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Contact data |
Assistant Professor
of Medical Genetics |
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Biography |
2005, Varese: Assistant
Professor of Medical Genetics, Department of Experimental and Clinical
Biomedical Sciences, University of Insubria. 1987,Pavia: Graduated by the medical School of the University of Pavia with the score of 110/110. 1988-1994 Associate researcher at the Washington University Medical School, St Louis, Mo, at the Center for Genetic in Medicine, part of the project “Physical Mapping of the Human X Chromosome”. Several publications followed these researches (Little RD, Porta G, Carle GF, Schlessinger D, D'Urso M. Yeast artificial chromosome with 200- to 800-Kilobase inserts of human DNA containing HLA, Vk, 5S, and Xq24-Xq28 sequences. Proc Natl Acad Sci (1989), Little RD, Abidi F, Porta G, Labella T, Cooper T, Della Valle G, D'Urso M, Schlessinger D. Human Xq24-Xq28: approaches to mapping with yeast artificial chromosome. Am J Hum Genet (1990) 1994-1998. Researcher of medical genetics in the department of Hereditary and Human Pathologies. 1998 Cloning the gene responsible for the X-linked lymphoproliferative disease (XLP). The result of this study was published as the “Cloning of the gene responsible of X-linked lymphoproliferative disease (XLP)”. Coffey et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 20:129-135 1999- 2001 Visiting Scientist at National Institute for Aging (NIH) in Baltimore to create an animal model of the XLP. 2001-2005 Organization and management of the laboratory of Molecular Genetic in the Department of Experimental and Clinical Biomedical Sciences Principal Investigation of the operative unit 6 ( Connective Tissue) of the Automatized Cryobank for biological tissues sponsor by IRCCS Principal Investigator in the study of the cellular differentiation from mesenchymal cell to osteobasts and chondrocytes sponsor by COFIN 2003-2005. The research is following the molecular changes of the cells during the differentiation by real Time PCR to evaluate the correct expression in all the steps with a particular evidence to homeo-box genes. In collaboration with the CNR Milano and the Department of Medical Genetic of the University of Milan we are studying the pattern of expression of the gene located on the X chromosome in normal tissue versus breast tumors. The first phase of the study gave rise to a publication: Sirchia SM, Ramoscelli L, Grati FR, Barbera F, Cordini D, Rossella F, Porta G., Lesma E., Ruggeri A., Radice P., Simoni G., Miozzo M. (2005). Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells. CANCER RESEARCH. vol. 15, pp. 2039-2046. The application of real Time PCR techniques allowed us to evaluate the minimal residual disease in some hemathological disease. This study gave rise to two publications: Different real time PCR approaches for the fine quantification of SNP's alleles in DNA pools: assays development, characterization and pre-validation. Mattarucchi E, Marsoni M, Binelli G, Passi A, Lo Curto F, Pasquali F, Porta G. J Biochem Mol Biol. 2005 Sep 30;38(5):555-62 and Establishment and study of different Real-Time PCR assays for the quantification of cells with deletions of chromosome 7.Elia Mattarucchi, Milena Marsoni, Alberto Passi, Francesco Lo Curto, Francesco Pasquali, Giovanni Porta accepted by Molecular Diagnostic Total Impact Factor (November 2005) 118 |
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Qualifications and awards |
Member of the Italian Society of Human Genetic (SIGU) | |
Research interests |
The genetic basis of breast
