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Thomas Jefferson University - Jouni J. Uitto, M.D., Ph.D.
Jouni J. Uitto, M.D., Ph.D.

Dermatology and Cutaneous Biology
Thomas Jefferson University
Jefferson Medical College
Department of Dermatology & Cutaneous Biology
Professor and Chair
Director, Jefferson Institute of Molecular Medicine

Thomas Jefferson University
Jefferson Medical College
Professor of Biochemistry and Molecular Biology(secondary appointment)

Director, Jefferson Institute of Molecular Medicine
Mailing Address
233 S 10th Street
Philadelphia, Pennsylvania 19107
United States
Contact Information
Phone: (215) 503-5785
Jouni.Uitto@jefferson.edu
Qualifications
M.D., University of Helsinki, 1970
Board Certified in Dermatology, 1978

Ph.D., Biochemistry, 1970

Expertise and Research Interests
Jouni Uitto, MD, PhD, has been professor of dermatology and cutaneous biology, and biochemistry and molecular biology, and chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College, in Philadelphia, Pennsylvania, since 1986. He is also Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University. He received his MD and PhD degrees from the University of Helsinki, Finland, and completed his residency training in dermatology at Washington University School of Medicine, St. Louis, Missouri.

Dr Uitto is internationally recognized for his research on connective tissue biochemistry and molecular biology in relation to cutaneous diseases and skin aging. Dr Uitto's publications include 583 original articles in peer-reviewed journals, 273 textbook chapters and review articles, and 880 abstracts on presentations at national and international meetings.

Dr Uitto has been the recipient of numerous national and international awards, including a Research Career Development Award from the National Institutes of Health, the Distinguished Service Award from the Dystrophic Epidermolysis Bullosa Research Association of America, the William Montagna Lectureship Award from the Society for Investigative Dermatology, the Hermann Pinkus as well as Elson B. Helwig Memorial Lectureship Awards from the American Society of Dermatopathology, the Earl of Litchfield Lectureship Award of Oxford University, The Dohi Memorial Lectureship Award from the Japanese Dermatological Society, and the Kung-Sun Oh Memorial Lectureship from Yonsei University, Seoul, Korea. In 1993, he was selected as the recipient of the Marion B. Sulzberger Memorial Award and Lectureship and was designated as the "Professor of the Year" by the American Academy of Dermatology. Dr Uitto has been awarded the prestigious Matti Äyräpää Lectureship, the highest physician-scientist award in his native country, Finland. In 1996, Dr Uitto was appointed as Anglo-American Visiting Professor of the Royal Society of Medicine, London, United Kingdom. He has received an Honorary Doctorate in Medicine from the University of Kuopio and the University of Oulu, Finland, as well as the Honorary Professor title from China Medical University, and Honorary Visiting Professor from the University of Helsinki. Most recently, he was the recipient of the first SID Kligman/Frost Leadership Award presented at IID 2008, Kyoto, Japan, and he was the recipient of the Honorary Doctorate Degree in Medicine from the University of Turku in 2009.

Dr. Uitto has held office in several scientific and professional societies, including President of the Society for Investigative Dermatology, President and Chairman of the Board of Trustees, the Dermatology Foundation, Member and Chair of the General Medicine A Study Section, Board of Scientific Counselors, National Cancer Institute, and National Advisory Council, National Institute for Arthritis and Musculoskeletal and Skin Diseases, all at National Institutes of Health. Dr Uitto is also section editor of the Journal of Investigative Dermatology and is on the editorial boards of numerous peer-reviewed journals.
Languages
Finnish, Swedish, German
Publications
  • REPRESENTATIVE PUBLICATIONS (Total of 580 Original Peer-reviewed Publications, 10 Submitted Articles, 273 Reviews and Book Chapters, and 880 Abstracts on Scientific Presentations):

  • 1. Parente, M.G., Chung, L.C., Woodley, D.T., Wynn, K.C., Bauer, E.A., Mattei, M.-G., Chu, M.-L., Uitto, J.: Human Type VII Collagen: cDNA Cloning and Chromosomal Mapping of the Gene. Proc. Natl. Acad. Sci. USA 88:6931-6935, 1991.

  • 2. Ryynänen, M., Knowlton, R.G., Parente, M.G., Chung, L.C., Chu, M.-L., Uitto, J.: Human Type VII Collagen: Genetic Linkage of the Gene (COL7A1) on Chromosome 3 to Dominant Dystrophic Epidermolysis Bullosa. Am. J. Human Genet. 49:797-803, 1991.

  • 3. Li, K., Sawamura, D., Giudice, G.J., Diaz, L.A., Mattei, M.-G., Chu, M.-L., Uitto, J.: Genomic Organization of Collagenous Domains and Chromosomal Assignment of Human 180-kD Bullous Pemphigoid Antigen (BPAG2), A Novel Collagen of Stratified Squamous Epithelium. J. Biol. Chem. 266:24064-24069, 1991.

