Cell Biology; Genetics, Medical; Musculoskeletal Diseases; Human Genome Project; Skin and Connective Tissue Diseases
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.
- 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
- 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 a
- 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..