study, 36 physiotherapists (PTs) from

It is known that any harmonic map of finite uniton number from a Riemann surface into U (n) can be deformed into a new harmonic map with an associated S1-invariant extended solution. We study this deformation in detail using operator-theoretic methods. In particular, we show that the corresponding unitons are real analytic functions of the deformation parameter, and that the deformation is closely

We describe a new and model-independent Lévy imaging method of quality fits to the published datasets and reconstruct the amplitude of high-energy pp and pp¯ elastic scattering processes. This method allows us to determine the excitation function of the shadow profile P(b), the elastic slope B(t) and the nuclear phase ϕ(t) functions of pp and pp¯ collisions directly from the data. Surprisingly, no