RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - DISSEZIONE DEI FATTORI GENETICI E COMPRENSIONE DEI MECCANISMI RESPONSABILI DEL DIABETE AUTOIMMUNE
• 2 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 3 - Studio di biologia integrata ad alta produttività per l'analisi genetica della IgA nefropatia
• 4 - IDENTIFICAZIONE DI NUOVI GENI MALATTIA MEDIANTE ANALISI DEL TRASCRITTOMA (TOM: TRANSCRIPTOME OF MIM)
• 5 - Contributo di un cluster di RNA non codificanti RNA Polimerasi III-dipendenti nella malattia di Alzheimer. Nuovi bersagli per un possibile trattamento terapeutico che prevenga la deposizione di placche amiloidi.
• 6 - Approccio di proteomica per l'individuazione di nuovi marcatori molecolari nelle malattie neurodegenerative
• 7 - STUDI SUI FATTORI GENETICI ED IMMUNOLOGICI CHE REGOLANO IL DANNO TESSUTALE ED IL DECORSO CLINICO DELL'ARTRITE REUMATOIDE
• 8 - PRODUZIONE E CATABOLISMO DELLA BETA-AMILOIDE IN PAZIENTI CON MALATTIA DI ALZHEIMER E MILD COGNITIVE IMPAIRMENT: STUDI IN VITRO E MARKERS EX VIVO
• 9 - 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.
• 10 - Nefrolitiasi calcica e ostepatie associate: studio delle interazioni tra cause genetiche e nutrizionali e dei meccanismi patogenetici.

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA 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

Classificazione geografica

• Regione: Sardegna

Bibliografia

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2. Erlich, H.A., et al., HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families. Nat Genet, 1993. 3(4): p. 358-64.
3. Cucca, F., et al., Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum. Immunol., 1993. 37(2): p. 85-94.
4. Cucca, F., et al., The distribution of DR4 haplotypes in Sardinia suggests a primary association of insulin dependent diabetes mellitus with DRB1 and DQB1 loci. Hum. Immunol., 1995. 43(4): p. 301-308.
5. Noble, A.J., et al., The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families. Am. J. Hum. Genet., 1996. 59: p. 1134-1148.
6. Herr, M., et al., Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21. Hum Mol Genet, 2000. 9(9): p. 1291-301.
7. Zavattari, P., et al., Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Hum. Mol. Genet., 2000. 9(20): p. 2967-72.
8. Erlich, H.A., et al., Association of HLA-DPB1*0301 with IDDM in Mexican-Americans. Diabetes, 1996. 45(5): p. 610-4.
9. Cucca, F., et al., The HLA-DPB1-associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1. Diabetes, 2001. 50(5): p. 1200-5.
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11. Ueda, H., et al., Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature, 2003. 423(6939): p. 506-11.
12. Bottini, N., et al., A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet, 2004. 36(4): p. 337-8.
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15. Zavattari, P., et al., Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Hum. Mol. Genet., 2001. 10(8): p. 881-9.
16. Nejentsev, S., et al., Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B. Diabetes, 2000. 49(12): p. 2217-21.
17. Lie, B.A., et al., The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Am J Hum Genet, 1999. 64(3): p. 793-800.
18. Karvonen, M., et al., Incidence of childhood type 1 diabetes worldwide. Diabetes Mondiale (DiaMond) Project Group. Diabetes Care, 2000. 23(10): p. 1516-26.
19. Muntoni, S., et al., Incidence of insulin-dependent diabetes mellitus among Sardinian-heritage children born in Lazio region, Italy. The Lancet, 1997. 349: p. 160-162.
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Parole Chiave

DIABETE DI TIPO 1; SARDEGNA; EFFETTI FONDATORI; ASSOCIAZIONE; PREVENZIONE; AUTOIMMUNITA'; TIROSIN FOSFATASI LINFOIDE; DIABETE AUTOIMMUNE LATENTE DELL'ADULTO; HLA