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Genomes and Genes | Roberto RavazzoloSummaryAffiliation: University of Genoa Country: Italy Publications
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Publications
Genomic approaches in genetic research for endocrine diseasesRoberto Ravazzolo
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Endocr Dev 11:1-5. 2007..Such approaches have been applied to gene-directed as well as genome-wide investigations...- Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell linesEmanuele Panza
Laboratory of Molecular Genetics, G, Gaslini Institute, Genova, Italy
Pathogenetics 1:5. 2008..Moreover, later in life some of them develop the additional features of sensorineural hearing loss, cataracts and/or glomerulonephritis that sometimes leads to end stage renal failure... - A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung diseasePaola Griseri
Laboratory of Molecular Genetics, Institute G Gaslini, Genova, Italy
Hum Mutat 28:168-76. 2007..Such a functional effect of this common RET variant explains the under-representation of the whole haplotype and its role as a modifying factor in HSCR pathogenesis... - Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related diseaseMonica Marini
Laboratory of Molecular Genetics, G Gaslini Institute, 16147 Genova, Italy
Int J Mol Med 17:729-36. 2006.... - Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation SyndromeSara Parodi
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy
Hum Mutat 29:206. 2008..This strengthens the notion that expanded polyalanine tracts, identified as frequent disease-causing mutations also in other human diseases, are mitotically and meiotically stable... - A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini
Molecular Genetics and Cytogenetics Unit, G Gaslini Institute, Genova, Italy
Genet Med 12:431-9. 2010..Inter- and intrafamilial variable expressivity of the clinical phenotype is a common finding. Mutations in the human LMX1B gene have been demonstrated to be responsible for Nail-Patella syndrome in around 80% of cases... - Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Hum Mutat 28:724-31. 2007..Several evidences support the conclusion that the proband's abnormal phenotype is associated with C-type natriuretic peptide overexpression... - MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Medicine (Baltimore) 82:203-15. 2003..For this new nosologic entity, we propose the term "MHY9-related disease," which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects... - Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locusFrancesca Puppo
Laboratory of Molecular Genetics, Giannina Gaslini Institute, Genova, Italy
Physiol Genomics 23:269-74. 2005..This paper presents a reliable screening procedure to unearth elements able to affect gene regulation at the transcriptional level in a large genomic region... - A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiationPaola Zordan
Laboratory of Molecular Genetics, G. Gaslini Institute, Largo G. Gaslini 5, 16147 Genova, Italy
Int J Mol Med 16:325-31. 2005..Using P19 teratocarcinoma cells differentiated by retinoic acid treatment, we observed an induction of Ret mRNA accompanied by a decrease of SP1 binding due to its proteolytic cleavage... - Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patientsRenato Marciano
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Clin Immunol 131:84-91. 2009..These results suggest that SPP1 can play a role as susceptibility gene, possibly by a sex-specific mechanism acting in the autoimmune process... - Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genesSilvia Borghini
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Eur J Hum Genet 15:848-55. 2007.... - Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1Aldamaria Puliti
Molecular Genetics and Cytogenetics Unit, G Gaslini Institute, Genova, Italy
Am J Pathol 178:1257-69. 2011..Analogously, we speculate that mGlu1 receptor may regulate foot process morphology and intercellular signaling in the podocyte... - crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1)Valerio Conti
Laboratory of Molecular Genetics, G Gaslini Institute, 16148 Genova, Italy
Int J Mol Med 18:593-600. 2006..crv4 is an interesting model to extend the study of Grm1 function and the pathological effects of Grm1 deficiency in vivo... - Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndromeTiziana Bachetti
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy
Hum Mol Genet 14:1815-24. 2005..Moreover, the frameshift due to deletion of a cytosine residue seems to cause sequestration of the corresponding mutant PHOX2B in the nucleolar compartment... - Teaching molecular genetics: chapter 4-positional cloning of genetic disordersAldamaria Puliti
Laboratory of Molecular Genetics, Istituto G Gaslini, Genoa, Italy
