Search results for " Biologia molecolare"

Effetti di mutazioni diverse di ras in cellule di carcinoma colorettale (HT29)

2011

Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.

2013

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the <i>LMNA</i> gene. The <i>LMNA</i> gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo <i>C1824T</i> mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing…

Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons

2020

Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool &ldquo

Analisi dell'espressione genica e dinamica della cromatinadel gene PITa2 in Paracentrotus Lividus.

2011

Identification of microbial taxa involved in cultural heritage deterioration and able to produce health hazardous substances by molecular techniques.

2008

Fungi and bacterial, wide-spread in biosphere environments, are the main microorganisms related to the deterioration of cultural assets but, moreover, complex microbial communities may emit mixed aerosol into indoor air. In this study the microbial colonization is investigated from to point of view, conservation of cultural heritage and related potential illness to visitors or professionals. The sampling was performed by non-destructive procedures on works of art surfaces, and by the gelatin membrane filter method (Sartorius) for aerosol. The identification of microbial taxa was performed by molecular analyses based on PCR, sequencing, sequence comparison techniques and, particularly for fu…

Adenocarcinomas and their derived lymphovascular emboli contain dual compartmental populations of tumor microvesicles which differ in size and possib…

2016

Adenocarcinomas and their associated lymphovascular emboli metastasize as tight aggregates of tumor cells. Using a xenograft model of human inflammatory breast cancer (Mary-X), which exhibited florid lymphovascular emboli in mice and high density tumor aggregates (spheroids) in vitro, we previously demonstrated that both emboli and spheroids are mediated by an intact overexpressed E-cadherin axis which regulates homotypic tumor cell adhesion. We now report that Mary-X spheroids secrete 5-10 fold higher levels of microvesicles (MVs) than most other carcinoma cell lines. Despite the high density of tumor cells and the strong juxtaposition of tumor cells to each other in the spheroids, interce…

Identification of GABA receptor genes and evidence of GABA signaling during embryogenesis of the sea urchin

2012

Gamma-aminobutyric acid (GABA) is the principal inhibitory neurotransmitter in the mammalian central nervous system and acts via ionotropic (GABAA-Rs) and metabotropic (GABAB-Rs) receptors. GABAA-Rs are Cl- selective hetero-pentameric channels assembled by combinations of 19 distinct gene products. Instead, GABAB-Rs are bi-subunit G-protein coupled receptors linked to K+ or Ca2+ channels. Dysfunctions of GABA-signaling (GS) cause psychotic disorders and correlate with epigenetic alterations, such as over-expression of DNA methyl transferase-1 which in turn imposes iper-methylation of GABA-regulated genes. The sea urchin embryo, which presents a rudimentary nervous system, offers a big oppor…

Distribution and Function of Gap Junction Coupling in Cortical GABAergic Neurons.

2013

Although gap junctions have been observed in GABAergic interneurons of several brain regions, this chapter focuses on the distribution and functions of gap junctions and connexins in inhibitory interneurons of the cerebral cortex and hippocampus. Evidence for interconnections mediated by electrical synapses is reported for at least eight cerebral cortex interneuron types, classified on the basis of morphology, electrophysiology and molecular markers. The main differences in the organization of these interneuronal networks are summarized in terms of homologous and heterologous electrical coupling and mutual chemical inhibition. The role of connexin36 (Cx36) in forming neuronal electrical syn…

In silico identification of the TRIM gene complement of the sea urchin and computational prediction of Helitron-N2 transposable element in the 5’ non…

2011

Glycated albumin is correlated to insulin resistance and β-cell secretory function in subjects at risk for developing diabetes

2018

Insulin resistance and β-cell secretory function represent two main issues in the pathogenesis of type 2 diabetes mellitus (T2DM). Conflicting results have been obtained about the association between glycated albumin (GA) and body mass index (BMI), insulin resistance and β-cell function in diabetic patients. Actually, the relationship (if any) between GA and the markers of glucose homeostasis and insulin resistance in subjects at risk of developing diabetes, has not been completely elucidated yet. Two hundred and one patients undergoing to oral glucose tolerance test (OGTT) were enrolled in the study. Routine laboratory tests, including fasting insulin, were performed at enrollment. GA was …