Dr. Peacocke has a long-standing interest in genetic basis of inherited skin diseases, and initially mapped the Wiskott-Aldrich syndrome to the proximal short arm of the X chromosome. Her current research focuses on the role of retinoic acid and its nuclear receptors in the control of growth, differentiation and cellular aging. Recent studies performed in her laboratory have suggested that one of these receptors may be the cause of Cowden's disease, an autosomal dominant disorder characterized by benign skin tumors and lethal breast cancer. The experiments outlined in this proposal will provide a molecular framework for a more effective understanding of the molecular pathology of Cowden's disease.
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|Celebi, J T; Wanner, M; Ping, X L et al. (2000) Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. Hum Genet 107:234-8|
|Celebi, J T; Shendrik, I; Silvers, D N et al. (2000) Identification of PTEN mutations in metastatic melanoma specimens. J Med Genet 37:653-7|
|Celebi, J T; Tanzi, E L; Yao, Y J et al. (1999) Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. J Invest Dermatol 113:848-50|
|Celebi, J T; Tsou, H C; Chen, F F et al. (1999) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 36:360-4|
|Tsou, H C; Ping, X L; Xie, X X et al. (1998) The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. Hum Genet 102:467-73|
|Tsou, H C; Teng, D H; Ping, X L et al. (1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 61:1036-43|