Alexander G. Bassuk, MD, PhD
Research Profile

Lab Members:

• Aimee Buhr (graduate student, genetics)
• Shan Chen (research assistant)
• Hatem El-Shanti (collaborator)

Affiliations:

• Department of Pediatrics
• Department of Neurology
• Interdisciplinary Program in Genetics (IDGP)

Model System:
Human genetics, mouse genetics, cell culture

Recent Publications:

1. Wang C.Y., Bassuk A.G., Boise L.H., Thompson, C.B., Bravo, R., and Leiden, J.M. Activation of the Granulocyte-Macrophage Colony Stimulating Factor Promoter in T Cells Requires Cooperative Binding of Elf-1 and AP-1 Transcription Factors. Molecular and Cellular Biology 14, 1153-1159. 1994.
2. Bassuk, A.G. and J.M. Leiden. A Direct Physical Interaction Between ETS and AP-1 Transcription Factors in Normal Human T Cells. Immunity 3, 223-237. 1995.
3. Bassuk, A.G. Protein-Protein Interactions and Developmental Expression of ETS Transcription Factors: Elf-1 as a Model Protein. Doctoral Dissertation, June 1996.
4. Bassuk A.G., Anandappa, R.A., and Leiden, J.M. Physical Interactions between Ets and
5. NF-κB/NFAT Proteins Play an Important Role in Their Cooperative Activation of the Human Immunodeficiency Virus Enhancer in T Cells. Journal of Virology 71, 3563-3573. 1997.
6. Bassuk A.G., and J.M. Leiden. Expression Pattern of the Ets-related Transcription Factor Elf-1. Molecular Medicine 4, 392-401, and cover photo. 1998.
7. Bassuk, A.G., Burrowes, D.M., and McRae, W. Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours. Neurology 60, 1552-1553. 2003.
8. Bassuk, A.G., Burrowes D.M., Velimirovic, B., Grant, J., and Keating, G.F. A child with spinal cord AVM presenting with raised intracranial pressure. Neurology 60, 1724-1725. 2003.
9. Bassuk A.G., Joshi A., Burton B.K., Larsen M.B., Burrowes D.M., Stack, C. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 61,1014-1015. 2003.
10. Bassuk, A.G., Keating, G.F., Stumpf, D.A., Burrowes, D.M., Stack, C. Systemic lymphoma mimicking disseminated encephalomyelitis. Pediatric Neurology 30, 129-131. 2004.
11. Bassuk, A.G., Mclone, D., Bowman, R., Kessler, J.A. Autosomal Dominant Occipital Cephalocele. Neurology, 62, 1888-1890. 2004.
12. Benz, L.P., Swift, F.E., Graham, F.L., Enterline, D.S., Melvin, E.C., Hammock, P., Gilbert, J.R., Bassuk, A.G., Kessler, J.A., Speer, M.C., George, T.M., and the NTD Collaborative Group. TERC is not a major gene in Human Neural Tube Defects. Birth Defects Research Part A Clinical and Molecular Teratology, 70,:531-3. 2004.
13. Bassuk, A.G., Jalali, A., Mukhopadyay, A., Epstein, L.G., Charrow, J., Uzel, G., Craig, D., Mclone, D.,
14. Bowman, R., Stephan, D., and Kessler, J.A. Genetics of Tethered Cord Syndrome. American Journal of Medical Genetics Part A, 132, 450-3.2005.
15. Sebold, C.D., Melvin, E.C., Siegel, D., Mehltretter, L., Enterline, D.S., Nye, J.S., Bassuk, A.G., Speer, M.C., and George, T.M. Recurrence Risks for Neural Tube Defects in Siblings of Patients with Lipomyelomeningocele. Genetics in Medicine 7, 64-7. 2005.
16. Rampersaud E., Bassuk A.G., Enterline, D.S., M. T., Siegel, D.G., Melvin, E.C., Aben, J., Allen, J., Aylsworth, A., Brei T., Bodhurtha, J., Buran, C., Floyd, L.E., Hammock, P., Iskandar, B., Ito, J., Kessler, J.A., Lasarsky, N., Mack, P., Mackey, J., McLone, D., Meeropol, E., Mehltretter, L., Mitchell, L.E., Oakes, W.J., Nye, J.S., Powell, C., Sawin, K., Stevenson, R., Walker, M., West, S.G., Worley, G., Gilbert, J.R., Speer, M.C. Whole genome-wide linkage screen for Neural Tube Defects reveals regions of interest on chromosomes 7 and 10. Journal of Medical Genetic 12, 940-6. 2005.
17. Deak, K.L., Boyles, A.L., Etchevers, H..C, Melvin, E.C., Siegel, D.G., Graham, F.L., Slifer, S.H., Enterline, D.S., George, T.M., Vekemans, M., McClay, D., Bassuk, A.G., Kessler, J..A, Linney, .E, Gilbert, J.R., Speer, M.C.; NTD Collaborative Group. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Human Genetics 117, 133-42. 2005.
18. Deak K.L., Dickerson M.E., Linney E., Enterline D.S., George T.M., Melvin E.C., Graham F.L., Siegel D.G., Hammock P, Mehltretter L, Bassuk A.G., Kessler J.A., Gilbert J.R., Speer M.C.; NTD Collaborative Group.
19. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res A Clin Mol Teratol 73, 868-75. 2005.
20. Bassuk, A.G., Mohile ,N.A., Stack ,C. T-cell lymphoma presenting with neurologic features in immunocompetent children Pediatr Neurol 35, 314-7. 2006.
21. Bassuk, A.G., Chen, Y.Z., Bastish, S.D., Nagan ,N., Opal, P., Chance, P.F., Bennett, C.L. In cis autosomal dominant mutation of Sentaxin associated with tremor/ataxia syndrome. Neurogenetics, Epub ahead of print. 2006.
22. Lu, W., Quintero-Rivera, F., Fan1,Y., Alkuraya, F., Donovan, D.J., Xi, Q., Turbe-Doan, A., Li, Q., Campbell,C.G., Shanske, A.L., Pennacchio, L.A., Sherr, E., Ahmad, A., Peters, R., Rilliet, B., Parvex, P., Bassuk, A.G., Harris, D.J., Ferguson, H., Kelly, C., Walsh, C., Gronostajski, R.M., Higgins, A., Ligon, A.H., Quade, B.J., Morton, C.C., Gusella, J.F., and Maas, R.L. NFIA Haploinsufficiency is Associated with a CNS Malformation Syndrome and Urinary Tract Defects. PLoS Genet. 2007 May 25;3(5):e80.
23. Kan L., Jalali A., Zhao L.R., Zhou X., McGuire T., Kazanis I., Episkopou V., Bassuk, A.G, Kessler J.A. Dual function of Sox1 in telencephalic progenitor cells. In Press, Developmental Biology.