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Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negat

Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplotype in an individual, are a clinically and biologically important class of genetic variation. However, existing tools typically do not accurately classify MNVs, and understanding of their mutational origins remains limited. Here, we systematically survey MNVs in 125,748 whole exomes and 15,708 whole

The present work is aimed at studying how spatially periodic modulations of the refractive index of the medium, i.e., laser-induced gratings (LIGs), generated in a gas mixture containing methane (CH4) by nanosecond pulses of resonant mid-infrared laser radiation, can be used to measure various gas parameters. It is investigated to what extent the temporal profiles of the LIG signals, recorded as t

The introduction of atomic layer deposition (ALD), to the microelectronics industry has introduced a large number of new possible materials able to be deposited in layers with atomic thickness control. One such material is the high-κ oxide HfO2; thermally stable and ultrathin HfO2 films deposited by ALD are a significant contender to replace SiO2 as the gate oxide in capacitor applications. We pre

BACKGROUND: The extent to which a history of hypertensive disorders of pregnancy is associated with incident cardiovascular disease also among women with diabetes is unknown.METHODS: In this nationwide register-based cohort study, parous women aged 18 to 69 years with a first delivery in the Swedish Medical Birth Register, regardless of diabetic status at that time, and a subsequent clinical visit

We investigate the spatial characteristics of high-order harmonic radiation generated in argon and observe cross-like patterns in the far field. An analytical model describing harmonics from an astigmatic driving beam reveals that these patterns result from the order and generation position-dependent divergence of harmonics. Even small amounts of driving field astigmatism may result in cross-like

Obesity is considered by many as a lifestyle choice rather than a chronic progressive disease. The Innovative Medicines Initiative (IMI) SOPHIA (Stratification of Obesity Phenotypes to Optimize Future Obesity Therapy) project is part of a momentum shift aiming to provide better tools for the stratification of people with obesity according to disease risk and treatment response. One of the challeng

Model Hamiltonians are regularly derived from first principles to describe correlated matter. However, the standard methods for this contain a number of largely unexplored approximations. For a strongly correlated impurity model system, here we carefully compare a standard downfolding technique with the best possible ground-truth estimates for charge-neutral excited-state energies and wave functio

BackgroundAround 15% of the global population live with some form of disabilities and experience worse health outcomes, less participation in the community and are part of fewer activities outside the home. Outdoor mobility interventions aim to improve the ability to move, travel and orient outside the home and could influence the number of activities outside the home, participation and quality of

In-situ measurements of the volume fraction of nanoparticles generated during the combustion of single iron particles were conducted using a high-speed light extinction method. The process of nanoparticles generation from iron particles burning under conditions of 21% oxygen concentration and ambient temperatures of 1400 K and 1850 K can be divided into three stages: acceleration of productivity,

BACKGROUND:: While increased mortality in rheumatoid arthritis (RA) is well established there is conflicting evidence on the association between osteoarthritis (OA) and mortality. Our aim was to estimate all-cause mortality in Swedish patients with RA and OA compared with the general population. METHODS:: Cohort study of the population of Skåne region, Sweden (1.3 million), based on physicians’ di

Objectives To estimate the prevalence and cumulative incidence of gout in southern Sweden with respect to socioeconomic status. Methods Among residents of Skåne region in the year 2013 (total population 1.3 million), adult persons (age 18 years +) who between 1998 and 2013 received a diagnosis of gout (International Classification of Disease 10th Edition (ICD-10) code M10) by any physician were id

Accumulating evidence shows that immune cells play an important role in atherosclerosis. Most attention has focused on the role of different T cell subsets, whereas the possible involvement of B cells has been less studied. In this study, we assessed the association of 2 different B cell subsets, CD19(+)CD40(+) and CD19(+)CD86(+) B cells, with risk for development of acute cardiovascular events.

Mutations in the CFTR gene result in impaired host defense during cystic fibrosis (CF), where Pseudomonas aeruginosa becomes a key pathogen. We investigated the expression pattern of the antibacterial growth factor midkine in CF and possible interference with its activity by the altered airway microenvironment. High midkine expression was found in CF lung tissue compared with controls, involving e

AIMS: Atrial fibrillation (AF) is a frequent co-morbidity in heart failure (HF) associated with increased mortality, but little is known about the mechanisms underlying AF onset in HF patients. We evaluated the association of cardiovascular and genetic risk factors with AF in HF patients. METHODS AND RESULTS: Individuals hospitalized for HF (n = 1040; 500 with AF) were identified from a large, pop

Using functional imaging and neural circuit reconstructions, a recent study reveals head direction neurons in the anterior hindbrain of zebrafish that resemble insect head-direction cells to a surprising degree.

The circulation is a closed system that has been assumed to be free from bacteria, but evidence for the existence of a low-density blood microbiota is accumulating. The present study aimed to map the blood microbiota of outpatients with Crohn’s disease (CD) or with ulcerative colitis (UC) by 16S metagenomics. A diverse microbiota was observed in the blood samples. Regardless of the type of disease