Elena Semina, PhD

Titles
Investigator, Children's Research Institute; professor, Medical College of Wisconsin.

Division
Genetics

Research center/program
Cardiothoracic Surgery, Regenerative Medicine and Developmental Biology

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

Research interests
Cell and developmental biology, eye diseases, genetic diseases/genomics

Study interests
Birth defects, embryogenesis, genetics.

Representative publications

• Semina EV, Reiter R, Leysens N. Cloning and Characterization of a Novel Bicoid-related Homeobox Transcription Factor Gene, RIEG, Involved in Rieger Syndrome. Nature Genetics. 1996; 14:392-399.
• 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. 1998; 7(3): 415-422.
• Semina EV, Ferrell RE, Mintz-Hittner HA. A Novel Homeobox Gene PITX3 is Mutated in Families with Autosomal-dominant Cataracts and ASMD. Nature Genetics. 1998; 19(2):167-170.
• 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. 2000; 9(11):1575-1585.
• 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. 2001; 10(3):231-236.
• 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. 2001; 276(25):23034-23041.
• 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. 2004; 111(4):828-836.

Grants

• PITX3 in Mammalian Ocular Development, National Institutes of Health, principal investigator.

Contact
Children's Research Institute
8701 Watertown Plank Road,
Wauwatosa, WI 53226
Phone: (414) 456-4996
Fax: (414) 456-6516
E-mail: esemina@mcw.edu