Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Aims: Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1.

Crocin suppresses multidrug resistance in MRP overexpressing ovarian cancer cell line.

Background: Crocin, one of the main constituents of saffron extract, has numerous biological effects such as anti-cancer effects. Multidrug resistance-associated proteins 1 and 2 (MRP1 and MRP2) are important elements in the failure of cancer chemotherapy. In this study we aimed to evaluate the effects of crocin on MRP1 and MRP2 expression and function in human ovarian cancer cell line A2780 and its cisplatin-resistant derivative A2780/RCIS cells.

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Background: Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann-Pick disease type C in Russia have not been characterized.

PGA-incorporated collagen: Toward a biodegradable composite scaffold for bone-tissue engineering.

Nowadays composite scaffolds based on synthetic and natural biomaterials have got attention to increase healing of non-union bone fractures. To this end, different aspects of collagen sponge incorporated with poly(glycolic acid) (PGA) fiber were investigated in this study. Collagen solution (6.

Evaluation of Bax and Bcl-2 Proteins Expression in the Rat Hippocampus due to Childhood Febrile Seizure.

Objective: Simple Febrile Seizure (SFS) is the most common seizure disorder in childhood, and is frequently described as inoffensive disorder. Nevertheless, there is evidence suggesting the association between neonatal febrile seizures and hippocampal abnormalities in adulthood. This study was conducted at evaluating the hippocampal expression of pro-apoptotic Bax and anti-apoptotic Bcl-2 proteins following SFS induction in rat neonates.

Effect of Endothelial Cells on Angiogenic Properties of Multipotent Stromal Cells from the Umbilical Cord during Angiogenesis Modeling in the Basement Membrane Matrix.

Short-term cell culturing on basement membrane matrix is a common and very convenient in vitro model of angiogenesis. We studied the possibility of interaction of multipotent stromal cells from the umbilical cord and Ea.hy926 endothelial cells on this model at the early and late periods of the experiment.

The impacts of diabetes in pregnancy on hippocampal synaptogenesis in rat neonates.

Diabetes during the pregnancy period impairs hippocampal development, and is associated with neurocognitive and neurobehavioral problems in the offspring. Synaptogenesis is one of the most important events in the development of the nervous system, and is known as a mechanism by which the memory process takes place. Synaptophysin (SYP) is an integral membrane protein of synaptic vesicles in the hippocampus involved also in learning and memory.

Insulin-Like Growth Factor-1 Receptor Is Differentially Distributed in Developing Cerebellar Cortex of Rats Born to Diabetic Mothers.

Insulin-like growth factor-1 (IGF-1) has an important role in development of the central nervous system (CNS). Maternal diabetes is associated with a higher risk of developmental abnormalities in their offspring including motor dysfunction and learning deficits. The present study aimed to investigate the effects of maternal diabetes on the distribution pattern of IGF-1 receptor (IGF-1R) in the developing rat cerebellar cortex.

[Biochip detection of KRAS, BRAF, and PIK3CA somatic mutations in colorectal cancer patients].

Somatic mutations of KRAS, PIK3CA, and BRAF cause insensitivity of colorectal tumors to therapy with anti-EGFR monoclonal antibodies, necessitating a genetic testing prior to therapy. A biological microchip was developed and validated to allow detection of 19 somatic mutations in KRAS, PIK3CA, and BRAF genes. The method combines LNA-clamp PCR and allele-specific hybridization on a microchip and detects mutant DNA in 100 times wild-type background (1%).

Genotoxicity of single-walled carbon nanotubes: in vitro study on human embryonic fibroblast cells.

The effects of single-walled carbon nanotubes on the levels of DNA aberrations, chromosome and genome disorders were studied on human embryonic fibroblasts, their karyotype was analyzed by the spectral karyotyping method. The level of DNA aberrations increased after 3-h exposure to the nanotubes. No appreciable increase in the incidence of aberrant metaphases, micronuclei, and chromosome 1, 6, 8, 11, X, and Y aneuploidy after 24- and 48-h incubation with the nanotubes were detected.

The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations With Stroke.

Background: Epidemiological studies indicate that over the past forty years, the stroke incidence rates has increased. Factors V and II mutations are established genetic-variant risk factors for venous thrombosis; however, their contribution to stroke is a controversial issue.

Objectives: This study aimed to investigate the potential association of FV and FII mutations with stroke in an Iranian population.

Electroencephalographic characteristics of Iranian schizophrenia patients.

Schizophrenia is a prevalent psychiatric disease with heterogeneous causes that is diagnosed based on history and mental status examination. Applied electrophysiology is a non-invasive method to investigate the function of the involved brain areas. In a previously understudied population, we examined acute phase electroencephalography (EEG) records along with pertinent Positive and Negative Syndrome Scale (PANSS) and Mini Mental State Examination (MMSE) scores for each patient.

Genetic properties of blaCTX-M and blaPER β-lactamase genes in clinical isolates of Enterobacteriaceae by polymerase chain reaction.

Objectives: blaCTX-M and blaPER are two genes that encode class A extended-spectrum β-lactamases (ESBLs) and can be responsible for therapeutic problems. This study was carried out to evaluate the molecular properties of these genes in clinical isolates of Enterobacteriaceae by polymerase chain reaction (PCR), restriction digestion and sequencing.

