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Your search keyword '"Bottazzo, GianFranco"' showing total 20 results
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20 results on '"Bottazzo, GianFranco"'

6. KCNJ11activating mutations in Italian patients with permanent neonatal diabetes

Author

Massa, Ornella, primary, Iafusco, Dario, additional, D'Amato, Elena, additional, Gloyn, Anna L., additional, Hattersley, Andrew T., additional, Pasquino, Bruno, additional, Tonini, Giorgio, additional, Dammacco, Francesco, additional, Zanette, Giorgio, additional, Meschi, Franco, additional, Porzio, Ottavia, additional, Bottazzo, Gianfranco, additional, Crinó, Antonino, additional, Lorini, Renata, additional, Cerutti, Franco, additional, Vanelli, Maurizio, additional, and Barbetti, Fabrizio, additional

Published
2004
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7. Lysosomal Glycohydrolase Activities in Dendritic Cells: Is It a Function of Hematopoietic Stem Cells Differentiation Process?.

Author

Berardi, Anna C., primary, Manieri, Pamela, additional, Ciraci, Elisa, additional, Tribuzi, Roberto, additional, Di Girolamo, Ilaria, additional, Cavalieri, Cristina, additional, Isacchi, Giancarlo, additional, Emiliani, Carla, additional, Bottazzo, Gianfranco, additional, Orlacchio, Aldo, additional, and Martino, Sabata, additional

Published
2004
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11. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Author

Massa, Ornella, Iafusco, Dario, D'Amato, Elena, Gloyn, Anna L., Hattersley, Andrew T., Pasquino, Bruno, Tonini, Giorgio, Dammacco, Francesco, Zanette, Giorgio, Meschi, Franco, Porzio, Ottavia, Bottazzo, Gianfranco, Crinó, Antonino, Lorini, Renata, Cerutti, Franco, Vanelli, Maurizio, and Barbetti, Fabrizio

Abstract

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase ( GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (KATP) channel of the pancreatic β-cell, were found in patients with PNDM. Closure of the KATP channel exerts a pivotal role in insulin secretion by modifying the resting membrane potential that leads to insulin exocytosis. We screened the KCNJ11 gene in 12 Italian patients with PNDM (onset within 3 months from birth) and in six patients with non-autoimmune, insulin-requiring diabetes diagnosed during the first year of life. Five different heterozygous mutations were identified: c.149G>C (p.R50P), c.175G>A (p.V59M), c.509A>G (p.K170R), c.510G>C (p.K170N), and c.601C>T (p.R201C) in eight patients with diabetes diagnosed between day 3 and 182. Mutations at Arg50 and Lys170 residues are novel. Four patients also presented with motor and/or developmental delay as previously reported. We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. Permanent diabetes of non autoimmune origin can present up to 6 months from birth in individuals with KCNJ11 and EIF2AK3 mutations. Therefore, we suggest that the acronym PNDM be replaced with the more comprehensive permanent diabetes mellitus of infancy (PDMI), linking it to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes. Hum Mutat 25:22-27, 2005. © 2004 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2005
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12. ROLE OF ABERRANT HLA-DR EXPRESSION AND ANTIGEN PRESENTATION IN INDUCTION OF ENDOCRINE AUTOIMMUNITY

Author

Bottazzo, GianFranco, Hanafusa, Toshiaki, Pujol-Borrell, Ricardo, and Feldmann, Marc

Abstract

Immune responses are initiated by HLA-DR+cells, which present antigen to T cells. Observations that HLA-DR may be experimentally induced on thyroid epithelium and that HLA-DR occurs on thyrocytes in autoimmune thyroid diseases suggest a mechanism of autoimmunity with special relevance to organ-specific diseases. This involves the local aberrant expression of HLA-DR antigens by epithelial cells and their subsequent capacity to present autoantigens occurring on their surfaces to T lymphocytes. For autoantigens which T cells recognise infrequently because of their restricted tissue location and low concentration in the circulation, T-cell tolerance is unlikely, and so induction of autoreactive T cells would occur. Because interferon is the best known inducer of DR antigen expression and viral infections may predate endocrine autoimmunity, the following sequence seems likely: local viral infection which causes interferon production, or other local environmental factors which would induce DR expression, presentation of autoantigens, and subsequent autoimmune T-cell induction. These T cells would activate effector B and T cells. Whether the initial induction of autoimmune T cells leads to autoimmune disease would depend on factors such as abnormalities of the suppressor T-cell pathway, reported to coexist with autoimmunity and necessary to induce autoimmune disease in mice. This mechanism of autoimmune disease induction explains vague associations with viral infections and long latency periods before disease becomes manifest and gives a simple explanation for the well-documented association between HLA-DR and autoimmune diseases in man.

Published
1983
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20. Screening for type 1 diabetes genetic risk in newborns of continental Italy. Primary prevention (Prevefin Italy)--preliminary data.

Author

Lorini R, Minicucci L, Napoli F, Padovani P, Bazzigaluppi E, Tortoioli C, Cherubini V, Bottazzo G, Pozzilli P, Falorni A, and Buzzetti R

Subjects
Animals, Autoantibodies blood, Autoantigens immunology, Breast Feeding, Caseins administration & dosage, Caseins immunology, Cattle, Celiac Disease blood, Celiac Disease immunology, Celiac Disease prevention & control, Contraindications, Diabetes Mellitus, Type 1 diet therapy, Diabetes Mellitus, Type 1 epidemiology, Diabetes Mellitus, Type 1 genetics, Environmental Exposure, Female, Genetic Markers, Genetic Predisposition to Disease, Genotype, HLA-D Antigens genetics, Humans, Incidence, Infant Formula, Infant, Newborn, Islets of Langerhans immunology, Italy epidemiology, Male, Milk Proteins adverse effects, Molecular Mimicry, Patient Acceptance of Health Care, Vitamin D Deficiency complications, Vitamin D Deficiency drug therapy, Vitamin D Deficiency prevention & control, Diabetes Mellitus, Type 1 prevention & control, Genetic Testing, Infant Food adverse effects, Neonatal Screening, Vitamin D therapeutic use
Published
2005

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