A5043315557- MicroRNA in disease regulation
- Connective tissue disorders research
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Cell Adhesion Molecules Research
- Inflammatory mediators and NSAID effects
- Pancreatitis Pathology and Treatment
- Melanoma and MAPK Pathways
- RNA Research and Splicing
- RNA Interference and Gene Delivery
- Cancer-related molecular mechanisms research
- Bone and Dental Protein Studies
- Peroxisome Proliferator-Activated Receptors
- Gastrointestinal disorders and treatments
- Pediatric Hepatobiliary Diseases and Treatments
- Carbohydrate Chemistry and Synthesis
- melanin and skin pigmentation
- Circular RNAs in diseases
- Cystic Fibrosis Research Advances
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Genomics and Chromatin Dynamics
- Nonmelanoma Skin Cancer Studies
- Hedgehog Signaling Pathway Studies
- Amyotrophic Lateral Sclerosis Research
University of Verona
2015-2024
Pediatrics and Genetics
2017
Cystic Fibrosis Research Foundation
2001
Eunice Kennedy Shriver Center
2000
University of Connecticut
2000
Laboratoire de Recherche Scientifique
1994
Hôpital des Enfants
1994
Centre National de la Recherche Scientifique
1994
Université Paris Cité
1994
University of Pavia
1991
Lymphoblastoid cells grown in the presence of deacetylase inhibitor butyrate were used to isolate nucleosomal particles a hyperacetylated state. During non-denaturing gel electrophoresis these revealed heterogeneity which is only part due nonhistone proteins. Monomers that are free from histone H1 and high-mobility-group (HMG) proteins 14 17 yield subfractionation according degree core acetylation beyond limiting value 10 acetyl groups/particle. It shown hyperacetylation provides with low...
Targeted therapy with BRAF and MEK inhibitors has improved the survival of patients BRAF-mutated metastatic melanoma, but most relapse upon onset drug resistance induced by mechanisms including genetic epigenetic events. Among alterations, microRNA perturbation is associated development kinase inhibitor resistance. Here, we identified studied role miR-146a-5p dysregulation in melanoma resistance.The miR-146a-5p-regulated NFkB signaling network was drug-resistant cell lines tumor samples...
Many Cystic Fibrosis (CF) carriers have been detected testing some subjects with chronic pancreatititis for a limited number of mutations. The aim this study was to find out if pancreatitis and CFTR mutation actually carry another, undetected mutation. We screened 18 mutations plus the intron 8 poly(T) tract length population 67 patients suffering from idiopathic either acute, or recurrent pancreatitis. Three them were diagnosed as affected by CF. Among others, subset 14 (8 carriers, 4 5T 2...
Overexpression of cyclooxygenase-2 (COX-2), resulting in excessive prostaglandin production, has been observed human epidermal keratinocytes after ultraviolet B injury, squamous cell skin carcinoma (SCC), actinic keratoses, and the early stages carcinogenesis a wide variety tissues. The dysregulation COX-2 expression can part be due to functional changes affecting regulatory elements promoter or 3' untranslated region (UTR) gene. Two common polymorphisms (-765G-->C, -1195A-->G) gene (now...
Cultured fibroblasts from a patient affected with moderate form of osteogenesis imperfecta were defective for the synthesis type I collagen molecules; about half alpha 1(I) chains contained cysteine residue in triple helical domain and disulfide link formed when two mutant incorporated into heterotrimer. The proband's parents clinically biochemically normal. was localized within peptide 1(I)CB8 between residues 170 200 using chemical procedure 2-nitro-5-thiocyanobenzoic acid (Tenni, R.,...
Abstract: Solid organ transplant recipients are at higher risk of non‐melanoma skin cancer (NMSC), especially basal cell carcinoma (BCC) and squamous (SCC). Genetic alterations in the production detoxifying enzymes such as glutathione S‐transferase (GST) CYP1A1 may enhance this risk. We investigated frequency GST genotypes (GSTM1, GSTM3, GSTT1 GSTP1) 239 recipients: 107 cases with NMSC 132 controls free from matched for type transplanted organ, duration transplantation, sex age. Allele...
