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Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01

Genome-wide association studies (GWAS) have provided strong evidence for inherited predisposition to childhood acute lymphoblastic leukaemia (ALL) identifying a number of risk loci. We have previously shown common SNPs at 9p21.3 influence ALL risk. These SNP associations are generally not themselves candidates for causality, but simply act as markers for functional variants. By means of imputation

Context:Immunoassay-based techniques, routinely used to measure serum estradiol (E2), are known to have reduced specificity, especially at lower concentrations, when compared with the gold standard technique of mass spectrometry (MS). Different measurement techniques may be responsible for the conflicting results of associations between serum E2 and clinical phenotypes in men.Objective:Our objecti

Popular Abstract in Swedish Epilepsi är ett tillstånd med återkommande attacker av abnorma, repetitiva och synkrona urladdningar i det centrala nervsystemet. Kindling är en djurmodell för en svårbehandlad form av epilepsi (med komplexa partiella anfall) som ofta har sitt ursprung i det s. k. limbiska systemet. Kindling är en mycket vällämpad modell för studier av utvecklingen av den ökade retbarheEpilepsy is a syndrome characterized by recurring attacks of sudden, excessive and synchronous discharge in populations of cerebral neurons. Kindling is an animal model for complex partial epilepsy, and is particularly useful for studies on the development of the abnormal excitability underlying the generation and spread of epileptic seizures. Here we have used the kindling model to investigate me

Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic islet genotype tissue-expression resource (TIGER), aggregating >500 human islet genomic datasets from five cohorts in the Horizon 2020 consortium T2DSystems. We impute genotypes u

Regeneration of complex multi-tissue structures, such as limbs, requires the coordinated effort of multiple cell types. In axolotl limb regeneration, the wound epidermis and blastema have been extensively studied via histology, grafting, and bulk-tissue RNA-sequencing. However, defining the contributions of these tissues is hindered due to limited information regarding the molecular identity of th