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Defining the role of common variation in the genomic and biological architecture of adult human height.

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants

How nanochannel confinement affects the DNA melting transition within the Poland-Scheraga model.

When double-stranded DNA molecules are heated, or exposed to denaturing agents, the two strands are separated. The statistical physics of this process has a long history and is commonly described in terms of the Poland-Scheraga (PS) model. Crucial to this model is the configurational entropy for a melted region (compared to the entropy of an intact region of the same size), quantified by the loop

A Swedish National Prospective and Co-relative Study of School Achievement at Age 16, and Risk for Schizophrenia, Other Nonaffective Psychosis, and Bipolar Illness.

While cognitive ability is inversely associated with risk for schizophrenia (SZ), the association is less clear with other nonaffective psychoses (ONAP) and bipolar illness (BPI). Using national Swedish hospital registry data, we examined the prospective relationship between school achievement (SA) and development of SZ, ONAP, and BPI in 1800643 adolescents born 1972-1990. We used Cox proportional

Extension of nanoconfined DNA: Quantitative comparison between experiment and theory

The extension of DNA confined to nanochannels has been studied intensively and in detail. However, quantitative comparisons between experiments and model calculations are difficult because most theoretical predictions involve undetermined prefactors, and because the model parameters (contour length, Kuhn length, effective width) are difficult to compute reliably, leading to substantial uncertainti

Size-Resolved Respiratory Tract Deposition of Sub-Micrometer Aerosol Particles in a Residential Area with Wintertime Wood Combustion

Particle size distributions and hygroscopic growth were studied in a town in Sweden with extensive emissions from wood combustion. The average deposited fraction of particle number, surface area and volume dose in the human respiratory tract was estimated using the data set, as well as the typical deposition pattern of the two dominant particle source types: wood combustion and traffic exhaust. As

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052 individuals) in a total of

The Ageing Population

The process of population ageing that has been occurring in Sweden can be expected to continue during the coming decades, the population pyramid will become increasingly rectangular, and possibly even demonstrating a shrinking base. This will lead to increasing challenges in terms of financing pensions, elderly care and healtcare. These problems will continue for at least 30 years with no demograp

Tapasin discriminates peptide-human leukocyte antigen-A*02:01 complexes fromed with natural ligands

A plethora of peptides are generated intracellularly, and most peptide-human leukocyte antigen (HLA)-I interactions are of a transient, unproductive nature. Without a quality control mechanism, the HLA-I system would be stressed by futile attempts to present peptides not sufficient for the stable peptide-HLA-I complex formation required for long term presentation. Tapasin is thought to be central

Differences in physical activity patterns in patients with spondyloarthritis.

OBJECTIVE: To study patient reported physical activity in patients with spondyloarthritis (SpA) and possible differences in physical activity patterns between the SpA subtypes and genders. METHODS: In 2009 a questionnaire including questions concerning physical activity was sent to patients with a SpA diagnosis (n=3711). The WHO "Global recommendations of physical activity for health" requirin

Ingestion of gallium phosphide nanowires has no adverse effect on Drosophila tissue function.

Engineered nanoparticles have been under increasing scrutiny in recent years. High aspect ratio nanoparticles such as carbon nanotubes and nanowires have raised safety concerns due to their geometrical similarity to asbestos fibers. III-V epitaxial semiconductor nanowires are expected to be utilized in devices such as LEDs and solar cells and will thus be available to the public. In addition, clea

Midkine is part of the antibacterial activity released at the surface of differentiated bronchial epithelial cells

To resist infections, robust defense mechanisms of the airways are essential. Retinoic acid promotes differentiation and maintains the phenotypic characteristics of bronchial epithelium. In addition, it induces the expression of the antibacterial growth factor midkine (MK). In the present study, we explored the expression and antibacterial activity of MK in an airway context. MK was detected in br

Lymphomyeloid Contribution of an Immune-Restricted Progenitor Emerging Prior to Definitive Hematopoietic Stem Cells.

In jawed vertebrates, development of an adaptive immune-system is essential for protection of the born organism against otherwise life-threatening pathogens. Myeloid cells of the innate immune system are formed early in development, whereas lymphopoiesis has been suggested to initiate much later, following emergence of definitive hematopoietic stem cells (HSCs). Herein, we demonstrate that the emb

Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus

Introduction: Inherited deficiencies of several complement components strongly predispose to systemic lupus erythematosus (SLE) while deficiencies of complement inhibitors are found in kidney diseases such as atypical hemolytic uremic syndrome (aHUS). Methods: The exons of complement inhibitor genes CD46 and CFH (factor H) were fully sequenced using the Sanger method in SLE patients with nephritis

Non-intrusive detection of methanol in gas phase using infrared degenerate four-wave mixing

Sensitive and non-intrusive detection of gas-phase methanol with high spatial and temporal resolution has for the first time been reported using mid-infrared degenerate four-wave mixing (IR-DFWM). IR-DFWM spectra of methanol have been successfully recorded in nitrogen-diluted gas flows at room temperature and at 300 A degrees C, by probing ro-vibrational transitions belonging to the fundamental C-