RICERCA ITALIANA     

Similar research programs:

• 1 - Variability and function of mitochondrial mutations in physiological and pathological conditions
• 2 - Oncogenesis of Chromaffin Tumors: genetic-molecular characteristics and phenotypic correlations.
• 3 - Studies on the molecular mechanisms of abnormal parathyroid proliferation and function, and identification and clinical use of molecular markers of sporadic and familial parathyroid cancer. New insights on the prevalence of skeletal, neuropsychological and metabolic manifestations of primary hyperparathyroidism, their relationship with calcium sensing receptor polymorphisms and course after parathyroidectomy.
• 4 - New insights into the mutational load and into the possibilities of cytogenetic and molecular monitoring of myeloid dysplasia/neoplasia
• 5 - Control mechanisms of erythropoiesis and congenital and familial polycythemias: role of oxygen-sensing pathways
• 6 - Diagnostic and therapeutic implications of the new clinic and molecular knowledges of medullary thyroid carcinoma del .
• 7 - An integrated approach to the study of the etiopathogenesis of mitochondrial disorders
• 8 - Hypoxia-induced angiogenetic genes: susceptibility factors to Amyotrophic Lateral Sclerosis ?
• 9 - Development and progression of hepatocellular carcinoma: molecular mechanisms and therapeutic implications.
• 10 - DISSECTION OF THE MOLECULAR MECHANISMS OF CARCINOGENESIS: IDENTIFICATION OF NOVEL TARGETS FOR DIAGNOSIS AND THERAPY

Scientific and education field classification

• Field: Scienze mediche
  • GENETICA MEDICA
  • ONCOLOGIA MEDICA
  • MEDICINA INTERNA
  • ENDOCRINOLOGIA

International Patent Classification

• 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)

Geographical classification

• Region: 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.
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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.

Keywords

PARAGANGLIOMAS, PHEOCHROMOCYTOMAS, SUCCINATE DEHYDROGENASE, FOUNDER EFFECT, ALLELIC LOSS, GENE SILENCING, RECETTORI ALLA SOMATOSTATINA