Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.

Patients with genetically-based hyperlipidemias exhibit a wide phenotypic variability. Investigation of clinical and biochemical features is important for identifying genetically-based hyperlipidemias, determining disease prognosis, and initiating timely treatment. We analyzed genetic data from 3374 samples and compared clinical data, lipid levels (low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, and lipoprotein (a)), frequency, age at onset of coronary heart disease (CHD), and the severity of carotid and femoral atherosclerosis (plaque number, maximum stenosis, total stenosis, maximum plaque height, and plaque score) among patients with familial hypercholesterolemia (FH), familial dysbetalipoproteinemia (FD), polygenic hypercholesterolemia (HCL), severe HCL, and those without lipid disorders (n = 324).

Spectrum and Prevalence of Rare Variants and Their Association with Familial Dysbetalipoproteinemia.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder. About 10% of FD patients have rare variants associated with autosomal dominant FD. However, there are insufficient data on the relationship between rare variants and FD.

CRISPR-Based Editing of the Gene.

gene is shown to have numerous diverse functions in plant development, including the regulation of embryo morphogenesis and maturation, hypocotyl elongation, flowering transition, etc. However, the functions of orthologs in different plant species have not been extensively studied. In this study, we obtained a line of , a model leguminous plant, carrying the loss-of-function mutation in the gene, orthologous to , using the Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-associated proteins (CRISPR/Cas9) genome editing system.

Identification of Genomic Regions Conferring Enhanced Zn and Fe Concentration in Wheat Varieties and Introgression Lines Derived from Wild Relatives.

Wild and cultivated relatives of wheat are an important source of genetic factors for improving the mineral composition of wheat. In this work, a wheat panel consisting of modern bread wheat varieties, landraces, and introgression lines with genetic material of the wheat species , , , and and the synthetic line was used to identify loci associated with the grain zinc (GZnC) and iron (GFeC) content. Using a BLINK model, we identified 31 and 73 marker-trait associations (MTAs) for GZnC and GFeC, respectively, of which 19 were novel.

Identification of QTLs associated with grain-filling duration and heading date in wheat.

An increase in genetic diversity of bread wheat caused by spring x winter forms leads to an alteration of genetic control of maturity time. Maturity time (MAT) is one of major yield components in wheat, which has two components: the heading date (HD) and grain-filling period (GFP). Using the Illumina Infinium 25k platform we analyzed the genetic control of the HD, GFP and MAT in the F2 and F2:3 populations from a cross between late-ripening spring/winter line 124-1 and spring wheat cultivar Novosibirskaya 31, possessing the same allelic composition of the VRN1 and PPD-D1 genes.

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature.

Olfactory-to-visual facilitation in the infant brain declines gradually from 4 to 12 months.

During infancy, intersensory facilitation declines gradually as unisensory perception develops. However, this trade-off was mainly investigated using audiovisual stimulations. Here, fifty 4- to 12-month-old infants (26 females, predominately White) were tested in 2017-2020 to determine whether the facilitating effect of their mother's body odor on neural face categorization, as previously observed at 4 months, decreases with age.

A Transcriptome Response of Bread Wheat ( L.) to a 5B Chromosome Substitution from Wild Emmer.

Over the years, alien chromosome substitution has attracted the attention of geneticists and breeders as a rich source of remarkable genetic diversity for improvement in narrowly adapted wheat cultivars. One of the problems encountered along this way is the coadaptation and realization of the genome of common wheat against the background of the introduced genes. Here, using RNA-Seq, we assessed a transcriptome response of hexaploid wheat L.

Identification of Novel Loci Precisely Modulating Pre-Harvest Sprouting Resistance and Red Color Components of the Seed Coat in L.

The association between pre-harvest sprouting (PHS) and seed coat color has long been recognized. Red-grained wheats generally exhibit greater PHS resistance compared to white-grained wheat, although variability in PHS resistance exists within red-grained varieties. Here, we conducted a genome-wide association study on a panel consisting of red-grained wheat varieties, aimed at uncovering genes that modulate PHS resistance and red color components of seed coat using digital image processing.

