Exocytosis is the mechanism by which a vesicle inside the cell fuses with the plasma membrane to release its contents into the extracellular environment. The process might sound trivial but reduced expression or mutations in genes involved can cause a variety of disease states. The exocytotic process is a necessary part of neurotransmitter release from the pre-synaptic side into the synaptic cleft

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European a

Epigenetic variation has been linked to several human diseases. Proliferative diabetic retinopathy (PDR) is a major cause of vision loss in subjects with diabetes. However, studies examining the association between PDR and the genome-wide DNA methylation pattern are lacking. Our aim was to identify epigenetic modifications that associate with and predict PDR in subjects with type 1 diabetes (T1D).

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenc

Atrial fibrillation (AF) is prevalent and there is a clinical need for biomarkers to identify individuals at higher risk for AF. Fixed throughout a life course and assayable early in life, genetic biomarkers may meet this need. Here, we investigate whether multiple single nucleotide polymorphisms together as an AF genetic risk score (AF-GRS) can improve prediction of one's risk for AF.

The role of mammalian Transient Receptor Potential Ankyrin 1 (TRPA1) as a mechanosensor is controversial. Here, we report that purified human TRPA1 (hTRPA1) with and without its N-terminal ankyrin repeat domain responded with pressure-dependent single-channel current activity when reconstituted into artificial lipid bilayers. The hTRPA1 activity was abolished by the thiol reducing agent TCEP. Thus

The incidence of acute appendicitis and the total number of appendectomies performed in the adult population admitted to our medical center are both decreasing. The cause is not clear. Better nutrition and the wide-spread use of antibiotics are two possible factors which come to mind, but we know of no scientific evidence that these are responsible. There has been a slight decrease in the mean die

Multifunctional buildings are characterized by multiple functions located within the same building. In this report specific problem areas are identified by the means of interviews and previous method development. The risks identified consider multifunctionality and antagonistic attacks. As a result from the previous method developed and the interviews, reference scenarios are suggested and conclus

A small population of Primula elatior has recently been found in a virgin swampy forest close to the southeastern shore of lake Ringsjon in Stehag parish. Here it grows in fully natural vegetation together with e.g. Anemone ranunculoides, Paris quadrifolia, Listera ovata, Ranunculus auricomus and Viola epipsila and there are no reasons to suspect that the population is anything but spontaneous. Un

OBJECTIVE- We studied differences between patients with latent autoimmune diabetes in adults (LADA), type 2 diabetes, and classical type 1 diabetes diagnosed after age 35 years. RESEARCH DESIGN AND METHODS- Polymorphisms in HLA-DQB1, INS, PTPN22, and CTLA4 were genotyped in patients with LADA (n = 213), type 1 diabetes diagnosed at >35 years of age (T1D(>35y); n = 257) or 35y) and type 2 diabetic

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF)

When different polling organisations conduct political party preference polls at different times, different parties might be reported. If the estimated voter shares of these polls are combined into a time series we obtain a compositional time series, but with varying number of parts, thus prohibiting the use of standard compositional time series analysis tools. We discuss the problem and suggest a