Human Lipodystrophies
Endocrinology Unit, Dept. of Clinical Medicine, S. Orsola-Malpighi Hospital
Via Massarenti 9, Bologna
Phone:+39(0)516364628; +393477738178
Members of the team
Carolina Cecchetti (Research fellow)
Equipment and facilities of the group and centre
- Physicians (endocrinologists, internists, biochemistries, nurses, psychologists, plastic surgeons)
- DEXA, MR-CT
- Clinical analysis lab
- Molecular diagnosis
Topics of interest
- genetic studies of lipodystrophies
- genotype/phenotype analysis
- diagnosis procedures, medical follow-up and treatment
Publications
- Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O’Rahilly S, Pasquali R. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol 2008, 159: 347-353.
- Sleigh A, Stears A, Thackray K, Watson L, Gambineri A, Nag S, Campi VI, Schoenmakers N, Brage S, Carpenter TA, Murgatroyd PR, O'Rahilly S, Kemp GJ, Savage DB. Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy. J Clin Endocrinol Metab. 2012, 97: E438-442.
- Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis. 2012, 7: 37.
- Capanni C, Squarzoni S, Cenni V, D'Apice MR, Gambineri A, Novelli G, Wehnert M, Pasquali R, Maraldi NM, Lattanzi G. Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. Cell Cycle. 2012, 11: 3568-77.