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.
Pérez-Millán MI and Camper SA. Chapter 4: The Biology of Pituitary Stem Cells. IN Cellular Endocrinology in Health and Disease, (Conn M. ed) Elsevier, 2014, in press.
Pérez-Millán MI, Zeidler MG, Saunders TL, Camper SA, Davis SW. Efficient, specific, developmentally appropriate cre-mediated recombination in anterior pituitary gonadotropes and thyrotropes. Genesis. 51:785-92, 2013.
Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA. A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. Hum Mol Genet. 22:345-5, 2013
Fang Q, Giordimaina AM, Dolan DF, Camper SA, Mustapha M. Genetic background of Prop1 (df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol. 13:173-184, 2012.
Nasonkin IO, Ward RD, Bavers DL, Beuschlein F, Mortensen AH, Keegan CE, Hammer GD, Camper SA. Aged PROP1 deficient dwarf mice maintain ACTH production. PLoS One. 6:e28355, 2011.
*Castinetti F, *Brinkmeier ML, Gordon DF, Vella KR, Kerr JM, Mortensen AH, Hollenberg A, Brue T, Ridgway EC, Camper SA. PITX2 and PITX1 regulate thyrotroph function and response to hypothyroidism. Mol Endocrinol. 25:1950-60, 2011.