A5089090007- Pancreatic function and diabetes
- Diabetes and associated disorders
- Cancer-related molecular mechanisms research
- Celiac Disease Research and Management
- Diabetes Management and Research
- Metabolism, Diabetes, and Cancer
- Digestive system and related health
- RNA and protein synthesis mechanisms
- Genetic factors in colorectal cancer
- Helicobacter pylori-related gastroenterology studies
- Cardiovascular Effects of Exercise
- Paraoxonase enzyme and polymorphisms
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- Molecular Biology Techniques and Applications
- Erythrocyte Function and Pathophysiology
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Gestational Diabetes Research and Management
- Genetic Neurodegenerative Diseases
- Exercise and Physiological Responses
- Cardiac electrophysiology and arrhythmias
- Genomics and Rare Diseases
- Retinal Development and Disorders
University of Naples Federico II
2013-2024
Ceinge Biotecnologie Avanzate (Italy)
2008-2024
Federico II University Hospital
2005-2024
An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis chronic complications. The aim present study was to establish relative percentage different subtypes in patients attending Italian pediatric centers influence an on therapy. This a retrospective study. clinical records 3781 consecutive (age, 0 18 years) referred 15 clinics with or impaired fasting glucose from January 1, 2007 December 31, 2012 were examined. characteristics at their first referral centers,...
<b>Background:</b> Several studies have shown an elevated prevalence of coeliac disease (CD) in sibs patients (risk 8–12%). <b>Aim and method:</b> We evaluated the risk that children with CD will also develop CD. This cohort 188 Italian families was composed probands CD, at least one sib both parents. status determined human leucocyte antigen (HLA)-DQ genotyping performed all family members. The study used a dataset triads (127 their parents) genotyped for HLA-DQ. <b>Results:</b> overall...
MiRNAs play a relevant role in regulating gene expression variety of physiological and pathological conditions including autoimmune disorders. are also important the differentiation function mouse intestinal epithelium. Our study was aimed to look for miRNA-based modulation celiac small intestine, particularly genes involved cell differentiation/proliferation mechanisms. A cohort 40 children (20 with active CD, 9 on gluten-free diet (GFD), 11 controls), were recruited at Paediatrics...
Choroideremia (CHM), an X-linked degeneration of the retinal pigmented epithelium (RPE), photoreceptors, and choroid, ultimately leads to blindness. It is caused by loss-of-function CHM gene product, Rab escort protein 1 (REP1) that involved, together with its homologue REP2, in prenylation GTPases, key regulators intracellular vesicular traffic. Here, we report molecular characterization 20 unrelated Italian families affected CHM. We identified 19 different mutations, nine which are new. In...
In the last decade Sanger method of DNA sequencing has been replaced by next-generation (NGS). NGS is valuable in conditions characterized high genetic heterogeneity such as neonatal diabetes mellitus (NDM).
Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form mellitus provoked by mutations in glucokinase gene (GCK).We screened direct sequencing 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations protein were analyzed molecular modeling. patients' biochemical, clinical and anamnestic data obtained. Mutations detected 16/30 (53%); 9 12 identified novel (p.Glu70Asp, p.Phe123Leu, p.Asp132Asn, p.His137Asp, p.Gly162Asp, p.Thr168Ala,...
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 2010, we investigated 66 diabetic children southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) sequence analysis revealed 19 28 children, six which were novel: p.Glu40Asp, p.Val154Leu, p.Arg447Glyfs, p.Lys458_Cys461del,...
MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence about 0.5-1.5%. potentially indistinguishable from other forms diabetes, however, its identification impacts on patients' quality life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test not readily accessible expensive. In addition current guidelines, aiming to establish when should be performed, proved a poor detection rate. Aim this study propose reliable easy-to-use...
Background Celiac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, minority of CD patients are DQ2/DQ8-negative. To address this issue, we retrospectively characterized haplotypes in 5,535 subjects at risk (either relatives or with CD-like symptoms) referred our center during 10-year period. Methods We identified loci DQA1/DQB1/DRB1 by sequence-specific oligonucleotide-PCR and primer-PCR; anti-transglutaminase IgA/IgG anti-endomysium IgA ELISA...
Klhl14-AS is a long noncoding RNA expressed since early specification of thyroid bud and the most enriched gene in mouse primordium at E10.5. Here, we studied its involvement carcinogenesis by analyzing expression cancer tissues different models neoplastic transformation. Compared with normal tissue cells, was significantly downregulated human carcinoma specimens, particularly anaplastic histotype, cell lines, rodent cancer. Downregulating cells decreased differentiation markers death...
Celiac Disease (CD) is a polygenic trait, and HLA genes explain less than half of the genetic variation. Through large GWAs more 40 associated non-HLA were identified, but they give small contribution to heritability disease. The aim this study improve estimate CD risk in siblings, by adding set genes. One-hundred fifty-seven Italian families with confirmed case at least one other sib both parents recruited. Among 249 sibs, 29 developed 6 year follow-up period. All individuals typed for 10...
Genotyping based on short tandem repeat (STR) regions is widely used in human identification and parentage testing, gene mapping studies, as an approach to studies the etiopathogenesis diagnosis of hereditary diseases. We wished study a new analytical that uses capillary electrophoresis multicolor fluorescence place slab gel electrophoresis.We evaluated efficiency for forensic purposes AmpFLSTR Profiler PlusTM typing kit with ABI Prism 310 Genetic Analyzer (System-2 STR), panel nine STRs...
Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic diabetes may be responsive to high-dosage thiamine treatment, in contrast deafness. Little is known about the efficacy of treatment on manifestations.Our objective report data from four Italian TRMA patients: Cases 1, 2 3, diagnosis was made at 9, 14 27 months. In 3 out 4 subjects, therapy allowed both...
Type 1 diabetes mellitus (DM) is characterized by irreversible, autoimmune, pancreatic β -cell destruction. During the disease, some patients experience a phase of Partial Clinical Remission (PCR) known as “ honeymoon .” This transitory period that insulin production residual cells following DM diagnosis and initiating therapy. In this study, we aimed to evaluate influence on immune system after onset diabetes, showed duration could be related other autoimmune conditions. For retrospective...
Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset the young (MODY). MD predominantly caused by mutation in single gene. We report case female patient with suspected and positive family history for obesity. In this patient, two gene variants have been identified next-generation sequencing (NGS): one Glucokinase (GCK) reported Human Gene Mutation Database (HGMD) literature associated GCK/MODY, other hepatocyte nuclear factor 1A...