Pangenomes are collections of annotated genome sequences of multiple individuals of a species. The structural variants uncovered by these datasets are a major asset to genetic analysis in crop plants. Here we report a pangenome of barley comprising long-read sequence assemblies of 76 wild and domesticated genomes and short-read sequence data of 1,315 genotypes.
View Article and Find Full Text PDFBackground: This study validates the application of Systematized Nomenclature of Medicine second edition (SNOMED II) codes used to describe medical kidney biopsies in Denmark in encoded form, aiming to support robust epidemiological research on the causes, treatments and prognosis of kidney diseases.
Methods: Kidney biopsy reports from 1 January 1998 to 31 December 2018 were randomly extracted from the Danish National Patobank, using SNOMED codes. A 5% sample was selected, and nephrologists assessed the corresponding medical records, assigning each case the applied clinical diagnoses.
Barley produces several specialized metabolites, including five α-, β-, and γ-hydroxynitrile glucosides (HNGs). In malting barley, presence of the α-HNG epiheterodendrin gives rise to undesired formation of ethyl carbamate in the beverage production, especially after distilling. Metabolite-GWAS identified QTLs and underlying gene candidates possibly involved in the control of the relative and absolute content of HNGs, including an undescribed MATE transporter.
View Article and Find Full Text PDFThousands of barley (Hordeum vulgare L.) mutants have been isolated over the last century, and many are stored in gene banks across various countries. In the present work, we developed a pipeline to efficiently identify causal mutations in barley.
View Article and Find Full Text PDFMany induced mutants are available in barley ( L.). One of the largest groups of induced mutants is the Erectoides () mutants, which is characterized by a compact and upright spike and a shortened culm.
View Article and Find Full Text PDFPlant membrane transporters controlling metabolite distribution contribute key agronomic traits. To eliminate anti-nutritional factors in edible parts of crops, the mutation of importers can block the accumulation of these factors in sink tissues. However, this often results in a substantially altered distribution pattern within the plant, whereas engineering of exporters may prevent such changes in distribution.
View Article and Find Full Text PDFIntroduction: Hemodialysis (HD) induces several physiological changes that can affect plasma glucose levels in patients with diabetes and in turn their glycemic control. Studies using continuous glucose monitoring (CGM) to assess glucose variations on dialysis days compared with nondialysis days report conflicting results. Here, we used CGM to examine glucose variations induced by HD in patients with type 2 diabetes.
View Article and Find Full Text PDFPurpose: Active acromegaly is associated with impaired glucose metabolism, which improves upon treatment. Treatment options include surgery, medical therapy with somatostatin analogues (SSA) and Pegvisomant (PEG), and irradiation. The objective of the study was to describe the differential effect of various treatment regimens on the secretion of glucose, insulin, glucagon, glucagon-like peptide-1 (GLP-1), and glucose-dependent insulinotropic polypeptide (GIP) in patients with acromegaly.
View Article and Find Full Text PDFLate Pliocene and Early Pleistocene epochs 3.6 to 0.8 million years ago had climates resembling those forecasted under future warming.
View Article and Find Full Text PDFPurpose: To develop a method to determine the volume of peripapillary hyperreflective ovoid masslike structures (PHOMS) and to examine the correlation between PHOMS and anatomic optic nerve head characteristics in a large cohort of patients with optic disc drusen (ODD).
Design: Retrospective, observational study of patients with ODD.
Participants: Patients with ODD seen in a 3-year period.
Recently determined structures of class C G protein-coupled receptors (GPCRs) revealed the location of allosteric binding sites and opened new opportunities for the discovery of novel modulators. In this work, molecular docking screens for allosteric modulators targeting the metabotropic glutamate receptor 5 (mGlu) were performed. The mGlu receptor is activated by the main excitatory neurotransmitter of the nervous central system, L-glutamate, and mGlu receptor activity can be allosterically modulated by negative or positive allosteric modulators.
View Article and Find Full Text PDFPurpose: To determine the prevalence of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a population-based child cohort and to study their association with other optic nerve head features and myopia.
Design: Observational, population-based cohort study of 1407 children aged 11-12 years.
Methods: Optical coherence tomography scans of optic nerve heads were graded for PHOMS, disc tilt, prelaminar hyperreflective lines, and scleral canal diameter and investigated for associated prenatal and ocular parameters.
The N-demethylation of zicronapine (7) and three of its deuterated analogs 8 - 10 has been studied in human in vitro metabolism systems. While the N-deuterio-methyl analog 8 did not behave differently from the parent in human liver microsomes, a significantly reduced rate of N-demethylation was observed as a consequence of benzene ring deuteration (compound 7vs.9).
View Article and Find Full Text PDFPurpose: Optic disc drusen (ODD) is an anatomical risk factor for nonarteritic anterior ischemic optic neuropathy (NA-AION). This study aimed to investigate the anatomical and vascular risk factors of patients with ODD-AION (ODD-associated NA-AION) and compare them with similar data from patients with nODD-AION (NA-AION without ODD).
Design: Case-control study.
This review provides an update on open-angle glaucoma with a special focus on the current non-invasive treatment modalities, side effects and interactions to topical pressure-lowering eye drops that all treatment providers should be aware of. We highlight current challenges in terms of timely diagnosis and compliance and outline promising areas of research within the field.
View Article and Find Full Text PDFIntroduction: The accuracy of hemoglobin A1c (HbA1c) as a glycemic marker in patients with type 2 diabetes (T2D) receiving hemodialysis (HD) remains unknown. To assess accuracy, we compared HbA1c and fructosamine levels with interstitial glucose measured by continuous glucose monitoring (CGM) in patients with T2D receiving HD.
Methods: Thirty patients in the HD group and 36 patients in the control group (T2D and an estimated glomerular filtration rate >60 mL/min/1.