RICERCA ITALIANA     

FIRB simili:

• 1 - PRIME: PRogetto Integrato Malattie Ereditarie
• 2 - IDENTIFICAZIONE DI DETERMINANTI GENETICI DI SUSCETTIBILITA' IN MALATTIE MULTIFATTORIALI NELLA POPOLAZIONE ITALIANA
• 3 - GENOMICA FUNZIONALE DELLE MALATTIE MUSCOLARI E CARDIACHE. RICERCA DI NUOVI MARCATORI MOLECOLARI E DI NUOVI BERSAGLI PER LA TERAPIA
• 4 - Canalopatie genetiche: identificazione di marcatori molecolari e loro funzione, sviluppo di sistemi diagnostici avanzati e identificazione di bersagli farmacologici.
• 5 - MECCANISMI DI DEGENERAZIONE NEURONALE
• 6 - Costituzione di una banca di DNA e cDNA per l'identificazione di nuovi marcatori diagnostici e prognostici della IgA nefropatia.
• 7 - Basi ereditarie della suscettibilità allo sviluppo dei tumori
• 8 - Identificazione e validazione di meccanismi genetico-molecolari coinvolti nel trasporto tubulare renale del sodio nell'ipertensione e nelle sue complicanze d'organo.
• 9 - Identificazione di profili genomici nucleo-mitocondriali nella patogenesi di malattie comuni età-associate. Implicazioni diagnostiche e terapeutiche.
• 10 - Sviluppo di molecole innovative in grado di curare malattie neurodegenerative e neuroinfiammatorie.

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA

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: Lazio

Bibliografia

Bibliografia consultata:

1. Larson JE, Cohen JC.
Cystic fibrosis revisited
Mol Genet Metab 2000 Nov;71(3):470-7

2. Gottlieb B, Beitel LK, Trifiro MA.
Somatic mosaicism and variable expressivity.
Trends Genet. 2001 Feb;17(2):79-82.

3. Petronis A.
Human morbid genetics revisited: relevance of epigenetics.
Trends Genet. 2001 Mar;17(3):142-6.

4. Dipple KM, McCabe ER.
Modifier genes convert "simple" Mendelian disorders to complex traits.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):43-50. Review.

5. Wolf U.
The genetic contribution to the phenotype.
Hum Genet. 1995 Feb;95(2):127-48. Review.

6. Philips AV, Cooper TA.
RNA processing and human disease.
Cell Mol Life Sci. 2000 Feb;57(2):235-49. Review.

7. Tapscott SJ, Thornton CA.
Reconstructing myotonic dystrophy.
Science. 2001 Aug 3;293(5531):816-7.

8. Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P.
Prediction of deleterious human alleles.
Hum Mol Genet. 2001 Mar 15;10(6):591-7.

9. Roux-Rouquie M.
Genetic and epigenetic regulation schemes: need for an alternative paradigm.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):1-9. Review.

10.Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD.
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review.

11.Comings DE, MacMurray JP.
Molecular heterosis: a review.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):19-31. Review.

12 Ohlsson R, Renkawitz R, Lobanenkov V.
CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease.
Trends Genet. 2001 Sep;17(9):520-7.

13 Slavotinek AM, Biesecker LG.
Unfolding the role of chaperones and chaperonins in human disease.
Trends Genet. 2001 Sep;17(9):528-35.

14 Burghes AH, Vaessin HE, de La Chapelle A.
Genetics. The land between Mendelian and multifactorial inheritance.
Science. 2001 Sep 21;293(5538):2213-4.

15 Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science. 2001 Sep 21;293(5538):2256-9

16 Judson R, Stephens JC, Windemuth A.
The predictive power of haplotypes in clinical response.
Pharmacogenomics. 2000 Feb;1(1):15-26. Review

17 Eisenberg D, Marcotte EM, Xenarios I, Yeateas TO.
Protein function in the post-genomic era.
Nature (Insight Progress) 2000; 405:823-826

18 Legrain P, Wojcik J, Gauthier JM.
Protein-protein interaction maps: a lead towards cellular functions.
Trends in Genetics 2001; 17:346-352

19 Mathews C.
Postgenomic technologies: hunting the genes for common disorders.
British Medical Journal 2001; 322: 1031-1033.

20 Serra R, Villani M, Salvemini A.
Continuous genetic network.
Parallel Computing, in press

21 Young DB.
A post-genomic perspective.
Nature Medicine 2001; 7: 111-113

22 Dredge BK, Polydorides AD, Darnel RB.
The splice of life: alternative splicing of neurological diseases.
Nature Rev Neurosci 2001; 2: 43-50

Parole Chiave

Malattie Mendeliane; Eterogeneità genetica; Eterogeneità allelica; Espressività variabile; Genotipo-ribotipo-fenotipo; Proteomica