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Träfflista för sökning "WFRF:(Heikkila P) ;srt2:(2000-2004);pers:(Heikkila P)"

Sökning: WFRF:(Heikkila P) > (2000-2004) > Heikkila P

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  • Heikkila, P, et al. (författare)
  • Animal models of Alport syndrome: advancing the prospects for effective human gene therapy
  • 2000
  • Ingår i: Experimental nephrology. - : S. Karger AG. - 1018-7782 .- 1660-2129. ; 8:1, s. 1-7
  • Tidskriftsartikel (refereegranskat)abstract
    • Several animal models for Alport syndrome have been described. These are available for studies on the pathogenetic mechanisms of the disease, as well as for the development of new technologies for gene therapy in this progressive hereditary kidney disease. This review summarizes current knowledge on the molecular basis of Alport syndrome, and on the animal models which all remarkably well resemble the human disease. Recent work aimed at the development of gene therapy, including hurdles and progress are discussed.
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  • Johannsdottir, HK, et al. (författare)
  • Deletions on chromosome 4 in sporadic and BRCA mutated tumors and association with pathological variables
  • 2004
  • Ingår i: Anticancer research. - 1791-7530. ; 24:5A, s. 2681-2687
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Chromosomal aberrations in breast tumors from BRCA1 and BRCA2 germ-line mutation carriers are considerably more frequent than what is seen in sporadic breast tumors. According to Comparative Genomic Hybridisation analysis (CGH), deletions on chromosome 4 are one of the most frequent events in BRCA1-associated tumors, suggesting inactivation of specific tumor suppressor genes. Materials and Methods: In the present study, 16 microsatellite markers covering chromosome 4 were used to map loss of heterozygosity (LOH) in tumors from BRCA1 (n =41) as well as in tumors from BRCA2 (n = 66) mutation carriers and in tumors from unselected cases of breast cancer (n = 68). Results: The frequency of LOH in these groups ranged from 16-73% in BRCA1-associated tumors, 13-42% in BRCA2-associated tumors and 8-33% in unselected tumors. LOH was significantly more frequent in BRCA1-associated tumors as compared to BRCA2-associated tumors and unselected tumors, and particularly high (over 70%) at 4q35.2. Pathological variables that were found significantly associated (pless than or equal to0.05) with LOH at specific markers were: high percentage of cells in S-phase, negative estrogen receptor status, young age at diagnosis and large tumors. Deletion mapping indicates the existence of seven non-overlapping regions at chromosome 4, which were identified in all three groups of tumors. Three of these seven regions, 4p16.3-p16.1, 4q27-q32.1 and 4q35.1-4qter, have not been reported in breast cancer previously. Conclusion: The results manifest the frequent alterations of chromosome 4 in BRCA1-associated breast tumors and indicate the location of several genes of potential importance in breast cancer development.
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