RICERCA ITALIANA     

FIRB simili:

• 1 - Basi ereditarie della suscettibilità allo sviluppo dei tumori
• 2 - Canalopatie genetiche: identificazione di marcatori molecolari e loro funzione, sviluppo di sistemi diagnostici avanzati e identificazione di bersagli farmacologici.
• 3 - Identificazione e validazione di meccanismi genetico-molecolari coinvolti nel trasporto tubulare renale del sodio nell'ipertensione e nelle sue complicanze d'organo.
• 4 - PRIME: PRogetto Integrato Malattie Ereditarie
• 5 - IDENTIFICAZIONE DI DETERMINANTI GENETICI DI SUSCETTIBILITA' IN MALATTIE MULTIFATTORIALI NELLA POPOLAZIONE ITALIANA
• 6 - Identificazione ed analisi funzionale delle alterazioni molecolari e geniche che caratterizzano i tumori della mammella ormono-responsivi
• 7 - Il sistema di trasduzione del segnale Ca2+: dalle molecole alle funzioni
• 8 - MECCANISMI DI DEGENERAZIONE NEURONALE
• 9 - GENOTOPO:Genomica funzionale del topo
• 10 - Meccanismi molecolari della morte cellulare e loro implicazione in patologia umana

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • MALATTIE DELL'APPARATO CARDIOVASCOLARE
  • NEUROLOGIA
• Area scientifico disciplinare: Ingegneria industriale e dell'informazione
  • SISTEMI DI ELABORAZIONE DELLE INFORMAZIONI

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: Veneto

Bibliografia

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Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C and Lehmann-Horn F: Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum. Mol. Genet. 8: 2055-2062, 1999.
Chen YW, Zhao P, Borup R, Hoffman EP. Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol. 2000, 151:1321-36.
Cheng W, Reiss K, Li P, Chun M, Kajstura J, Olivetti G, Anversa P: Aging does not affect the activation of the myocyte insulin-like growth factor-1 autocrine system after infarction and ventricular failure in Fischer 344 rats. Circ Res 78:536-546, 1996.
Chin, E.R., E.N. Olson, J.A. Richardson, Q. Yang, C. Humphries, J.M. Shelton, H. Wu, W. Zhu, R. Bassel-Duby, and R.S. Williams. 1998. A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type. Genes Dev 12: 2499-509.
Cohn J.N., Bristow M.R., Chien K.R., Colucci W.S., Frazier O.H., Leinwand L.A., Lorell B.H., Moss A.J., Sonnenblick E.H. and Walsh R.A. et al. (1997) Report of the National Heart, Lung and Blood Institute special emphasis panel on heart failure research. Circulation, 95:766-770.
Conlon, I. and M. Raff. 1999. Size control in animal development. Cell 96: 235-44.
Dunn, S.E., J.L. Burns, and R.N. Michel. 1999. Calcineurin is required for skeletal muscle hypertrophy. J Biol Chem 274: 21908-12.
Freeman K, Lerman I, Kranias EG, Bohlmeyer T, Bristow MR, Lefkowitz RJ, Iaccarino G, Koch WJ, Leinwand LA. Alterations in cardiac adrenergic signaling and calcium cycling differentially affect the progression of cardiomyopathy. J Clin Invest. 2001,107:967-74.
Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987, 51:919-28.
Jouven X, Desnos M, Guerot C, Ducimetiere P: Predicting sudden death in the population: the Paris Prospective Study I. Circulation 1999, 99:1978-83
Kajstura J, Cheng W, Sarangarajan R, Li P, Li B, Nitahara JA, Chapnick S, Reiss K, Olivetti G, Anversa P: Necrotic and apoptotic myocyte cell death in the aging heart of Fischer 344 rats. Am J Physiol 271:H1215-H1228, 1996.
Kajstura J, Leri A, Finato N, Di Loreto C, Beltrami CA, Anversa P: Myocyte proliferation in end-stage cardiac failure in humans. Proc Natl Acad Sci USA 95:8801-8805, 1998.
Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell. 2001, 104:569-80.
Leri A, Barlucchi L, Limana F, Deptala A, Darzynkiewicz Z, Hintze TH, Kajstura J, Nadal-Ginard B, Anversa P: Telomerase expression and activity are coupled with myocyte proliferation and preservation of telomeric length in the failing heart. Proc Natl Acad Sci USA, 98:8626-8631, 2001.
Leri A, Franco S, Barlucchi L, Chimenti S, Limana F, Zacheo A, Blasco M. Ablation of telomerase leads to an early onset of heart failure in mice. Circulation 2001, In press.
Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, Vaughan P, Zafra G, MacLennan DH, McCarthy TV. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci USA, 96, 4164-9, 1999.
McCarthy, T.V., Quane K.A. and Lynch P.J.,. (2000) Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum. Mutat, 15, 410-417

MacLennan DH. Ca2+ signalling and muscle disease. Eur J Biochem. 2000;267:5291–5297.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986, 323:646-50.
Monnier N, Procaccio V, Stieglitz P, Lunardi J: Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet, 60, 1316-1325, 1997.

Monnier N; Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M and Lunardi J: An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet, 9, 2599-2608, 2000.
Moss AJ, Schwartz PJ: Delayed repolarization (QT or QTU prolongation) and malignant ventricular arrhythmias. Mod Conc Cardiovasc Med 1982, 51:85-90.
Murgia, M., A.L. Serrano, E. Calabria, G. Pallafacchina, T. Lømo, and S. Schiaffino. 2000. Ras is involved in nerve-activity-dependent regulation of muscle genes. Nat Cell Biol 2: 142-7.
Naya, F.J., B. Mercer, J. Shelton, J.A. Richardson, R.S. Williams, and E.N. Olson. 2000. Stimulation of slow skeletal muscle fiber gene expression by calcineurin in vivo. J Biol Chem 275: 4545-8.
Napolitano C, Schwartz PJ, Brown AM, Ronchetti E, Bianchi L, Pinnavaia A, Acquaro G, Priori SG: Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol 2000, 11:691-696.
Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology. 2000, 55:1689-96.
Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AAM, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R. Genotype-phenotype correlation in the long QT syndrome. Gene-specific triggers for life-threatening arrhythmias. Circulation 103:89-95, 2001
Seidman JG and Seidman C. The Genetic Basis for Cardiomyopathy: from Mutation Identification to Mechanistic Paradigms. Cell, Vol 104, 557-567.
Serrano, A.L., M. Murgia, G. Pallafacchina, E. Calabria, P. Coniglio, T. Lømo, and S. S. 2001. Calcineurin controls nerve activity-dependent specification of slow skeletal muscle fibers but not muscle growth. Proc. Nat. Acad. Sci. USA in press.
Sorrentino V. and R. Rizzuto Molecular genetics of Ca2+ stores and intracellular Ca2+ signalling Trends in Pharmacol. Sciences. 2001, 22: 459-464.
Stocker, H. and E. Hafen. 2000. Genetic control of cell size. Curr Opin Genet Dev 10: 529-35.
Wei JY. Age and the cardiovascular system. N Engl J Med 237:1735-1739, 1992.

Parole Chiave

muscolo scheletrico; muscolo cardiaco; microarray; trasferimento genico; geni modificatori; animali modello