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why heterozygotes are at increased disease risk. We recently showed that common variants associated with aberrantly spliced transcripts. Here, we genotyped tested associations in two ICP (ICP-A: 126 patients, 319 controls; ICP-B: 666 1,181 controls) a CBAVD population (305 controls). Haplotype H10 (TG11-T7-470V) conferred...
Abstract The ubiquitin‐proteasome system (UPS) plays an important role in maintaining cellular homeostasis by degrading a multitude of key regulatory proteins. FBXW11, also known as b‐TrCP2, belongs to the F‐box family, which targets proteins be degraded UPS. Transcription factors or associated with cell cycle can modulated may stimulate inhibit proliferation. Although FBXW11 has been investigated embryogenesis and cancer, its expression not evaluated osteogenic cells. With aim explore...
We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected dermal fibroblasts of proband, diagnosed by ultrasonography at 24 weeks gestation. Type I collagen secretion reduced and proαl(I) chains were overmodified. The localised one allele chemical cleavage mismatched bases normal cDNA/proband's mRNA heteroduplexes, identified cloning sequencing. A G-to-A transition causes Substitution Gly-415 with serine...
Multiple sclerosis (MS), the most common neurological disease causing disability in young adults, is widely recognised as a major stress factor. Studies have shown that first years after diagnosis are distressing terms of adjustment to and MS negatively affects patients' psychological well-being, quality life (QoL) social functioning. However, links between disease-specific variables at diagnosis, resilience patients with remain largely unexplored, especially adolescents adults. This...
Circulating microRNAs have emerged as novel multiple sclerosis (MS) biomarkers.To assess the association between candidate miR expression in serum samples of patients with MS and disease course.Serum levels ten (ie, miR-199, miR-128-3p, miR-20a-5p, miR-27a-3p, miR-15b-5p, miR-325, miR-92a1-5p, miR-223-5p, miR-22-5p, miR-23a-5p) were measured 74 cases 17 non-MS controls consecutively enrolled at Verona University Hospital. The microRNA patients' clinical MRI features was analyzed. Candidate...
Adipogenesis is a complex process in which cell commitment and mitotic clonal expansion (MCE) are in-sequence crucial events leading to terminal adipocyte differentiation. The molecules able block some key signals this cascade can hamper adipogenesis becoming promising agents counteract hyperplasia hypertrophy of adipose tissue. Mono- di-caffeoylquinic acid isomers biologically active polyphenols, displaying vitro vivo antioxidant, hepatoprotective, anti-diabetic anti-obesity properties....
We describe a new dominant mutation of type I collagen responsible for recurrent lethal osteogenesis imperfecta. Dermal cultured fibroblasts the proband produced both normal and overmodified chains. Previous results (Cohen-Solal, L., Bonaventure, J., Maroteaux, P. (1991) Hum. Genet. 87, 297-301) cyanogen bromide peptide mapping after non-equilibrium pH gradient gel electrophoresis indicated that anomaly was charge localized in alpha 2CB3-5A. The identified as G to A transition COL1A2 gene,...
Background Basal cell carcinoma (BCC) is 10 times more frequent in organ transplant recipients (OTRs) than the general population. Factors OTRs conferring increased susceptibility to BCC include ultraviolet radiation exposure, immunosuppression, viral infections such as human papillomavirus, phototype and genetic predisposition. The PTCH1 gene a negative regulator of hedgehog pathway, that provides mitogenic signals basal cells skin. mutations cause naevoid syndrome, contribute development...
Onconase (ONC) is an amphibian secretory ribonuclease displaying cytostatic and cytotoxic activities against many mammalian tumors, including melanoma. ONC principally damages tRNA species, but also other non-coding RNAs, although its precise targets are not known. We investigated the ability to modulate expression of 16 onco-suppressor microRNAs (miRNAs) in A375 BRAF-mutated melanoma cell line. RT-PCR immunoblots were used measure levels miRNAs their regulated proteins, respectively. In...
Cells possessing widely different physiological and morphological features have been treated with substances known to stimulate the differentiation of erythroleukemia cells. Only short fatty acids are capable causing a hyperacetylation core histones enhancing level an H1-like protein in Chinese hamster ovary While time courses butyrate-mediated acetylation similar for all cells, maximum histone acetyl contents much higher transformed cell given type. A withdrawal butyrate rapidly (within 45...