cancer The fine evaluation of the pathogenic steps of hematological diseases like myeloid leukaemia and the study of Minimal Residual Disease in relation with therapy. The molecular evaluation of mesenchymal cells during their differentation in osteoblasts and chondrocytes, focusing the study on homeogenes. Gene expression in tissue regeneration and degeneration. |
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Teaching experience and appointments |
1994-1998 Teacher of Biology
and Genetics at the Course for Nurses and at the Course for laboratory
technicians. School of Medicine Occasional guess teacher at course of Genetics and Biology for the course of Medicine. School of Medicine Teacher at the school of Specialization in Medical Genetics University of Varese. Faculty of Medicine 1996-1999 Teacher of Biology and Genetics at the course of Physiotherapy at Bosisio Parini. 1999-2000 Sabbatical year. 2000-2002 Teacher of Biology and Genetics at the Course for Nurses and at the Course for laboratory technicians. School of Medicine 2002-2005 Teacher of Genetics at the lab technicians and radiology technicians. 2003-2005 Teacher of Genetics and Biology at the course for Motion Educators in Saronno 2005 Teacher at the Faculty of Biology teaching Diagnostic Technologies |
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Representative publications |
1. Riches PG, Walker SA,
Plebani A, and Porta G. The use of monoclonal subclass-specific antibodies
in the investigation of Igg paraproteins in human serum. Clinica Chimica
Acta (1985)146:207-213. I.F. 1.1 2. Whitehouse DB, Pilz AJ, Porta G, and Hopkinson DA. Rodanese isoenzymes in human tissue. Ann Hum Genet (1988) 52:1-10. 3. Little RD, Porta G, Carle GF, Schlessinger D, D'Urso M. Yeast artificial chromosome with 200- to 800-Kilobase inserts of human DNA containing HLA, Vk, 5S, and Xq24-Xq28 sequences. Proc Natl Acad Sci (1989) 86:1598-1602. PMID: 2537978 UI: 89160823 I.F. 10,5 4. Wada M, Little RD, Abidi F, Porta G, Labella T, Cooper T, Della Valle G, D'Urso M, Schlessinger D. Human Xq24-Xq28: approaches to mapping with yeast artificial chromosome. Am J Hum Genet (1990) 46:95-106. PMID: 2294758 UI: 90102443 I.F. 9,2 5. Porta G, Nagaraja R, Zucchi I, Johnson SK, Schlessinger D, Casamassimi A, Romano G, Montanaro V, D’Urso M. YAC-based mapping of the XLP syndrome in the context of Xq24-Xq25. Cytogenetics and Cell Genetics (1991) 58:2079-80. I.F. 3,5 6. Schlessinger D, Little RD, Freije D, Abidi F, Zucchi I, Porta G, Pilia G, Nagaraja R, Johnson S, Yoon J, Srivastava A, Kere J, Palmieri G, Ciccodicola A, Montanaro V, Romano G, Casamassimi A, D’Urso M. Yeast artificial chromosome-based genome mapping: some lessons from Xq24-Xq28. Genomics (1991) 11: 783-93. PMID: 1783389 UI: 92147122 I.F. 4,0 7. Porta G, Zucchi I, Hiller L, Green P, Nowotny V, D’Urso M, Schlessinger D. Alu and L1 sequence distribution in Xq24-Xq28, and their comparative utility in YAC contig assembly and verification. Genomics (1992) 16:417-425. I.F. 4,0 8. Wu BL, Milunsky A, Nelson D, Schmeckpeper B, Porta G, Schlessinger D, Skare J. High resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics (1993) 17:163-170. PMID: 8406447 UI: 94010882 I.F. 4,0 9. Pilia G, Porta G, Padayachee M, Malcolm S, Zucchi I, Villa A, Macchi P, Vezzoni P, Schlessinger D. Human CD40L gene maps between DXS144E and DXS300 in Xq26. Genomics (1994) 22:249-251. PMID: 7959785 UI: 95048387 I.F. 4,0 10. De Anderis C, Simoni G, Rossella F, Castagna C, Pesenti E, Porta G, Colucci G, Giustelli S, Pardi G, Semprini AE. HIV-1 proviral DNA polymerase chain reaction detection in chorionic villi after exclusion of maternal contamination by variable number of tandem repeats analysis. AIDS (1996) 10(7):711-5. PMID: 8805861 UI: 9639935 11. Lamartine J, Nichols KE, Yin L, Krainer M, Heitzmann F, Bernard A, Gaudi S, Lenoir GM, Sullivan JL, Ikeda JE, Porta G, Schlessinger D, Romeo G, Haber DA, Sylla BS, Harkin DP. Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region. Eur J Hum Genet (1996) 4:342-351. PMID: 9043868 UI: 97196779 I.F. 3,2 12. Porta G, MacMillan S, Nagaraja R, Mumm S, Zucchi I, Pilia G, Maio S, Featherstone T, Schlessinger D. 4.5 YAC/STS contig at 50 Kb resolution, spanning Xq25 deletion in two patients with lymphoproliferative syndrome (LYP). Genome Res (1997) 7:27-36. I.F. 5,542 13. Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjorkhaug L, Heitzmann F, Lamartine J, Gaudi S, Sylla BS, Lenoir GM, Castagnola E, Giacchino R, Porta G, Franco B, Romeo G. A new candidate region for the positional cloning of the XLP gene. Eur J Hum Genet (1998) 6:509-517. PMID: 9801876 UI: 99018684 I.F. 3,2 14. Nagaraja R, MacMillan S, Jones C, Masisi M, Pengue G, Porta G, Miao S, Casamassimi A, D'Urso M, Brownstein B, Schlessinger D. Integrated YAC/STS physical and genetic map of 22.5Mb of human Xq24-q26 at 56 kb inter-STS resolution. Genomics (1998) 52:247-66. PMID: 9790744 UI: 99009310 I.F. 3,489 15. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Faessler R, Jones A, Behloradsky BH, Achats H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 20:129-135. PMID: 9771704 UI: 98442647 I.F. 40,361 16. Monier K, Michalet X, Lamartine J, Schurra C, Heitzmann F, Yin L, Cinti R, Sylla BS, Creaven M, Porta G, Vourc'h C, Robert-Nicoud M, Bensimon A, Romeo G. High-resolution mapping of the X-linked lymphoproliferative syndrome region by FISH on combed DNA. Cytogenet Cell Genet (1998) 81:259-264. PMID: 9730614 UI: 98399863 I.F. 1,.878 17. Aguglia U, Le Piane E, Gambardella A, Messina D, Russo C, Sirchia SM, Porta G, Quattrone A. Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study. Epilepsia (1999) 40:1316-9. PMID: 10487199 UI: 99415121 I.F. 3,218 18. Sironi E, Cerri A, Tomasini D, Sirchia SM, Porta G, Rossella F, Grati FR, Simoni G. Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes. J Cutan Pathol. 2004 Apr;31(4):318-22 19. Karousou EG, Porta G, De Luca G, Passi A. Analysis of fluorophore-labelled hyaluronan and chondroitin sulfate disaccharides in biological samples. J Pharm Biomed Anal. 2004 Mar 1;34(4):791-5. 20. Karousou EG, Militsopoulou M, Porta G, De Luca G, Hascall VC, Passi A. Polyacrylamide gel electrophoresis of fluorophore-labeled hyaluronan and chondroitin sulfate disaccharides: application to the analysis in cells and tissues. Electrophoresis. 2004 Sep;25(17):2919-25 21. Sirchia SM, Ramoscelli L, Grati FR, Barbera F, Coradini D, Rossella F, Porta G, Lesma E, Ruggeri A, Radice P, Simoni G, Miozzo M. Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells. Cancer Res. 2005 Mar 15;65(6):2139-46. 22. Mattarucchi E, Marsoni M, Binelli G, Passi A, Lo Curto F, Pasquali F, Porta G.Different real time PCR approaches for the fine quantification of SNP's alleles in DNA pools: assays development, characterization and pre-validation. J Biochem Mol Biol. 2005 Sep 30;38(5):555-62 23. Establishment and study of different Real-Time PCR assays for the quantification of cells with deletions of chromosome 7.Elia Mattarucchi, Milena Marsoni, Alberto Passi, Francesco Lo Curto, Francesco Pasquali, Giovanni Porta accepted by Molecular Diagnostic |
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Clinical interests |
Genetic consultation of hereditary diseases. Molecular evaluation of breast cancer and evaluation of MRD in hematological malignancies.
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