Abstract We designed oligonucleotide primer pairs to amplify the promoter region, translated exon sequences, and flanking intron sequences of all 18 exons LDL receptor gene compare ability PCR single-strand conformation polymorphism (PCR-SSCP) method with semiautomated solid-phase genomic DNA sequencing detect sequence variations. In 20 apparently unrelated Danish patients a clinical diagnosis heterozygous familial hypercholesterolemia (FH), we identified 13 different mutations in gene: two...

Purpose: Artificial indoor lighting can disturb sleep and increase depressive symptoms; both common complaints in psychiatric inpatients. In this trial we aimed to improve inpatients using a circadian environment.Patients methods: Investigator-blinded parallel-group randomised controlled effectiveness an inpatient ward with adjustable lighting. Admitted patients received pre-set environment (intervention group) or as usual (control group). The primary outcome was the Pittsburg Sleep Quality...

Regulated vesicle exocytosis is a key response to extracellular stimuli in diverse physiological processes, including hormone regulated short-term urine concentration. In the renal collecting duct, water channel aquaporin-2 (AQP2) localizes apical plasma membrane as well small, subapical vesicles. stimulation with antidiuretic hormone, arginine vasopressin, aquaporin-2-containing vesicles fuse membrane, which increases duct reabsorption and thus, The nanoscale size of these has limited...

Abstract We have improved the protocol for RNA quantification by using RNase protection. Instead of precipitation and extraction with phenol chloroform, we use a faster more reliable based on guanidinium thiocyanate (GdSCN). The internal standard is produced in vitro transcription DNA template constructed so as to allow simultaneous detection transcript low-density lipoprotein receptor (LDLR) mRNA same probe hybridization. Addition this at step isolation reduced analytical imprecision from...

Abstract Background With a growing number of chronic patients and shortage healthcare professionals, modern health systems face mounting economic pressures. Telehealth has emerged as promising solution to address these challenges is considered critical component future provision. However, implementing telehealth on large scale complex challenging. To fully grasp challenges, it essential look beyond the technology delve into processes actors involved in its implementation. Actors...

A plethora of different mutations in the gene for low density receptor (LDLR) are responsible autosomal dominant inherited disorder familial hypercholesterolemia (FH). However, only a few splice site have been identified this gene. We here report defect presumably affecting splicing precursor mRNA, resulting from novel mutation, G to transition at terminal nucleotide intron 12, LDLR detected three unrelated families with heterozygous FH. This mutation markedly reduced steady‐state transcript...

We used polymerase chain reaction single‐strand conformation polymorphism (PCR‐SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene family of Iranian‐Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 LDLR gene, which causes translational frameshift, whereby truncated protein first 471 residues with an additional 41 abnormal and premature stop codon would be created. deletion was detected father son clinical features...

The 53-aa polypeptide epidermal growth factor (EGF) is synthesized as a 1200-aa precursor. non-EGF part of the precursor very long compared with EGF, and can therefore be expected to have biological role its own. We sequenced cDNA pig EGF 668-aa segment that human, rat mouse precursors, in order identify highly conserved domains. examined contains itself six so-called EGF-like modules. overall amino acid identity among four species 64%. However, differed from around 30% some segments 70%...

Determining an appropriate number of features for each layer in a neural network is important and difficult task. This task especially applications on systems with limited memory or processing power. Many current approaches to reduce size either utilize iterative procedures, which can extend training time significantly, require very careful tuning algorithm parameters achieve reasonable results. In this paper we propose NodeDrop, new method eliminating network. With define condition identify...

Abstract Photoactivated localisation microscopy (PALM) produces an array of coordinates by means photoactivatable fluorescent proteins. However, observations are subject to fluorophore multiple-blinking and each protein is included in the dataset unknown number times at different positions, due error. This causes artificial clustering be observed data. We present a workflow using calibration-free estimation blinking dynamics model-based clustering, produce corrected set now representing true...

In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK‐4, deletes nucleotides from ex on 4 coding for third cysteine‐rich repeat of ligand‐binding domain. The resulting translational frameshift and stop codon corresponding amino acid position 181 cDNA is predicted result truncated...

Photoactivated localization microscopy (PALM) is a powerful imaging technique for characterization of protein organization in biological cells. Due to the stochastic blinking fluorescent probes and camera discretization effects, each gives rise cluster artificial observations. These artifacts are an obstacle quantitative analysis PALM data, tools their correction high demand. We develop independent point process (IBCpp) family models, which suited modeling data from single-molecule...

Introduction Electric indoor lighting can disturb sleep and increase depressive symptoms; both common complaints in psychiatric inpatients. Aims To improve quality of patients using an hospital environment simulating nature intensity, color, circadian timing. Methods Investigator-blinded parallel group randomized controlled effectiveness trial supplied with qualitative interviews inpatient ward fully automatic adjustable lighting. Admitted received a room naturalistic (intervention group) or...