Effects of miRNAs in inborn error of metabolism and treatment strategies.

Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.

Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey.

Purpose: Optic pathway gliomas (OPGs) occur in 15% of patients with neurofibromatosis type 1 (NF1). Their location renders biopsy or surgical resection difficult because of the risk of vision loss. Therefore, only a few NF1-OPGs have been used for tissue diagnosis, and only a few analyses have been published on the molecular changes that drive tumorigenesis.

Operational Modal Analysis, Testing and Modelling of Prefabricated Steel Modules with Different LSF Composite Walls.

The modal properties of modular structures, such as their natural frequencies, damping ratios and mode shapes, are different than those of conventional structures, mainly due to different structural systems being used for assembling prefabricated modular units onsite. To study the dynamic characteristics of modular systems and define a dynamic model, both the modal properties of the individual units and their connections need to be considered. This study is focused on the former aspect.

Utilizing a nanocomposite consisting of zinc ferrite, copper oxide, and gold nanoparticles in the fabrication of a metformin electrochemical sensor supported on a glassy carbon electrode.

The conception and development of a new electrochemical sensor is reported for the detection of metformin (MET). Zinc ferrite and copper oxide nanostructure (ZnFeO-CuO) and gold nanoparticles (AuNPs) have been used to prepare a nanocomposite in modifying a glassy carbon electrode (GCE). The unique ZnFeO-CuO/Au nanocomposite was applied as a sensor for the determination of traces of MET by some electroanalytical techniques.

Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations.

Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.

Background: Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.

The effect of parental age on NF1 patients in Turkey.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature.

In Vitro Comparison of Adipokine Export Signals.

Mammalian cells are widely used for recombinant protein production in research and biotechnology. Utilization of export signals significantly facilitates production and purification processes. 35 years after the discovery of the mammalian export machinery, there still are obscurities regarding the efficiency of the export signals.

Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation.

The transcriptional events and pathways responsible for the acquisition of the myogenic phenotype during regeneration and myogenesis have been studied extensively. The modulators that shape the extracellular matrix in health and disease, however, are less understood. Understanding the components and pathways of this remodeling will aid the restoration of the architecture and prevent deterioration under pathological conditions such as fibrosis.

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B (LAP1B), showed a homozygous c.

Adipocyte differentiation defect in mesenchymal stromal cells of patients with malignant infantile osteopetrosis.

Background: Malignant infantile osteopetrosis (MIOP) is a disorder of osteoclasts characterized by defective bone resorption and death in infancy. The multipotent mesenchymal stromal cells (MSC) and their progeny (osteoblasts) are major components of the bone marrow (BM) microenvironment and are found in close contact with cells of hematopoietic origin, including osteoclasts. We hypothesized that MSC defects may be associated with osteoclast dysfunction and osteopetrosis phenotype.

MED NORD--A tool for measuring medical students' well-being and study orientations.

Background: The relationship between medical students' well-being, motivation, and their conceptions of learning and knowledge has not been previously explored.

Aims: This study aimed to validate a research instrument intending to measure medical students' (n = 280) (1) experiences of stress, anxiety and disinterest, (2) motivational (thinking) strategies, (3) conceptions of learning and knowledge (epistemologies), and (4) approaches to learning.

Methods: We developed an instrument, MED NORD, which is a composition of scales measuring different theoretical constructs that previously have shown good predictive value, validity and reliability.

Engaging in activities involving information technology: dimensions, modes, and flow.

An engagement mode involves a subject (e.g., a user of information technology, or IT) who is engaged in an activity with an object in a certain manner (the mode).