  • 4. Ryynänen, M., Ryynänen, J., Sollberg, S., Iozzo, R.V., Knowlton, R.G., Uitto, J.: Genetic Linkage of Type VII Collagen(COL7A1) to Dominant Dystrophic Epidermolysis Bullosa in Families with Abnormal Anchoring Fibrils. J. Clin. Invest. 89:974-980, 1992.

  • 5. Christiano, A.M., Greenspan, D.S., Hoffman, G.G., Zhang, X., Tamai, Y., Lin, A.N., Dietz, H.C., Hovnanian, A., Uitto, J.: A Missense Mutation in Type VII Collagen in Two Affected Siblings with Recessive Dystrophic Epidermolysis Bullosa. Nature Genet. 4:62-66, 1993.

  • 6. Pulkkinen, L., Christiano, A.M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J.: Mutations in the g2 Chain Gene (LAMC2) of Kalinin/Laminin 5 in the Junctional Forms of Epidermolysis Bullosa. Nature Genet. 6:293-298, 1994.

  • 7. Kivirikko, S., McGrath, J.A., Aberdam, D., Ciatti, S., Baudoin, C., Dunnill, M.G.S., McMillan, J.R., Eady, R.A.J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A.M.: A Homozygous Nonsense Mutation in the a3 Chain Gene of Laminin 5 (LAMA3) in Lethal (Herlitz) Junctional Epidermolysis Bullosa. Hum. Mol. Genet. 4:959-962, 1995.

  • 8. McGrath, J.A., Gatalica, B., Christiano, A.M., Li, K., Owaribe, K., McMillan, J.R., Eady, R.A.J., Uitto, J.: Mutations in the Gene Encoding the 180-kD Bullous Pemphigoid Antigen (BPAG2), a Hemidesmosomal Transmembrane Collagen (Type XVII), in Generalized Atrophic Benign Epidermolysis Bullosa. Nature Genet. 11:83-86, 1995.

  • 9. Christiano, A.M., Anton-Lamprecht, I., Amano, S., Ebschner, U., Burgeson, R.E., Uitto, J.: Compound Heterozygosity for COL7A1 Mutations in Twins with Dystrophic Epidermolysis Bullosa: A Recessive Paternal Deletion/Insertion Mutation and a Dominant Negative Maternal Glycine Substitution Result in a Severe Phenotype. Am. J. Human Genet. 58:682-693, 1996.

  • 10. McGrath, J.A., Gatalica, B., Li, K., Dunnill, M.G.S., McMillan, J.R., Christiano, A.M., Eady, R.A.J., Uitto, J.: Compound Heterozygosity for a Dominant Glycine Substitution and a Recessive Internal Duplication Mutation in the Type XVII Collagen Gene Results in Junctional Epidermolysis Bullosa and Abnormal Dentition. Am. J. Pathology 148:1787-1796, 1996.

  • 11. Kivirikko, S., McGrath, J.A., Pulkkinen, L., Uitto, J., Christiano, A.M.: Mutational Hotspots in the LAMB3 Gene in the lethal (Herlitz) Type of Junctional Epidermolysis Bullosa. Hum. Mol. Genet. 5:231-237, 1996.

  • 12. Christiano, A.M., McGrath, J.A., Tan, K.C., Uitto, J.: Differential Position-Independent Effects of Glycine Substitutions in the Triple-Helical Region of Type VII Collagen Result in a Spectrum of Dystrophic Epidermolysis Bullosa Phenotypes and Patterns of Inheritance. Am. J. Human Genet. 58:671-681, 1996.

  • 13. Pulkkinen, L., Bullrich, F., Czarnecki, P., Weiss, L., Uitto, J.: Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa. Am. J. Hum. Genet. 61:611-619, 1997.

  • 14. Jonkman, M.F., Scheffer, H., Stulp, R., Pas, H.H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J.: Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion. Cell 88:543-551, 1997.

  • 15. Vindevoghel, L., Lechleider, R.J., Kon, A., de Caestecker, M., Uitto, J., Roberts, A., and Mauviel, A.: SMAD3/4-Dependent Transcription of the Human Type VII Collagen Gene (COL7A1) Promoter by Transforming Growth Factor-b. Proc. Natl. Acad. Sci., U.S.A. 95:14769-14774, 1998.

  • 16. Heinonen, S., Männikkö, M., Klement, J., Whitaker-Menezes, D., Murphy, G.F., and Uitto, J.: Targeted Inactivation of the Type VII Collagen Gene in Mice Results in Severe Blistering Phenotype: A Model for Recessive Dystrophic Epidermolysis Bullosa. J. Cell Sci. 112:3641-3648, 1999.

