Faculty Interests Database

Faculty Affairs: Faculty Interests Database Jouni J. Uitto, MD, PhD

Dermatology & 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 Contact Information
233 S 10th Street, Room 450
Philadelphia, Pennsylvania 19107
United States
Phone: (215) 503-5785
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 636 original articles in peer-reviewed journals, 304 textbook chapters and review articles, and 929 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. Most recently, he was the recipient of the first SID Kligman/Frost Leadership Award presented at IID, Kyoto, Japan, and the recipient of the Van Scott Award for Innovative Therapy and Frost Leadership Lecture from the American Academy of Dermatology at Miami Beach, Florida. He has received an Honorary Doctorate in Medicine from the University of Kuopio, the University of Oulu, and the University of Turku, Finland, as well as the Honorary Professor title from China Medical University, and Honorary Visiting Professor from the University of Helsinki.

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.
Finnish, Swedish, German
  • REPRESENTATIVE PUBLICATIONS (Total of 636 Original Peer-reviewed Publications, 304 Reviews and Book Chapters, and 929 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. 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.
  • 17. 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.
  • 18. 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.
  • 19. 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.
  • 20. 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.
  • 21. 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.
  • 22. 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.
  • 23. 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.
  • 24 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. PMCID:PMC2527073
  • 25. Jiang, Q., Endoh, M., Dibra, F., Wang, F., and Uitto, J.: Pseudoxanthoma Elasticum is a Metabolic Disease. J. Invest. Dermatol. 129:348-353, 2009 PMCID:PMC3169309
  • 26. 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. PMCID:PMC2630561
  • 27. 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. 175:2508-2517, 2009. PMCID:PMC2789611
  • 28. Jiang, Q., Oldenburg, R., Otsuru, S., Grand-Pierre, A., Horwitz, E., Uitto, J.: Parabiotic Heterogenetic Pairing of Abcc6-/- and Wild-Type Mice Halts Progression of Ectopic Mineralization in a Murine Model of Pseudoxanthoma Elasticum. Am. J. Pathol. 176:1855-1862, 2010. PMCID:2843475
  • 29. Li., Q., Sadowski, S., Frank, M., Choi, C., Váradi, A., Ho, S., Hong, L., Dean, M., Thisse, C., Thisse, B., Uitto, J.: The abcc6a Gene Expression is Required for Normal Zebrafish Development. J. Invest. Dermatol. 130:2561-2568, 2010. PMCID:PMC3357064
  • 30. Alexeev, A., Uitto, J., Igoucheva, O.: Gene Expression Signatures of Mouse Bone Marrow-Derived Mesenchymal Stem Cells in Cutaneous Environment and Therapeutic Implications for Blistering Skin Disorder. Cytotherapy 13:30-45, 2011. PMID:20854215
  • 31. Jiang, Q., Quaynor, B., Sun, A., Li, Q., Matsui, H., Honda, H., Inada, T., Sprecher, E., Uitto, J.: The Samd9L Gene: Transcriptional Regulation and Tissue Specific Expression in Mouse Development. J. Invest. Dermatol. 131:1428-1434, 2011. PMCID:3173943
  • 32. Tamai, K., Yamazaki, T., Chino, T., Ishii, M., Otsuru, S., Kikuchi, Y., Iinuma, S., Saga, K., Nimura, K., Shimbo, T., Umegaki, N., Katayama, I., Miyazaki, U., Takeda, J., McGrath, J.A., Uitto, J., Kaneda, Y.: PDGFR±-Positive Cells in bone Marrow are Mobilized by HMGB1 to Regenerate Injured Epithelia. Proc. Nat. Acad. Sci. 108:6609-6614, 2011. PMCID:3081004
  • 33. Li, Q., Frank, M., Akiyama, M., Shimizu, H., Ho, S.-Y., Thisse C., Thisse, B., Sprecher, E., Uitto, J.: Abca12-Mediated Lipid Transport and Snap29-Dependent Trafficking of Lamellar Granules are Critical for Epidermal Morphogenesis in Zebrafish Disease Model of Ichthyosis. Dis. Model Mech. 4:777-785, 2011. PMCID:3209647
  • 34. Endo, M., Zoltick, P.W., Radu, A., Jiang, Q., Matsui, C., Marinkovich, P.M., McGrath, J., Tamai, K., Uitto, J., Flake, A.W.: Early Intra-Amniotic Gene Transfer Using Lentiviral Vector Improves Skin Blistering Phenotype in a Murine Model of Herlitz Junctional Epidermolysis Bullosa. Gene Ther. 19:561-569, 2012.(in press). PMID:22033464
  • 35. Li, Q., Berndt, A., Guo, H., Sundberg, J.P., Uitto, J.: A Novel Animal Model for Pseudoxanthoma Elasticum  the KK/HlJ Mouse. Am. J. Pathol. 181:1190-1196, 2012. PMCID:PMC3463623
  • 36. Berndt, A., Li, Q., Potter, C.S., Liang, Y., Silva, K.A., Kennedy, V., Yuan, R., Uitto, J., Sundberg, J.P.: A Single Nucleotide Polymorphism in the Abcc6 Gene Associates with Connective Tissue Mineralization in Mice Similar to Targeted Models for Pseudoxanthoma Elasticum. J. Invest. Dermatol. 133:833-836, 2013. PMID:23014343
  • 37. Adair-Kirk, T.L., Griffin, G.L., Meyer, M.J., Kelley, D.G., Miner, J.H., Keene, D.R., Marinkovich, M.P., Ruppert, J.M., Uitto, J., Senior, R.M.: Keratinocyte-Targeted Expression of Human Laminin g2 Rescues Skin Blistering and Early Lethality of Laminin g2 Deficient Mice. PLoS One 7:e45546, 2012. PMCID:PMC3445496
  • 38. Li, Q., Guo, H., Chou, D., Harrington, D., Schurgers, L.J., Terry, S.F., Uitto, J.: Warfarin Accelerates Ectopic Mineralization in Abcc6-/- Mice - Clinical Relevance to Pseudoxanthoma Elasticum. Am. J. Pathol. 182:1139-1150, 2013. PMID:23415960

Last Updated by Jouni Uitto, MD, PhD: Monday, January 16, 2012 10:44:58 AM

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