Pediatr Nephrol 22:2023-9. 2007..Altogether, positional cloning has represented a fundamental step in the research on genetic renal disorders, leading to the definition of several disease mechanisms and allowing a proper diagnostic approach to many conditions... - Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 geneRenata Bocciardi
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Hum Mutat 26:426-36. 2005..This finding is of particular interest because it suggests that TCBA1 may be correlated with the neurological phenotype of our patient, and possibly mutated in genetic diseases with a neurological phenotype... - Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander diseaseTiziana Bachetti
Laboratory of Molecular Genetics, G Gaslini Institute, Genoa, Italy
Eur J Hum Genet 16:462-70. 2008..R239C mutant only a partial rescue effect could be achieved... - A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana Bachetti
Istituto G Gaslini, Genova, Italy
Ann Hum Genet 74:506-15. 2010..Therefore, these SNP alleles may, among others, mediate the effects of GFAP mutations, thus explaining the phenotypic heterogeneity of Alexander disease... - The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic micePaola Zordan
Laboratory of Molecular Genetics, Giannina Gaslini Institute, 16147 Genoa, Italy
Int J Mol Med 18:601-8. 2006..In particular, proper expression in the developing excretory system seemed quite significant when considering that the appropriate regulation was obtained with a very short, 380 bp, fragment of Ret 5' flanking sequence... - Polymorphisms in the osteopontin promoter affect its transcriptional activityFrancesca Giacopelli
Laboratory of Molecular Genetics G Gaslini Institute, Genova, Italy
Physiol Genomics 20:87-96. 2004.... - Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypesPaolo Catarsi
Department of Nephrology, G Gaslini Institute, Genova, Italy
Hum Mol Genet 14:2357-67. 2005.... - Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndromeMonica Marini
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Eur J Hum Genet 13:789-92. 2005..Such interaction provides support to further studies on pathways underlying important developmental processes... - Genetic heterogeneity in inherited spastic paraplegia associated with epilepsyCristiana Lo Nigro
Laboratorio Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Am J Med Genet A 117:116-21. 2003..These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed... - C-type natriuretic peptide and overgrowthRenata Bocciardi
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Endocr Dev 14:61-6. 2009.... - Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channelsNicoletta Pedemonte
Laboratory of Molecular Genetics, Istituto Giannina Gaslini, Genova, Italy
J Immunol 178:5144-53. 2007..Defects in SCN(-) transport in the airways may be responsible for susceptibility to infections and/or decreased ability to scavenge oxidants... - Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancementsRenata Bocciardi
Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
Eur J Hum Genet 17:311-8. 2009..The novel amino-acid substitution is predicted to influence either the conformation/stability of the GS region or the binding affinity with FKBP12, resulting in a less stringent inhibitory control on the ACVR1 kinase activity... - The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancerFrancesca Giacopelli
Laboratory of Molecular Genetics, G. Gaslini Institute, Largo G. Gaslini 5, 16148 Genova, Italy
Gene Expr 11:95-104. 2003..We found a bi-allelic sequence polymorphism at +245 in the first intron, which did not show a significant functional effect, but is a useful tool for future association studies... - IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitroLuis J V Galietta
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy
J Immunol 168:839-45. 2002..This could be required to fluidify the mucus, which is hypersecreted during inflammatory conditions. On the other hand, the modifications of ion transport could also affect the ion composition of airway surface fluid... - Double mechanism for apical tryptophan depletion in polarized human bronchial epitheliumOlga Zegarra-Moran
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G Gaslini 5, Genoa 16148, Italy
J Immunol 173:542-9. 2004..This work suggests that human airway epithelial cells maintain low apical tryptophan concentrations by two mechanisms, a removal through a Na(+)-dependent amino acid transporter and an IFN-gamma-inducible degradation by IDO... - Effect of inflammatory stimuli on airway ion transportLuis J V Galietta
Laboratory of Molecular Genetics, Istituto Giannina Gaslini, Largo Gerolamo Gaslini, 5, 16148 Genoa, Italy