  • 17. Aho, S., Buisson, M., Pajunen, T., Ryoo, Y.W., Giot, J-F., Gruffat, H., Sergeant, A., and Uitto, J.: Ubinuclein, a Novel Nuclear Protein Interacting with Cellular and Viral Transcription Factors. J. Cell Biol. 148:1165-1176, 2000.

  • 18. Ringpfeil, F., Lebwohl, M.G., Christiano, A.M., and Uitto, J.: Pseudoxanthoma Elasticum: Mutations in the MRP6 Gene Encoding a Transmembrane ABC Transporter. Proc. Natl. Acad. Sci. U.S.A. 97:6001-6007, 2000.

  • 19. Ringpfeil, F., Nakano, A., Uitto, J., and Pulkkinen, L.: Compound Heterozygosity for a Recurrent 16.5 kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum. Am. J. Hum. Genet. 68:642-652, 2001.

  • 20. Richard, G., Rouan, F., Willoughby, C.E., Brown, N., Chung, P., Ryynänen, M., Jabs, E.W., Bale, S.J., DiGiovanna, J.J., Uitto, J., and Russell, L.: Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichythosis-Deafness Syndrome. Am. J. Hum. Genet. 70:1341-1348, 2002.

  • 21. Markova, D., Zou, Y., Ringpfeil, F., Sasaki, T., Kostka, G., Timpl, R., Uitto, J., and Chu, M.L.: Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication Within the Fibulin-5 (FBLN) Gene and Reduced Expression of Fibulin-2 and Elastin Genes. Am. J. Hum. Genet. 72:998-1004, 2003.

  • 22. Aho, S., Li, K., Ryoo, Y., McGee, C., Ishida-Yamamoto, A., Uitto, J., and Klement, J.: Periplakin Gene Targeting Reveals a Constituent of the Cornified Cell Envelope Dispensable for Normal Mouse Development. Mol. Cell. Biol. 24:6410-6418, 2004.

  • 23. Klement, J.F., Matsuzaki, Y., Jiang, Q.-J., Y., Terlizzi, J., Choi, H.Y., Fujimoto, N., Li, K., Pulkkinen, L., Birk, D.E., Sundberg, J.P., and Uitto, J.: Targeted Ablation of the ABCC6 Gene Results in Ectopic Mineralization of Connective Tissues. Mol. Cell Biol. 25:8299-8310, 2005.

  • 24. Varki, R., Sadowski, S., Pfendner, E., and Uitto, J.: Epidermolysis Bullosa. I. Molecular Genetics of the Junctional and Hemidesmosomal Variants. J. Med. Genet. 43:641-652, 2006.

  • 25. Varki, R., Sadowski, S., Uitto, J., and Pfendner, E.: Epidermolysis Bullosa. II. Type VII Collagen Mutations and Phenotype/Genotype Correlations in the Dystrophic Subtypes. J. Med. Genet. 44:181-192, 2007.

  • 26. Kawachi, M., Tamai, K., Saga, K., Yamazaki, T., Fujita, H., Shimbo, T., Nimura, K., Nishifuji, K., Amagai, M., Uitto, J., and Kaneda, Y.: Development of Tissue-Targeting HVJ Envelope Vector for Successful Delivery of Therapeutic Gene to Mouse Skin. Human Gene Ther. 18:881-894, 2007.

  • 27. Chino, T., Tamai, K., Yamazaki, T., Otsuru, S., Kikuchi, Y., Nimura, K., Endo, M., Nagai, M., Uitto, J., Kitajima, Y., Kaneda, Y.: Bone Marrow Cell Transfer into Fetal Circulation Can Ameliorate Genetic Skin Diseases by Providing Fibroblasts to the Skin and Inducing Immune Tolerance. Am. J. Pathol. 173:803-814, 2008.

  • 28. Jiang, Q., Endoh, M., Dibra, F., Wang, F., and Uitto, J.: Pseudoxanthoma Elasticum is a Metabolic Disease. J. Invest. Dermatol. 129:348-353, 2009

  • 29. Li, Q., Schurgers, L.J., Smith, A.C.M., Tsokos, M., Uitto, J., and Cowen, E.W.: Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene. Am. J. Pathol. 174:534-540, 2009.

  • 30. Ito, K., Sawamura, D., Goto, M., Nakamura, H., Nishie, W., Sakai, K., Natsuga, K., Shinkuma, S., Shibaki, A., Uitto, J., Denton, C.P., Nakajima, O., Akiyama, M., Shimizu, H.: Keratinocyte-/Fibroblast-Targeted Rescue of Cola1-Disrupted Mice and Generation of an Exact Dystrophic Epidermolysis Bullosa Model Using a Human COL17A1 Mutation. Am. J. Pathol. (in press).

Individual Expertise profile of Jouni J. Uitto, M.D., Ph.D., Copyright © Jouni J. Uitto, M.D., Ph.D..
Last Updated by Jouni Uitto, M.D., Ph.D. : Friday, November 20, 2009 1:16:45 PM



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