RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Sviluppo e progressione del carcinoma epatocellulare: meccanismi molecolari ed implicazioni terapeutiche
• 2 - Alterazioni dell'imprinting genomico in patologie umane
• 3 - BASI MOLECOLARI E ALTERAZIONI CITOGENETICHE NEI TUMORI DELLA VESCICA DEL BOVINO
• 4 - Basi strutturali dei meccanismi di azione di fattori oncogenici e oncosoppressori nei tumori del sistema nervoso:progettazione di nuove entità molecolari di interesse terapeutico.
• 5 - Definizione del ruolo di geni "Fanconi pathway" e "CDKN2A pathway" in sindromi neoplastiche ereditarie e tumori sporadici
• 6 - Meccanismi biomolecolari implicati nella patogenesi di tumori testicolari
• 7 - Avanzamenti nella diagnosi molecolare e nel trattamento dei tumori neuroendocrini
• 8 - Marcatori molecolari nel carcinoma del cavo orale e loro impiego nella diagnosi precoce, nella prognosi e nella risposta ai farmaci antiblastici.
• 9 - Modulazione farmacologica in vitro e in vivo di oncogeni implicati nella tumorigenesi tiroidea.
• 10 - IL RECETTORE A3 DELL'ADENOSINA COME BERSAGLIO FARMACOLOGICO E "BIOMARKER" PER LA TUMORIGENESI NELL'UOMO

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • ONCOLOGIA MEDICA
  • 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)
• HUMAN NECESSITIES
  • AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS

Classificazione geografica

• Regione: Toscana

Bibliografia

1- Latif F, Tory K, Gnarra J et al. Identification of the Von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320.
2- 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.
3- Eng C. the RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschprung’s disease. N Engl J Med 1996; 335: 943-951.
4- 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.
5- 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.
6- White R, O'Connell P. Identification and characterization of the gene for neurofibromatosis type 1. Curr Opin Genet Dev 1991; 1: 15-19.
7- 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.
8- Niemann S, Mueller U. Mutations in SDHD cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26: 268-270.
9- 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.
10- Astuti D, douglas F, Lennard TWJ et al. Germline SDHD mutations in familial pheochromocytoma. Lancet 2001; 357: 1181-1182.
11- Kaelin WG, Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2(9):673-82.
12- Crossey PA, et al. Molecular genetic investigations of the mechanism of tumourigenesis invon Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum Genet 1994;93(1):53-8.
13- Knudson AG, Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68(4):820-3.
14- Bender BU, et al. Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. J Clin Endocrinol Metab 2000;85(12):4568-74.
15- Lui WO, et al. Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome. Oncogene 2002;21(7):1117-22.
16- Kwok JB, Gardner E, Warner JP, Ponder BA, Mulligan LM. Structural analysis of the human ret proto-oncogene using exon trapping. Oncogene 1993;8(9):2575-82.
17- Myers SM, Eng C, Ponder BA, Mulligan LM. Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET. Oncogene 1995;11(10):2039-45.
18- Le Hir H, et al Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas. Oncology 2000;58(4):311-8.
19- Le Hir H, Charlet-Berguerand N, de Franciscis V, Thermes C. 5'-End RET splicing: absence of variants in normal tissues and intron retention in pheochromocytomas. Oncology 2002;63(1):84-91.
20- Huang SC, et al.. Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res 2000;60(22):6223-6.
21- Takahashi M, Cooper GM. ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol 1987;7(4):1378-85
22- .Treanor JJ, et al.. Characterization of a multicomponent receptor for GDNF [see comments]. Nature 1996;382(6586):80-3.
23- Trupp M, et al. Functional receptor for GDNF encoded by the c-ret proto-oncogene [see comments]. Nature 1996;381(6585):785-8.
24- Durbec P, et al. GDNF signalling through the Ret receptor tyrosine kinase [see comments]. Nature 1996;381(6585):789-93.
25- Kotzbauer PT, et al. a relative of glial-cell-line-derived neurotrophic factor. Nature 1996;384(6608):467-70.
26- Milbrandt J, et al. Persephin, a novel neurotrophic factor related to GDNF and neurturin. Neuron 1998;20(2):245-53.
27- Baloh RH, et al.Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex. Neuron 1998;21(6):1291-302.
28- 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.
29- 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.
30- Bourgeron T, Rustin P, Chretien D et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency 1995 ; Nat Genet 11 : 144-149.
31- Gimm O, Armanios M, Dziema H, Neumann HP, Eng C. Somatic and occult germ line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000; 60: 6822-6825.
32- Neumann HP, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466.
33- Chandel NS, Schumaker PT. Cellular oxygen sensing by mitochondria: old question, new insight. J Appl Physiol 2000; 88: 1880-1889.
34- Gimenez-Requeplo AP, Favier J, Rustin P et al. Functional consequences of a SDHB gene mutation in apparently sporadic pheochromocytoma. J Clin Endocrinol Metab. 2002; 87: 4771-4774.
35- Gimenez-Requeplo AP, Favier J, Rustin P et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishesthe enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 2001; 69: 1186-1197.
36- Cavalli LR, Liang BC. Mutagenesis, tumorigenicity and apoptosis: are mitochondria involved? Mutat Res 1998; 398: 19-26.
37- Green DR, Reed JC. Mitochondria and apoptosis. Science 1998; 281: 1309-1312.
38- Chen EY, Mazure NM, Cooper JA, Giaccia AJ. 2001 Hypoxia activates a platelet-derived growth factor receptor/phosphatidylinositol 3-kinase/Akt pathway that results in glycogen synthase kinase-3 inactivation. Cancer Res. Mar 15;61(6):2429-33.
39- You MJ, et al. Genetic analysis of Pten and Ink4a/Arf interactions in the suppression of tumorigenesis in mice. Proc Natl Acad Sci U S A. 2002 Feb 5;99(3):1455-60.
40- Ryan HE, Poloni M, McNulty W, Elson D, Gassmann M, Arbeit JM, Johnson RS. 2000 Hypoxia-inducible factor-1alpha is a positive factor in solid tumor growth. Cancer Res. 1;60(15):4010-5.

Parole Chiave

TUMORI DI DERIVAZIONE DALLA CRESTA NEURALE; FEOCROMOCITOMA; PARAGANGLIOMA; TUMORE GLOMICO; VON HIPPEL LINADU; SUCCINATO DEIDROGENASI; MUTAZIONI GENICHE; IPOSSIA; APOPTOSI