Growth factor-induced activation of MSK2 leads to phosphorylation of H3K9me2S10 and corresponding changes in gene expression.

Extracellular signals are transmitted through kinase cascades to modulate gene expression, but it remains unclear how epigenetic changes regulate this response. Here, we provide evidence that growth factor-stimulated changes in the transcript levels of many responsive genes are accompanied by increases in histone phosphorylation levels, specifically at histone H3 serine-10 when the adjacent lysine-9 is dimethylated (H3K9me2S10). Imaging and proteomic approaches show that epidermal growth factor (EGF) stimulation results in H3K9me2S10 phosphorylation, which occurs in genomic regions enriched for regulatory enhancers of EGF-responsive genes.

Voice categorization in the four-month-old human brain.

Voices are the most relevant social sounds for humans and therefore have crucial adaptive value in development. Neuroimaging studies in adults have demonstrated the existence of regions in the superior temporal sulcus that respond preferentially to voices. Yet, whether voices represent a functionally specific category in the young infant's mind is largely unknown.

High frequency oscillations in relation to interictal spikes in predicting postsurgical seizure freedom.

We evaluate whether interictal spikes, epileptiform HFOs and their co-occurrence (Spike + HFO) were included in the resection area with respect to seizure outcome. We also characterise the relationship between high frequency oscillations (HFOs) and propagating spikes. We analysed intracranial EEG of 20 patients that underwent resective epilepsy surgery.

[Actual nutrition in adults with familial hypercholesterolemia].

Familial hypercholesterolemia (FH) is a highly atherogenic, genetically based lipid disorder. For patients with FH, dietary modification is the cornerstone of complex lipidlowering therapy. of the research was to assess the actual nutrition in adults with familial hypercholesterolemia.

Magnetothermal spider silk-based scaffolds for cartilage regeneration.

Developing biocompatible, magnetically controlled polymers is a multifunctional solution to many surgical complications. By combining nanoparticle technology with the latest advancements in polymer materials science, we created a multicomponent hybrid system comprised of a robust native spider silk-based matrix; a MnZnFeO nanoparticles coating to provide a controlled thermal trigger for drug release; and liposomes, which act as drug carriers. Fluorescent microscope images show that the dye loaded into the liposomes is released when the system is exposed to an alternating magnetic field due to heating of ferromagnetic nanoparticles, which had a low Curie temperature (40-46°С).

Novel Genetic Loci from Associated with Gluten Content Revealed by GWAS in Wheat Breeding Lines.

The content and quality of gluten in wheat grain is a distinctive characteristic that determines the final properties of wheat flour. In this study, a genome-wide association study (GWAS) was performed on a wheat panel consisting of bread wheat varieties and the introgression lines (ILs) obtained via hybridization with tetraploid wheat relatives. A total of 17 stable quantitative trait nucleotides (QTNs) located on chromosomes 1D, 2A, 2B, 3D, 5A, 6A, 7B, and 7D that explained up to 21% of the phenotypic variation were identified.

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed.

The secret life of chromatin tethers.

The nuclear envelope plays an essential role in organizing the genome inside of the nucleus. The inner nuclear membrane is coated with a meshwork of filamentous lamin proteins that provide a surface to organize a variety of cellular processes. A subset of nuclear lamina- and membrane-associated proteins functions as anchors to hold transcriptionally silent heterochromatin at the nuclear periphery.

PRR14 organizes H3K9me3-modified heterochromatin at the nuclear lamina.

The eukaryotic genome is organized in three dimensions within the nucleus. Transcriptionally active chromatin is spatially separated from silent heterochromatin, a large fraction of which is located at the nuclear periphery. However, the mechanisms by which chromatin is localized at the nuclear periphery remain poorly understood.