RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Eritropoiesi normale e patologica: caratterizzazione molecolare mediante tecnologie avanzate a resa elevata.
• 2 - Basi metaboliche e molecolari della sindrome di Down
• 3 - Studio di biologia integrata ad alta produttività per l'analisi genetica della IgA nefropatia
• 4 - Meccanismi della citochinesi: identificazione di nuovi geni coinvolti nel processo e nella sua regolazione
• 5 - Patogenesi molecolare delle malattie del motoneurone come tool per l’identificazione di nuovi approcci terapeutici biomolecolari e cellulari
• 6 - IDENTIFICAZIONE DI GENI COINVOLTI NELLA DETERMINAZIONE DI PATOLOGIE RENALI MALFORMATIVE: DALL'IPOTESI PATOGENETICA ALL'ANALISI MUTAZIONALE
• 7 - Cardiomiopatia aritmogena del ventricolo destro: identificazione di mutazioni patogene, correlazione con dati clinici ed istopatologici e dimostrazione del loro effetto patogeno in modelli sperimentali
• 8 - IDENTIFICAZIONE DI NUOVI GENI MALATTIA MEDIANTE ANALISI DEL TRASCRITTOMA (TOM: TRANSCRIPTOME OF MIM)
• 9 - Ruolo dell'oncogene N-MYC e del monossido di azoto nel controllo della proliferazione tumorale e nell'espressione di geni per la resistenza ai farmaci in cellule di neuroblastoma umano.
• 10 - Aspetti biochimici e genetici del disturbo autistico.

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze biologiche
  • BIOLOGIA MOLECOLARE
• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • PEDIATRIA GENERALE E SPECIALISTICA
  • NEUROPSICHIATRIA INFANTILE

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: Lombardia

Bibliografia

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Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G (1998): In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet 7:109-113

Chiurazzi P, Pomponi MG, Pietrobono R, Bakker CE, Neri G, Oostra BA (1999): Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet 8:2317-2323.

Chiurazzi P, Hamel BC, Neri G (2001): XLMR genes: update 2000. Eur J Hum Genet 9:71-81.

Chiurazzi P, Neri G (2003): Reactivation of silenced genes and transcriptional therapy. Cytogenet Genome Res 100:56-64.

Chiurazzi P, Neri G, Oostra BA (2003): Understanding the biological underpinnings of fragile X syndrome. Curr Op Pediat 15:559-566.

Chiurazzi P, Tabolacci E, Neri G (2004): X-Linked Mental Retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 41:117-158.

Detich N, Bovenzi V, Szyf M (2003) Valproate induces replication-independent active DNA demethylation. J Biol Chem 278:27586-27592.

Gervasini C, Bentivegna A, Venturin M, Corrado L, Larizza L, Riva P (2002): Tandem duplication of the NF1 gene detected by high-resolution FISH in the duplicon-rich 17q11.2 region. Hum Genet 110:314-321.

Kawasaki H, Taira K (2004): Induction of DNA methylation and gene silencing by short interfering RNAs in human cells. Nature 431:211-217.

Longo I, Frints S, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G (2003): A third MRX family (MRX68) is due to mutation in the Long-Chain Fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 40:11-17.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G (1996): XLMR Genes: Update 1996. Am J Med Genet 64:147-157

Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G (1999): XLMR genes: update 1998. Am J Med Genet 83:237-247

Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A (2005): Germline mosaicism in Rett syndrome identified by prenatal diagnosis. Clin Genet 67:258-260.

Martinez-Arca S, Rudge R, Vacca M, Raposo G, Camonis J, Prouxgillardeaux V, Daviet L, Formstecher E, Hamburger A, Filippini F, D'Esposito M, Galli T (2003): A dual mechanism controlling the localization and function of exocytic v-SNAREs. Proc Natl Acad Sci USA 100:9011-9016.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A (2000): A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 67:982-985.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini I, Moizard Mp, Gomot M, Chelly J, Des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A (2002): FACL4, encoding fatty acids CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nature Genet 30:436-440.

Morris KV, Chan SW, Jacobsen SE, Looney DJ (2004): Small interfering RNA-induced transcriptional gene silencing in human cells. Science 305:1289-1292.

Neri G, Gurrieri F, Gal A, Lubs HA (1991) XLMR genes: update 1990. Am J Med Genet 38:186-189.

Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA (1992): XLMR Genes: Update 1992. Am J Med Genet 43:373-382

Neri G, Chiurazzi P, Arena JF, Lubs HA (1994): XLMR genes. Update 1994. Am J Med Genet 51:542-549

Neri G, Chiurazzi P (1999): X-linked mental retardation. Adv Genet 41:55-94

Pietrobono R, Pomponi MG, Tabolacci E, Oostra B, Chiurazzi P, Neri G (2002): Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res 30:3278-3285.

Pietrobono R, Tabolacci E, Zalfa F, Zito I, Terracciano A, Moscato U, Bagni C, Oostra B, Chiurazzi P, Neri G (2005): Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet 14:267-277.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F (2003): Rett syndrome: the complex nature of a monogenic disease. J Mol Med 81:346-354.

Ross et al. (2005) The DNA sequence of the human X chromosome. Nature 434:325-337.

Rossi V, Banfield DK, Vacca M, Dietrich LEP, Ungermann C, D'Esposito M, Galli T, Filippini F (2004): Longins and their longin domains: regulated SNAREs and multifunctional SNARE regulators. Trends Biochem Sci 29:682-688.
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Stoyanova V, Rossetti S, van Unen L, Oostra BA, Hoogeveen AT (2004): Loss of FMR1 hypermethylation in somatic cell heterokaryons. FASEB J. 18:1964-1966.

Tabolacci E, Pietrobono R, Moscato U, Oostra BA, Chiurazzi P, Neri G (2005): Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur J Hum Genet: Mar 2; [Epub ahead of print].

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Traynor J, Agarwal P, Lazzeroni L, Francke U. (2002) Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 3:12.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hulten M (2001): Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
J Mol Med 78:648-655.

Venturin M, Guarnirei P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L (2004): Mental retardation and cardiovascular malformations in NF1-microdeleted patients point to candidate genes in 17q11.2. J Med Genet 41:35-41.

Zappella M, Meloni I, Longo I, Hayek G, Renieri A (2001): Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 104:14-22.

Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H. (2001) A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet 17:697-701.

Parole Chiave

RITARDO MENTALE; CROMOSOMA X; PROFILI DI ESPRESSIONE GENICA; BIOINFORMATICA; MODIFICAZIONI EPIGENETICHE DELLA CROMATINA; TOPI KNOCK-OUT; ANALISI MUTAZIONALE; SCREENING BIOCHIMICO