Research Topics
Genomes and Genes | L RigoliSummaryAffiliation: University of Messina Country: Italy Publications
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Detail Information
Publications
Wolfram syndrome 1 and Wolfram syndrome 2Luciana Rigoli
Department of Pediatrics, Medical School, University of Messina, Messina, Italy
Curr Opin Pediatr 24:512-7. 2012..The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22...
Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel diseaseLuciana Rigoli
Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Policlinico Universitario, Messina 98125, Italy
World J Gastroenterol 14:4454-61. 2008....
Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian childrenLuciana Rigoli
Department of Pediatrics, Medical School, University of Messina, Messina, Italy
Allergy Asthma Proc 28:667-70. 2007..Our results suggest that the -112G/A polymorphism does not play a significant role in the genetic predisposition of the UGRP1 gene in atopic asthma in the Sicilian population...
Molecular analysis of the CART gene in overweight and obese Italian children using family-based association methodsL Rigoli
Department of Pediatrics, University Hospital, Messina, Italy
Acta Paediatr 99:722-6. 2010..In our study, we evaluated if CART gene A1475G and DeltaA1457 polymorphisms could be associated with obesity...
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathiesLuciana Rigoli
Department of Pediatrics, Genetics Unit, University School of Medicine, Messina, Italy
Pediatr Res 56:988-93. 2004..Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children...
Wolfram syndrome and WFS1 geneL Rigoli
Department of Pediatrics, University Hospital, Messina, Italy
Clin Genet 79:103-17. 2011..Here we review the data regarding the mechanisms and the mutations of WFS1 gene that relate to WS...
Molecular analysis of beta-thalassaemia patients in a high incidence area of southern ItalyL Rigoli
Department of Paediatrics, University of Messina, School of Medicine, Italy
Clin Lab Haematol 23:373-8. 2001..This is of particular importance for genotype-phenotype correlation and for carrier detection, genetic counselling and prenatal diagnosis...
Investigation of the eotaxin gene -426C-->T, -384A-->G and 67G-->a single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methodsL Rigoli
Department of Paediatrics, School of Medicine, University of Messina, Italy
Clin Exp Dermatol 33:316-21. 2008..Eotaxin plays an important role in atopic dermatitis (AD) as a potent chemoattractant and activator of eosinophils and T-helper 2 lymphocytes...
TLR4 and NOD2/CARD15 genetic polymorphisms and their possible role in gastric carcinogenesisL Rigoli
Department of Pediatrics, Messina University, Italy
Anticancer Res 30:513-7. 2010..The aim of this study was to evaluate the role of TLR4 and NOD2/CARD15 genes in gastric carcinogenesis...
TLR2 and TLR4 gene polymorphisms and atopic dermatitis in Italian children: a multicenter studyC Salpietro
Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Italy
Int J Immunopathol Pharmacol 24:33-40. 2011..175.17; RR 2.24; 95 percent CI 1.15-4.45). CONCLUSION Children with AD may have a distinct genotype and the TLR-2 R753Q SNP was prevalent in a subset of patients with AD characterized by a more severe clinical picture...
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic familiesL Rigoli
Department of Pediatrics, University of Messina, School of Medicine, Italy
Allergy 59:213-8. 2004..Our results have not pointed out an association between the (C590T) promoter polymorphism of the IL-4 gene and atopy. These data suggest the potential role of the Fc RI beta gene in the development of the allergy...
Foveolar cells phagocytose apoptotic neutrophils in chronic active Helicobacter pylori gastritisR A Caruso
Department of Human Pathology, School of Medicine, University of Messina, Messina, Italy
Virchows Arch 461:489-94. 2012..pylori strains, compatible with an anti-inflammatory role for the gastric epithelial cells in their removal of apoptotic neutrophils during active chronic gastritis...