Materials And Methods: During six months, starting from January 2012, one hundred clinical isolates of Enterobacteriaceae were collected from urinary samples.

Oxidized extracellular DNA suppresses nitric oxide production by endothelial NO synthase (eNOS) in human endothelial cells (HUVEC).

Circulating DNA from patients with cardiovascular diseases reduce the synthesis of NO in endothelial cells, which is probably related to oxidative modification of DNA. To test this hypothesis, HUVEC cells were cultured in the presence of DNA containing ~1 (nonoxidized DNA), 700, or 2100 8-oxodG/10(6) nucleosides. Nonoxidized DNA stimulated the synthesis of NO, which was associated with an increase in the expression of endothelial NO synthase.

Chromosome duplication (14q) and the genotype phenotype correlation.

The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features. The human chromosome 14 plays an important role in imprinting events importunes of a structural rearrangement is specifically when a phenotype is caused by imprinting, whereby the interpretation of genotype-phenotype correlation becomes extremely difficult.

Maternal exposure to titanium dioxide nanoparticles during pregnancy; impaired memory and decreased hippocampal cell proliferation in rat offspring.

Titanium dioxide nanoparticles (TiO2-NPs) are massively produced in the environment, and because of their wide usage, they are a potential risk of damage to human health. TiO2-NPs are often used as additives for paints, papers, and foods. The central nervous system (CNS), including hippocampal regions, is potentially susceptible targets for TiO2-NPs.

Adenoviral transduction of multipotent mesenchymal stromal cells from human adipose tissue with bone morphogenetic protein BMP-2 gene.

We determined conditions for effective transduction of multipotent mesenchymal stromal cells from human adipose tissue with adenoviral constructs carrying the gene of human bone morphogenetic protein BMP-2. The peak of transgene transcription and BMP-2 protein secretion in the transduced cultures was observed on day 6 after infection. The maximum transcription of BMP-2 gene and genes of osteogenic markers (bone sialoprotein, osteopontin, and osteocalcin) was observed in the medium containing sodium β-glycerophosphate and ascorbic acid.

A magnetic resonance imaging study of adhesio interthalamica in clinical subtypes of schizophrenia.

Context: Previous studies have suggested subtle anatomical brain differences between patients with schizophrenia and healthy control subjects. However, the results are inconsistent and there is no study investigating the various subtypes of this mental disorder separately.

Aim: This study was conducted to compare the rate of absence of adhesio interthalamica (AI), a midline brain structure, between 3 subtypes of schizophrenia (paranoid, undifferentiated, and residual) and healthy control group, using magnetic resonance imaging (MRI).

Modern principles of classification and development of nutrient media for culturing of human and animal cells.

Analysis of the main principles of classification and development of nutrient media used for culturing of human and animal cells in biology and medicine is presented. The key moments of induction and regulation of mitogenic cascades and their differences in cells of continuous lines, diploid cells, and primary cultures are discussed. Some variants of classification of nutrient media for various cell culture types are described.

Induction of osteogenic differentiation of multipotent mesenchymal stromal cells from human adipose tissue.

We studied of osteogenic differentiation of multipotent mesenchymal stromal cells from human adipose tissue. Experiments showed that 1α,25-dihydroxycalciferol is a more effective inductor of osteogenesis than dexamethasone. Comparative analysis revealed activation of gene expression for the major osteogenic markers on day 7 of culturing in a medium containing 1α,25-dihydroxycalciferol.

Assessment of DNA damage in human bone marrow cells and multipotent mesenchymal stromal cells.

We carried out a comparative analysis of DNA damage (percentage of DNA in comet tail) and frequencies of comets in apoptotic cells in BM samples and cultures of BM multipotent mesenchymal stromal cells at different terms of culturing (passages 3-11). The levels of DNA damage in mesenchymal stromal cells remained unchanged during culturing (3.5 ± 0.

Location of chromosomes in the nucleus of human mesenchymal stem cells.

For evaluation of the spatial structure of chromatin in nuclei of mesenchymal SC we determined the position of centromeres and individual chromosomes in interphase nucleus of mesenchymal SC. More than 300 nuclei in 7 cultures of mesenchymal SC were analyzed. Centromeres of chromosomes 6, 8, and 11 lie at a longer (0.

Statistical analysis of clone formation in cultures of human stem cells.

We performed a statistical analysis of clone formation from aneuploid cells (chromosomes 6, 8, 11, X) in cultures of bone marrow-derived human multipotent mesenchymal stromal cells by spontaneous level of aneuploidy at different terms of culturing (from 2 to 19 cell cycles). It was found that the duration of cell cycle increased from 65.6 h at passages 2-3 to 164.

Study of genetic stability of human bone marrow multipotent mesenchymal stromal cells.

Immunophenotype, proliferation rate, and genetic stability parameters of bone marrow multipotent mesenchymal stromal cells were studied. Despite the reduction of proliferative activity by passages 11-12, the cells retained the characteristic immunophenotype. The incidence of spontaneous aneuploidy for autosomes 6, 8, 11 and sex chromosomes was evaluated.