Research Topics
| Antonella RoettoSummaryAffiliation: University of Turin Country: Italy Publications
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Detail Information
Publications
Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissuesAntonella Roetto
Department of Clinical and Biological Science, University of Torino, Turin, Italy
Blood 115:3382-9. 2010..Our results strengthen the function of hepatic alpha-Tfr2 in hepcidin activation, suggest a role for extrahepatic Tfr2 and indicate that beta-Tfr2 may specifically control spleen iron efflux...
Hemochromatosis due to mutations in transferrin receptor 2Antonella Roetto
Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
Blood Cells Mol Dis 29:465-70. 2002..Although the rarity of TFR2 mutations limits their usefulness in diagnostic/screening programs, their study can contribute to a better understanding of the protein function...- Pathogenesis of hyperferritinemia cataract syndromeAntonella Roetto
Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
Blood Cells Mol Dis 29:532-5. 2002..These findings suggest that, besides the L-ferritin IRE genotype, additional factors are likely to modulate the lens involvement and the rate of progression to severe cataract in HHCS patients... - Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overloadAlessandro Bondi
Dipartimento di Scienze Cliniche e Biologiche, , Azienda Ospedaliera San Luigi, Orbassano, Turin, Italy
Haematologica 90:1161-7. 2005..Furthermore, taken the differences in gene expression in dietary overload (increased Hfe but not Tfr2), distinct roles are suggested for Hfe and Tfr2 in Hepc activation... 
Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavengingEmanuela Messa
Department of Clinical and Biological Sciences, San Luigi Hospital, University of Turin, Regione Gonzole 10, 10043 Orbassano, Torino, Italy
Haematologica 95:1308-16. 2010..Nuclear factor-kappaB is a key regulator of many cellular processes and its impaired activity has been described in different myeloid malignancies including myelodysplastic syndromes...- Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)Antonella Roetto
Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Turin, Italy
Blood 103:2407-9. 2004..We identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide... - Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosisAntonella Roetto
Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy
Nat Genet 33:21-2. 2003..Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis... - New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosisAntonella Roetto
Dipartimento di Scienze Cliniche e Biologiche, , Azienda Ospedaliera San Luigi Gonzaga, Regione Gonzole, 10, 10043 Orbassano, Torino, Italy
Best Pract Res Clin Haematol 18:235-50. 2005..This finding indicates a fundamental role of hepcidin in inhibiting both iron absorption from duodenal cells and iron release from macrophages, and has opened up a new view of haemochromatosis as a disorder of hepcidin... - Genetic haemochromatosis: genes and mutations associated with iron loadingClara Camaschella
Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Universita di Torino, 10043 Orbassano Turin, Italy
Best Pract Res Clin Haematol 15:261-76. 2002..The identification of all of the genes associated with haemochromatosis is critical for molecular-based diagnosis and central to our understanding of the regulation of iron homeostasis... - Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.)Clara Camaschella
Dipartimento di Scienze Cliniche e Biologiche, , Azienda Ospedaliera San Luigi Gonzaga, 10143 Orbassano, Turin, Italy
Blood Cells Mol Dis 29:83-4; author reply 85. 2002 - Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-upRoberto Miniero
Department of Clinical and Biological Sciences, Department of Clinical and Biological Sciences, Orbassano (TO) Italy
Pediatr Hematol Oncol 22:163-6. 2005.... - A child with hyperferritinemia: case reportMelania Serra
Division of Pediatrics and Thalassemia Center, Department of Clinical and Biological Sciences, University of Torino, S, Luigi Gonzaga Hospital, Orbassano TO, 10043, Italy
Ital J Pediatr 37:20. 2011.... - Juvenile hemochromatosisClara Camaschella
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
Semin Hematol 39:242-8. 2002..The severity and the early expression of juvenile hemochromatosis suggest that the gene product has a crucial role in the regulation of iron homeostasis... - Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutationsSandra Bosio
Dipartimento di Scienze Cliniche e Biologiche, , Azienda Ospedaliera San Luigi, 10043-Orbassano, Turin, Italy
Blood 100:2246-8. 2002..We propose that anemia, secondary to the impaired macrophage iron release, plays a major role in hepatic iron overload through increased absorption mediated by the erythroid regulator... - Natural history of juvenile haemochromatosisMarco De Gobbi
Dipartimento di Scienze Cliniche e Biologiche, , Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
Br J Haematol 117:973-9. 2002..Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes... - Detection of humoral immune responses against WT1 antigen in patients affected by different hematological malignanciesPaolo Nicoli
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
Acta Haematol 120:47-50. 2008 - Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y alleleGiorgio Biasiotto
Dipartimento Materno Infantile e Tecnologie Biomediche, Universita di Brescia, A O Spedali Civili, Brescia, Italy
Blood Cells Mol Dis 33:338-43. 2004..However, they are rare and explain only a minor portion of the variable penetrance of the disorder... - A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4Antonella Roetto
Blood 100:733-4. 2002 - Juvenile hemochromatosis HJV-related revealed by cardiogenic shockMounir Filali
Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
Blood Cells Mol Dis 33:120-4. 2004..This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications... - Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overloadAlberto Piperno
Haematologica 89:359-60. 2004..They both carried the Y250X mutation of the TFR2 gene in the homozygous state. We suggest that transferrin receptor-2 is important in maintaining iron balance in the first decades of life... - Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosisCarmela Lanzara
Dipartimento di Patologia Generale, II Universita di Napoli, Italy
Blood 103:4317-21. 2004..Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function... - Hepcidin is decreased in TFR2 hemochromatosisElizabeta Nemeth
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Blood 105:1803-6. 2005..The only 2 cases with normal hepcidin values had concomitant inflammatory conditions. Our data indicate that TFR2 is a modulator of hepcidin production in response to iron... - Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian populationSylvain R Rivard
SAGEN PHARMA, , Ville de Saguenay, , Canada
Eur J Hum Genet 11:585-9. 2003..02 was observed with marker D1S2344. A common ancestral haplotype, showing the presence of a founder effect, was identified. The analysis of recombinants allowed us to confirm the JH candidate region... - Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemiaLucia De Franceschi
Dipartimento di Medicina Clinica e Sperimentale, , Verona, Italy
Haematologica 91:1336-42. 2006..Inflammatory cytokines did not play a major role in increasing hepcidin levels or in modifying iron homeostasis in this study... - A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by ironGraça Porto
Blood 106:2922-3. 2005 - Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndromeGraça Porto
Santo Antonio General Hospital, Porto, Portugal
Clin Endocrinol (Oxf) 61:437-40. 2004.... - Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 geneDomenico Girelli
Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy
Gastroenterology 122:1295-302. 2002..Here we report data from a family carrying a new mutation of the transferrin receptor 2 gene...