Elena Semina, PhD

Genetics

Title: Associate professor, Medical College of Wisconsin.

Education: Doctorate, National Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia, 1993; fellowship and postdoctoral studies, University of Iowa, 1994-1996.

Research interests: Embryogenesis, genetics and birth defects.

Representative publications:

• Semina EV, Reiter R, Leysens N. Cloning and Characterization of a Novel Bicoid-Related HomeoboxTranscription Factor Gene, RIEG, Involved in Rieger Syndrome. Nature Genetics, 14. 392-399, 1996.
• Semina EV, Reiter RS, Murray JC. A New Human Homeobox Gene OGI2X is a Member of the Most Conserved Homeobox Gene Family and is Expressed During Heart Development in Mouse. Human Molecular Genetics, 7(3): 415-422, 1998.
• Semina EV, Ferrell RE, Mintz-Hittner HA. A Novel Homeobox Gene PITX3 is Mutated in Families with Autosomal-Dominant Cataracts and ASMD. Nature Genetics, 19(2):167-170, 1998.
• Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J. Deletion in the Promoter Region and Altered Expression of Pitx3 Homeobox Gene in Aphakia Mice. Human Molecular Genetics, V. 9 (11): 1575-1585, 2000.
• Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the Human Fork-Head Transcription Factor Gene FOXE3 Cause Anterior Segment Ocular Dysgenesis and Cataracts. Human Molecular Genetics 10(3): 231-236, 2001.
• Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a Dominant Negative Homeodomain Mutation in Rieger Syndrome. Journal of Biological Chemistry, 276(25):23034-23041, 2001.
• Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. VSX1 (RINX) Mutation With Craniofacial Anomalies, Empty Sella, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells. Ophthalmology, Vol 111/4: 828-836, 2004.

Current grants: 

• PITX3 in Mammalian Ocular Development, NIH, principal investigator.

Contact information: 8701 Watertown Plank Road, Milwaukee, WI 53226-0509. Phone: (414) 456-4996. Fax: (414) 456-6516. E-mail: esemina@mcw.edu.