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Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

There is currently limited understanding of the genetic aetiology of obstructive sleep apnoea (OSA). We aimed to identify genetic loci associated with OSA risk, and to test if OSA and its comorbidities share a common genetic background. We conducted the first large-scale genome-wide association study of OSA using the FinnGen study (217 955 individuals) with 16 761 OSA patients identified using nat

The genetic consequences of dog breed formation - Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels

Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load rem

Effects of TCF7L2 rs7903146 variant on metformin response in patients with type 2 diabetes

The response to metformin, the most commonly used drug for the treatment of type 2 diabetes (T2D), is highly variable. The common variant rs7903146 C>T within the transcription factor 7-like 2 gene (TCF7L2) is the strongest genetic risk factor associated with T2D to date. In this study, we explored the effects of the TCF7L2 rs7903146 genotype on metformin response in T2D. The study included 86 new

Genome-Wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagen

Background Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown. Methods To identify genetic variants predisposing to diabetic kidney disease, we performed genomewide association study (GWAS) analyses. Through collaboration with the Diabetes Nephropathy Collaborat

Project SSM2019-5225: “Marine 14C levels around the Swedish coast” – Additional gamma spectrometric measurements and ICP-MS analysis of brown algae (Fucus spp.)

The results of the project SSM2019-5225, “Marine 14C levels around the Swedish coast”, financed by the Swedish Radiation Safety Authority (SSM), are presented in the paper “Spatial and temporal variations of 14C in Fucus spp. in Swedish coastal waters” published in the Journal of Environmental Radioactivity. The project SSM2019-5225 focussed on spatial variations in 14C in Fucus spp. samples colle

Compensating for National Socialist Injustice and Indemnifying Jewish Victims

The contribution contains a comprehensive presentation of the legal regulations for the indemnification of National Socialist injustice—notably the restitution of property of Jewish victims of the Holocaust—, using the example of the law of the Federal Republic of Germany. It is also devoted to the contextualization of indemnification and reparation policy in terms of international law, public law

Towards improved precision and a new classification of diabetes mellitus

Type 2 diabetes (T2D) is one of the fastest increasing diseases worldwide. Although it is defined by a single metabolite, glucose, it is increasingly recognized as a highly heterogeneous disease with varying clinical manifestations. Identification of different subtypes at an early stage of disease when complications might still be prevented could hopefully allow for more personalized medicine. An

Revisiting the dynamics of proteins during milk powder hydration using asymmetric flow field-flow fractionation (AF4)

The dynamics of β-casein and casein micelles in the reconstitution of skim milk were revisited in this study. β-casein migrates into casein micelles upon an increase in temperatures due to an increase in the hydrophobic effect and lower calcium-phosphate cluster solubility. This process can be reversed upon cooling. These phenomena are well known in fresh milk and are not yet clearly established f

Differences in antipsychotic treatment between depressive patients with and without a suicide attempt

Background: Depressed suicide attempters are, according to some earlier studies, treated more often with antipsychotics than depressive non-suicide attempters. Cluster B personality disorders, especially borderline personality disorder, are associated with a high suicide risk, and antipsychotics are commonly used for the reduction of symptoms. However, no previous study has taken comorbid personal

Oral delivery of all-trans retinoic acid mediated by liposome carriers

All-trans retinoic acid (ATRA) is a molecule that finds wide applications in medicine. Connection between cancer cell proliferation and ATRA is a well-established item. Driven by the potential applications of liposomes in stabilizing and protecting therapeutic compounds thus enabling effective delivery of encapsulated compounds, recent research efforts have been directed to understanding mechanism

Polyhydroxyalkanoate synthase (PhaC) : The key enzyme for biopolyester synthesis

Polyhydroxyalkanoates (PHAs) are considered good candidates in replacing commercial petrochemical plastics in certain applications like single-use packaging since they are biodegradable, biocompatible and share similar properties with conventional plastics. PHA synthase (PhaC) is the key enzyme in PHA biosynthesis. There are four classes of PhaC, namely, class I, class II, class III and class IV,

The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?

Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlying cause. Interestingly, methylation of mtDNA has been associated with various clinical pathologies. The present study set out to assess whether mtDNA

Landscape of surfaceome and endocytome in human glioma is divergent and depends on cellular spatial organization

Therapeutic strategies directed at the tumor surfaceome (TS), including checkpoint inhibitor blocking antibodies, antibody drug conjugates (ADCs), and chimeric antigen receptor T (CAR-T) cells, provide a new armament to fight cancer. However, a remaining bottleneck is the lack of strategies to comprehensively interrogate patient tumors for potential TS targets. Here, we have developed a platform (