Sally A. Camper, Ph.D.
James V. Neel Professor and Chair
Department of Human Genetics
Professor, Department of Internal Medicine
Genetics of Birth Defects: neuroendocrine, auditory, and skeletal development. We use two main approaches in our birth defects research - sequencing patient DNA to identify novel disease genes and use of cell culture and animal models, especially the mouse, to understand the mechanism and pathophysiology of disease. Genetically engineered mice that model human disease are also valuable for testing therapeutic interventions. We are particularly interested in the genetic control of differentiation and cell proliferation that pertains to stem cells, progenitors and specialized cells. We study transcriptional regulation, cell signaling, and the interaction of these.
Nasonkin et al. Aged PROP1 deficient dwarf mice maintain ACTH production. PLoS One. 6(12):e28355, 2011.
Fang et al. Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol. 13:173-84, 2012.
Castinetti et al. PITX2 AND PITX1 regulate thyrotroph function and response to hypothyroidism. Mol Endocrinol. 25:1950-60, 2011.
Fang et al. A modifier gene alleviates hypothyroidism-induced hearing impairment in Pou1f1dw dwarf mice. Genetics. 189:665-73, 2011.
Mortensen et al. Candidate genes for panhypopituitarism identified by gene expression profiling. Physiol Genomics. 43:1105-16, 2011.
Camper SA. Beta-catenin stimulates pituitary stem cells to form aggressive tumors. Proc Natl Acad Sci U S A. 108:11303-4, 2011.
Castinetti et al. Pituitary stem cell update and potential implications for treating hypopituitarism. Endocr Rev. 32:453-71, 2011
Davis et al. Birthdating studies reshape models for pituitary gland cell specification. Dev Biol. 352:215-27, 2011.