Keith Adam Choate MD, PhD, FAAD

Associate Professor of Dermatology, of Genetics and of Pathology

Research Interests

Human Genetics; Genodermatoses; Gene Discovery; Genetic Mosaicism; Disorders of keratinization; Mosaic skin disorders; Stem cell biology; Developmental biology; Epidermal differentiation; Sequencing technology

Research Summary

We employ a comprehensive approach human genetic disorders, attempting to understand their clinical presenations by studying their genetics and pathobiology. Using genetic tools, we have identified new genetic causes of inherited disorders and we are actively studying how these genes function in health and disease.

Selected Publications

  • Choate KA, Lu Y, Zhou J, Choi M, Elias P, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree AF, Milstone LM, Lifton RP. 2010. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science. 330:94-7. PMID: 20798280.
  • Yang CS, Lu Y, Farhi A, Nelson-Williams C, Khasgarian M, Glusac EJ, Lifton RP, Antaya RA, Choate KA. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. 2012. Pediatric Dermatology. In Press.
  • Ko CJ, McNiff JM, Bosenberg M, Choate K. Keratoacanthoma: clinical and histopathologic features of regression. 2012. J Am Acad Dermatol, Accepted for publication.
  • Choate KA, Medalie DA, Morgan JR, and Khavari PA. 1996. Corrective gene delivery in the human skin disease lamellar ichthyosis. Nature Medicine 2:1263-1267..
  • Choate KA, Kinsella T, Williams M, Nolan G, and Khavari PA. 1996. Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes. Human Gene Therapy. 7:2247-2253.
  • Freiberg RA, Spencer DM, Choate KA, Duh HJ, Schreiber SL, Crabtree GR and Khavari PA. 1997. Fas signal transduction triggers either proliferation or apoptosis in human fibroblasts. Journal of Investigative Dermatology. 108(2):215-219.
  • Choate KA and Khavari PA. 1997. Sustainability of keratinocyte gene transfer and cell survival in vivo. Human Gene Therapy. 8: 895-901.
  • Freiberg RA, Choate KA, Deng H, Alperin E, Shapiro LJ, and Khavari PA. 1997. A model of gene transfer in X-linked ichthyosis. Human Molecular Genetics. 6(6):927-33.

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