RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Variabilità e funzione delle mutazioni mitocondriali in condizioni fisiologiche e patologiche
• 2 - Oncogenesi dei Tumori cromaffini: basi genetico-molecolari e correlati fenotipici
• 3 - Studio dei meccanismi molecolari alla base dell’anomala proliferazione e funzione paratiroidea, e identificazione ed uso clinico di marcatori molecolari di carcinoma paratiroideo sporadico e familiare. Nuove acquisizione sulla prevalenza delle manifestazioni scheletriche, neuropsichiche e metaboliche dell’iperparatiroidismo primario, loro relazione con i polimorfismi del recettore del calcio ed effetti della paratiroidectomia.
• 4 - Nuove acquisizioni sul carico mutazionale e sulle possibilità di monitoraggio citogenetico e molecolare delle displasie/neoplasie mieloidi
• 5 - Meccanismi di controllo dell’eritropoiesi e policitemie congenite e familiari: ruolo delle vie di risposta alla pressione di ossigeno
• 6 - Implicazioni diagnostico-terapeutiche delle nuove conoscenze cliniche e molecolari del carcinoma midollare della tiroide.
• 7 - Un approccio integrato allo studio della eziopatogenesi delle mitocondriopatie
• 8 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 9 - Sviluppo e progressione del carcinoma epatocellulare: meccanismi molecolari ed implicazioni terapeutiche
• 10 - Meccanismi molecolari di carcinogenesi: validazione di nuovi bersagli per la diagnosi e la terapia

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • ONCOLOGIA MEDICA
  • MEDICINA INTERNA
  • ENDOCRINOLOGIA

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF (biocides, pest repellants or attractants, or plant growth regulators, containing micro-organisms, viruses, microbial fungi, enzymes, fermentates or substances produced by or extracted from micro-organisms or animal material A01N63/00; food compositions A21, A23; medicinal preparations A61K; chemical aspects of, or use of materials for, bandages, dressings, absorbent pads or surgical articles A61L; fertilisers C05); PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS (preservation of living parts of humans or animals A01N1/02); MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (micro-biological testing media C12Q)

Classificazione geografica

• Regione: Toscana

Bibliografia

1- Neumann HP, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466.
2- Latif F, Tory K, Gnarra J et al. Identification of the Von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320.
3- Walther MM, Reiter R, Keiser HR et al. Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma give insight into natural history of pheochromocytoma. J Urol 1999; 162: 659-664.
4- Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschprung’s disease. N Engl J Med 1996; 335: 943-951.
5- Neumann HPH, Berger DP, Sigmund G et al. Pheochromocytomas,multiple endocrine neoplasia type 2 and von Hippel-Lindau disease. N Engl J Med 1993; 329: 1531-1538.
6- Eng C, Smith DP, Mulligan LM et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum mol Genet 1994; 3: 237-241.
7- White R, O'Connell P. Identification and characterization of the gene for neurofibromatosis type 1. Curr Opin Genet Dev 1991; 1: 15-19.
8- Astuti D, Latif F, Dallol A et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Genet 2001; 69:49-54.
9- Niemann S, Mueller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26: 268-270.
10- Baysal BE, Ferrell RE, Willett-Brozick JE et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287: 848-851.
11- Astuti D, Douglas F, Lennard TWJ et al. Germline SDHD mutations in familial pheochromocytoma. Lancet 2001; 357: 1181-1182.
12- Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. Cytogenet Cell Genet 1997; 79:132-138
13- Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K. Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. Biochim Biophys Acta 1999; 1412: 295-300.
14- Bourgeron T, Rustin P, Chretien D et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nat Genet 1995 ; 11 : 144-149.
15- Lancaster CRD, editor. Special issue in bioenergetics. Biochem Biophys Acta 2002, 1553: 1-176.
16- Gerald D et al. JunD reduces tumor angiogenesis by protecting cells from oxidative stress. Cell 2004, 118: 781-794
17- Moeller BJ, CaoY, Li CY et al. Radiation activates HIF-1 to regulate vascular radiosensitivity in tumors: role of reoxygenation, free radicals and stress granules. Cancer Cell 2004, 5. 429-441.
18- Selak MA, Armour SM, MacKenzie ED, et al. Succinate links TCA cycle disfunction to oncogenesis by inhibiting HIF-a prolyl hydroxylase. Cancer Cell 2005, 7: 77-85.
19- Lee S, et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell. 2005, 8:155-67.
20- Maxwell PH. A common pathway for genetic events leading to pheochromocytoma.
Cancer Cell. 2005, 8:91-3.
21- Maxwell PH, Wiesener MS, Chang G-W et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999, 399: 271-275.
22- Simi L, Sestini R, Ferruzzi P et al. Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. J Med Genet 2005, 42:e52.
23- Opocher G, Schiavi F, Vettori A et al. Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma. Clin Endocrinol 2003, 59: 707-715.
24- Cascon A, Riuz-Llorente S, Rodrigues-Perales S et al. A novel candidate region linked to development of both pheochromocytoma and head/neck paragangliomas. Genes Chromosomes Cancer2005, 42:260-268.
25- Van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ et al. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 1989, 2: 1291-1294.
26- Baysal BE, Farr JE, Rubinstein WS et al. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet 1997, 60:121-132.
27- Baysal BE, Ferrell RE, Willett-Brozick JE et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287: 848-851.
28- Dannenberg H, Krijger RR, Zhao J et al. Differential loss of chromosome 11q in familial and spoardic parasympathetic paragangliomas detected by comparative genomic hybridization. Am J Pathol 2001; 158: 1937-1942.
29- Hensen EF, Jordanova ES, van Minderhout I et al. Somatic loss of maternal chromosome 11 causes parent-of-origin dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 2004, 1-8.
30- Stewart CE , Rotwein P. Growth, differentiation, and survival: multiple physiological functions for insulin-like growth factors. Physiol Rev 1996, 76: 1005-1026.
31- Yi-Ming Li , Gary Franklin, Heng-Mi Cui, Kristian Svensson, Xiao-Bing He, Gail Adam, Rolf Ohlsson, and Susan Pfeifer. The H19 transcript is associated with polysomes and may regulate IGF2 expression in trans. 1998, 273: 28247-28252.
32- Runge S, Nielsen FC, Nielsen J, Lykke-Andersen J, Wewer UM, Christiansen J. H19 RNA binds four molecules of insulin-like growth factor II mRNA-binding protein. J Biol Chem 2000, 275:29562-29569.
33- Favier J, Triere JJ, Strompf L et al. Hereditary Paraganglioma/Pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res 2005, 63: 171-179.
34- Pawlu C, Bausch B, Neumann HP. Mutations of the SDHB and SDHD genes. Fam Cancer, 2005, 4:49-54.

Parole Chiave

PARAGANGLIOMI, FEOCROMOCITOMA, SUCCINODEIDROGENASI, EFFETTO FONDATORE, PERDITE ALLELICHE, SILENZIAMENTO GENICO, SOMATOSTATIN RECEPTORS