Lora H Bean, Ph.D.
Office: EGL Genetics, 2460 Mountain Industrial Boulevard, Tucker, GA 30084
Working with Dr. Stephanie Sherman (Human Genetics) and Dr. Ken Dooley (Pediatrics), we are ascertaining a large sample of Down syndrome with complete atrioventricular septal defect (AVSD) from the Sibley Heart Center, Children's Healthcare of Atlanta and the surrounding Southeastern region. A biological sample, family history, and an environmental exposure history are collected from each family. Combined with the Down syndrome population previously ascertained by the Sherman Lab, this Down syndrome with AVSD population will allow us to conduct several lines of investigation into the genetic causes of AVSD, and analyze our results in the context of environmental exposures. In addition, we are interested in the role that genetic variation within known congenital heart defect genes may play in the etiology of heart defects in Down syndrome.
Kerstann KF, Freeman S, Feingold E, Meltzer M, Heffner A, Bean LJH, Capone G, and Sherman SL (2004) Genetics variants associated with increased susceptibility for Down syndrome-associated atrioventricular septal defects.Genetic Epidemiology. 27(3): 240-251.
Bean LJH and Stark GR (2002) Regulation of the accumulation and function of p53 by phosphorylation of two residues within the domain that binds to Mdm2. J. Biol. Chem. 277: 1864-1871
Bean LJH and Stark GR (2001) Phosphorylation of serines 15 and 37 is necessary for efficient accumulation of p53 following irradiation with UV. Oncogene 20:1076-1084.
Agarwal ML, Ramana CV, Hamilton M, Taylor WR, DePrimo SE, Bean LJH, Agarwal A, Agarwal MK, Wolfman A and Stark GR (2001) Regulation of p53 expression by the RAS-MAP kinase pathway.Oncogene 20: 2527-2536.
Chernov MV, Bean LJH, Lerner N, and Stark GR (2001) An alternative mechanism regulating p53 ubiquitination and degradation in unstressed cells. J. Biol. Chem. 276: 31819-31824.
- PhD, Emory University, Department of Human Genetics, Advisor: Stephanie Sherman, PhD, 2001-2004
- PhD, Case Western Reserve University, Department of Genetics, 2002
- BSc, The Pennsylvania State University, 1995
- View publications on PubMed