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James V. Neel Professor and Chair, Department of Human Genetics Professor, Department of Internal Medicine |
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| 4945 Buhl 1241 E Catherine St. SPC 5618 Ann Arbor, MI 48109 -5618 |
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Pituitary hormone deficiency diseases and adenomas are both common in humans. Many combined hormone deficiencies are caused by transcription factor defects. Lesions in the homeodomain transcriprion factor gene PROP1 are most prevalent cause of multiple pituitary hormone deficiencies, and defects in PITX2 cause Rieger syndrome, which can include growth hormone deficiency. We study Prop1, Pitx2, and other pituitary transcription factor genes using genetically engineered mice. We are also active in identification of genes involved in hearing and skeletal development.
2007 Roy O. Greep Award, Endocrine Society
2005 Distinguished Faculty Lectureship Award in Biomedical Research, University of Michigan
2002 NIH Merit Award
2000 John Boezi Memorial Alumnus Award in Biochemistry, Michigan State University
1996 University of Michigan, Faculty Recognition Award
1995 University of Michigan, Career Development Award
1992 National Alliance for Research on Schizophrenia and Depression, Young Investigator Award
1989 March of Dimes Basil O'Connor Starter Scholar Award
1986-1988 Princeton University, Postdoctoral Fellow
1984-1986 Institute for Cancer Research, Postdoctoral Fellow
1983 Michigan State University, Ph.D.Biochemistry
1976 University of Delaware, B.S.Chemistry
Giblin W, Chatterji M, Westfield G, Masud T, Theisen B, Cheng HL, DeVido J,
Alt FW, Ferguson DO, Schatz DG, Sekiguchi J. Leaky severe combined
immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1
mutation. Blood. 2009 Mar 26;113(13):2965-75. Epub 2009 Jan 6. PubMed PMID:
19126872; PubMed Central PMCID: PMC2662642.
Raskin L, Rennert G, Gruber SB. FOXP3 germline polymorphisms are not
associated with risk of breast cancer. Cancer Genet Cytogenet. 2009 Apr
1;190(1):40-2. PubMed PMID: 19264232.
Mustapha M, Fang Q, Gong TW, Dolan DF, Raphael Y, Camper SA, Duncan
RK. Deafness and permanently reduced potassium channel gene expression
and function in hypothyroid Pit1dw mutants. J Neurosci. 29:1212-23,
2009.
Brinkmeier ML, Davis SW, Carninci P, Macdonald JW, Kawai J, Ghosh D,
Hayashizaki Y, Lyons RH, Camper SA. Discovery of transcriptional
regulators and signaling pathways in the developing pituitary gland by
bioinformatic and genomic approaches. Genomics. Epub, 2009.
Ellsworth BS, Butts DL, Camper SA. Mechanisms underlying pituitary
hypoplasia and failed cell specification in Lhx3-deficient mice. Dev
Biol. 313:118-29, 2008.
Charles MA, Mortensen AH, Potok MA, Camper SA. Pitx2 deletion in
pituitary gonadotropes is compatible with gonadal development,
puberty, and fertility. Genesis. 46:507-14, 2008.
Davis SW, Camper SA. Noggin regulates Bmp4 activity during pituitary
induction. Dev Biol. 305:145-60, 2007.
Raetzman LT, Cai JX, Camper SA. Hes1 is required for pituitary growth
and melanotrope specification. Dev Biol. 304:455-66, 2007.
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