Proc Am Thorac Soc 1:62-5. 2004..These results suggest that some inflammatory stimuli may change the balance between fluid absorption and secretion to favor hydration of the airway surface and consequently mucus clearance... - The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi
Laboratory of Molecular Genetics, G Gaslini Institute, Largo G Gaslini 5, 16148, Genoa, Italy
J Neurol 257:598-602. 2010..As for other known forms of inherited ataxias, absence of mutations in GRM1 seems to suggest a relatively low frequency in cerebellar ataxias... - Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndromeAnwar Baban
Laboratory of Molecular Genetics, G. Gaslini Hospital, Genova, Italy
Am J Med Genet A 146:384-8. 2008 - Poland syndrome with bilateral features: case description with review of the literatureAnwar Baban
Laboratory of Molecular Genetics, Gaslini Children Hospital, Genova, Italy
Am J Med Genet A 149:1597-602. 2009..In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed... - A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Hum Mutat 25:189-95. 2005.... - MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverAndrea D'Osualdo
Divisione Pediatria II Clinica Pediatrica, Genova, Italy
Eur J Hum Genet 13:314-20. 2005..Our study demonstrates that MKD is a common cause of recurrent fever also in the Italian population, where it is associated with both a wide spectrum of previously unreported MVK mutations and peculiar phenotypic features... - Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNAEmanuela Caci
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L go G Gaslini, 5, Genova, I 16148, Italy
Am J Respir Cell Mol Biol 40:211-6. 2009.... - Is there a biological basis for treatment of fibrodysplasia ossificans progressiva with rosiglitazone? Potential benefits and undesired effectsRenata Bocciardi
Molecular Genetics Unit, G Gaslini Institute, 16147 Genova, Italy
PPAR Res 2010:541927. 2010.... - Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)Gian Marco Ghiggeri
Laboratory on Pathophysiology of Uremia and Laboratory of Molecular Genetics, Istituto di Ricerca e Cura a Carattere Scientifico G Gaslini, Genova, Italy
Am J Kidney Dis 41:95-104. 2003..Although it recently was shown that FTNS derives from mutation of MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA), its pathophysiological characteristics remain unknown... - Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variabilityMonica Marini
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Am J Med Genet A 117:112-5. 2003..The identification of this mutation allowed us to give a prenatal diagnosis in this family and confirms a wide intrafamilial variability in the phenotypic spectrum... - Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expressionFrancesca Puppo
Laboratory of Molecular Genetics, G. Gaslini Institute, Largo G. Gaslini 5, 16148, Genova, Italy
FEBS Lett 523:123-7. 2002..Concluding, chromatin acetylation targeted to functional sequences in the RET regulatory region may control its transcription... - TMEM16A, a membrane protein associated with calcium-dependent chloride channel activityAntonella Caputo
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova 16148, Italy
Science 322:590-4. 2008.... - Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokinesGiovanni Candiano
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G Gaslini 5, Genoa 16148, Italy
Am J Physiol Lung Cell Mol Physiol 292:L185-98. 2007..Our results indicate that the surface epithelium is an active player in the epithelial barrier function and that inflammatory conditions may modulate protein secretion... - Structure-activity relationship of 1,4-dihydropyridines as potentiators of the cystic fibrosis transmembrane conductance regulator chloride channelNicoletta Pedemonte
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L go Gerolamo Gaslini 5, 16148 Genova, Italy
Mol Pharmacol 72:197-207. 2007..Our results show that alkyl substitutions at the para position of the 4-phenyl ring lead to compounds with very low activity on Ca(2+) channels and strong effect as potentiators on the DeltaPhe508, G551D, and G1349D CFTR mutants... - Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutationsNicoletta Pedemonte
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go Gerolamo Gaslini, 5, 16147 Genova, Italy
Mol Pharmacol 68:1736-46. 2005..DHP activity was confirmed in airway epithelial cells from patients with CF. DHPs may represent a novel class of therapeutic agents able to correct the defect caused by a set of CF mutations... - Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesisEmanuela Caci
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L go Gerolamo Gaslini 5, 16147 Genova, Italy
Biochem J 413:135-42. 2008..The results of the present study provide evidence that CFTR(inh)-172 interacts directly with CFTR, and that Arg347 is important for the interaction...