Ultrastructural observations on the microvasculature in advanced gastric carcinomasR A Caruso
Department of Human Pathology, Policlinico Universitario, Messina, Italy
Histol Histopathol 16:785-92. 2001..The implications of perivascular fibrosis on the delivery of immune cells to gastric carcinomas are discussed...
Modifications of nuclear envelope in tumour cells of human gastric carcinomas: an ultrastructural studyR A Caruso
Department of Human Pathology, University Hospital, I 98125 Messina, Italy
Anticancer Res 30:699-702. 2010..Various nuclear envelope derivatives, such as the annulate lamellae, the intranuclear tubules as well as the nuclear projections and pockets may be observed electron microscopically in tumour cells...
Mitochondrial 3243 BP mutation: a case reportL Rigoli
Department of Paediatric, School of Medicine, University of Messina, Italy
Diabetes Nutr Metab 14:343-8. 2001..Our study points out the variable phenotypic expression of this mitochondrial mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype...
Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitusL Rigoli
Medical Genetics Unit, Department of Pediatrics, University of Messina School of Medicine, I 98100 Messina, Italy
Acta Diabetol 36:163-7. 1999..Further studies will be aimed at investigating the prevalence of mutations and deletions of mtDNA in type 2 diabetes mellitus...
Gene-environment interaction in childhood asthmaL Rigoli
Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Italy
Int J Immunopathol Pharmacol 24:41-7. 2011..This review presents recent findings illustrating the role of gene-environment interactions in childhood asthma susceptibility...
[The role of the incidence of genetic abnormalities on the onset and on the results of the surgical repair of varicocele]Maurizio Rossitto
Universita degli Studi di Messina, Policlinico Universitario G Martino, Messina
Ann Ital Chir 81:161-3. 2010....
Mast cell interaction with tumor cells in small early gastric cancer: ultrastructural observationsR A Caruso
Department of Human Pathology, University of Messina, Italy
Ultrastruct Pathol 21:173-81. 1997..The findings suggest that T mast cells may be involved in the pathophysiology of the host reaction to small intramucosal EGC...
Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2Chiara di Bella
, Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, pad NI, Policlinico Universitario, Messina, Italy
Ann Hematol 85:829-31. 2006....
Focal parietal cell differentiation in a well-differentiated (intestinal-type) early gastric cancerR A Caruso
Dipartimento di Patologia Umana, Policlinico Universitario, Messina, Italy
Ultrastruct Pathol 24:417-22. 2000..These ultrastructural data suggested a gastric epithelial cell differentiation. The implications with regard to the classification and histogenesis of this tumor are discussed...
Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of monozygotic twins about PAX9 mutationD Militi
Department of Dentistry, University of Messina, Italy
Eur J Paediatr Dent 12:21-4. 2011..The aim of the present study was to screen the candidate gene causing the non syndromic hypodontia, with agenesis of upper third molars and upper lateral incisors, in three couples of twins...
Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerationsS Gangemi
Division and School of Allergy and Clinical Immunology, Department of Human Pathology, University of Messina, Messina, Italy
Acta Haematol 110:45-7. 2003
Prognostic value of intratumoral neutrophils in advanced gastric carcinoma in a high-risk area in northern ItalyRosario Alberto Caruso
Dipartimento di Patologia Umana, Policlinico Universitario G Martino, Messina, Italy
Mod Pathol 15:831-7. 2002....
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern ItalyAlessia Colosimo
CSS Mendel Institute, Viale Regine Margherita 261, 00198 Rome, Italy
Genet Test 7:269-75. 2003..Because of this property our protocol has the potential to be implemented for mutational screening in different areas of high prevalence for beta-thalassemia...
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assayAlessia Colosimo
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Hum Mutat 21:622-9. 2003..Overall, this study represents the molecular characterization of the largest cohort of Italian WS patients and carriers studied so far, and increases the number of identified WFS1 allelic variants worldwide...
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriersValentina Guida
Haematologica 91:409-10. 2006..Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants...
