RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Variabilità e funzione delle mutazioni mitocondriali in condizioni fisiologiche e patologiche
• 2 - DISSEZIONE DEI FATTORI GENETICI E COMPRENSIONE DEI MECCANISMI RESPONSABILI DEL DIABETE AUTOIMMUNE
• 3 - Analisi della struttura genetica e del linkage disequilibrium in popolazioni domesticate e selvatiche di Phaseolus vulgaris L.
• 4 - Paraparesi spastiche ereditarie: studio genetico, funzionale, clinico
• 5 - Un approccio integrato allo studio della eziopatogenesi delle mitocondriopatie
• 6 - Il popolamento del continente europeo: la prospettiva del DNA mitocondriale e del cromosoma Y
• 7 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 8 - Nuove acquisizioni sul carico mutazionale e sulle possibilità di monitoraggio citogenetico e molecolare delle displasie/neoplasie mieloidi
• 9 - Meccanismi di controllo dell’eritropoiesi e policitemie congenite e familiari: ruolo delle vie di risposta alla pressione di ossigeno
• 10 - Influenza della variabilità del DNA mitocondriale sulla funzionalità mitocondrio-cellulare e sue conseguenze sull'invecchiamento nell'uomo.

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze biologiche
  • GENETICA

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
• PHYSICS
  • MEASURING (counting G06M); TESTING
    • INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (separating components of materials in general B01D, B01J, B03, B07; apparatus fully provided for in a single other subclass, see the relevant subclass e.g. B01L; measuring or testing processes other than immunoassay, involving enzymes or micro-organisms C12M, C12Q; investigation of foundation soil in situ E02D1/00; sensing humidity changes for compensating measurements of other variables or for compensating readings of instruments for variations in humidity, see G01D or the relevant subclass for the variable measured; testing or determining the properties of structures G01M; measuring or investigating electric or magnetic properties of materials G01R; systems or methods in general, using reception or emission of radiowaves or other waves and based on propagation effects, e.g. Doppler effect, propagation time, direction of propagation, G01S; determining sensivity, graininess, or density of photographic materials G03C5/02; testing component parts of nuclear reactors G21C17/00; [N: controlling or regulating non-electric variables G05D; measuring degree of ionisation of ionised gases, i.e. plasma H05H1/00A; testing electrographic developer properties G03G15/08H6])

Classificazione geografica

• Regione: Lombardia

Bibliografia

• Achilli A, et al. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918

• Autere J, et al. (2004) Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet 115:29-35

• Brown MD et al. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60:381-387

• Casanova M, et al. (1985) A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 230:1403-1406

• Charchar FJ, et al. (2004) Association of the human Y chromosome with cholesterol levels in the general population. Artherioscler Thromb Vasc Biol 24:308-312

• Chen XH, et al. (2004) Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implication for association analyses. Hum Hered 57:142-155

• De Benedictis G, et al. (1999) Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J 13:1532-1536

• Deiana L, et al. (1999) AKEntAnnos. The Sardinia study of extreme longevity. Aging 11:142-149

• Di Giacomo F, et al (2003) Clinal patterns of human Y chromosomal diversity in Continental Italy and Greece are dominated by drift and founder effects. Mol Phyl Evol 28:387-395

• Di Giacomo F, et al (2004) Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe. Hum Genet 115:357-371

• Garcia EC, et al (2003) Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients. Am J Med Genet 122:234-237

• Ghezzi D, et al. (2005) Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (in press)

• Hammer MF, et al. (2003) Human population structure and its effect on sampling Y chromosome sequence variation. Genetics 164:1495-1509

• Hofmann S, et al. (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6:1835-1846

• Holt IJ, et al. (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719

• Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612

• Lee JH, et al. (2004) Molecular evidence for absence of Y-linkage of the hairy ears trait. Eur J Hum Genet 12:1077-1079

• Majamaa K, et al. (1998) Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. Lancet 352:455-456

• Moran CN, et al. (2004) Y chromosome haplogroups of elite Ethiopian endurance runners. Hum Genet 115:492-497

• Munakata K, et al. (2004) Mitochondrial DNA 3644TC mutation associated with bipolar disorder. Genomics 84:1041-1050

• Niemi AK, et al. (2003) Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet 2:29-33

• Nordborg M (2001) Coalescent theory. In Handbook of statistical genetics (Balding, Bishop, Canning eds.), Wiley

• Paracchini S, et al. (2002) Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. Nucleic Acids Res 30:e27

• Paracchini S, et al. (2003) A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study. J Med Genet 40:815-819

• Reynier P, et al. (1999) mtDNA haplogroup J: a contributing factor of optic neuritis. Eur J Hum Genet 7:404-406

• Richard SM, et al. (2004) Ethnic variation in the prevalence of AZF deletions in testicular cancer. Mutat Res 554:45-51

• Richards M, et al. (1998) Phylogeography of mitochondrial DNA in Western Europe. Ann Hum Genet 62:241-260

• Richards M, et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276

• Rodriguez S, et al. (2005) Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2743 middle-aged Caucasian males from the UK. Hum Genet 116:311-318

• Ross OA, et al. (2001) Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol 36:1161-1178

• Ross OA, et al. (2003) mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol 38:397-405

• Ruiz-Pesini E, et al. (2000) Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67:682-696

• Shoffner JM, et al. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17:171-184

• Skaletsky H, et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837

• Torroni A, et al. (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53:563-590

• Torroni A, et al. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107-1121

• Underhill P, et al. (2000) Y chromosome sequence variation an the history of human populations. Nature Genet 26:358-361

• van der Walt JM, et al. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72:804-811

• Wallace DC, et al. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430

• Wang Q, et al. (2004) Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome. Am J Med Genet 131A:50-58

• Weedon MN, et al. (2003) Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population. Clin Endocrinol 59:175-179

• Wilder JA, et al. (2004) Global patterns of human mitochondrial DNA and Y-chromosome structure are not influenced by higher migration rates of females versus males. Nat Genet 36:1122-1125.

• Zerjal T, et al. (2003) The genetic legacy of the Mongols. Am J Hum Genet 72:717–721

Parole Chiave

GENETICA; CROMOSOMA Y UMANO; DNA MITOCONDRIALE UMANO; POLIMORFISMI DEL CROMOSOMA Y; POLIMORFISMI DEL DNA MITOCONDRIALE; STUDI DI ASSOCIAZIONE CON PATOLOGIE; VARIABILITÀ GENETICA UMANA; APLOGRUPPI; ANALISI FILOGENETICA