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Photo of Alex Bassuk

Alex Bassuk

Associate Professor,  Pediatrics

Contact Information

Phone: +1 319 356 7726
Email: alexander-bassuk@uiowa.edu
Web:

Education

AB, University of Chicago
PhD, University of Chicago
MD, University of Chicago Pritzker School of Medicine

Appointments

Primary: Pediatrics
Secondary: Neurology

Centers and Program Affiliations

Interdisciplinary Graduate Program in Genetics
Interdisciplinary Graduate Program in Molecular and Cellular Biology
Interdisciplinary Graduate Program in Neuroscience

Research Interests

neural tube defects (NTDs), familial epilepsies, comparative genomic hybridization (CGH), copy number variation (CNV) analysis, transgenic mouse production, and cell culture

MeSH Terms from Publications

Neural Tube Defects, Humans, Pedigree, Mutation, DNA-Binding Proteins, Proto-Oncogene Proteins c-ets, Male, Encephalocele, LIM Domain Proteins, Animals, Female, Mice, Gene Expression Regulation, Developmental, Physical Chromosome Mapping, Dandy-Walker Syndrome, Mutation, Missense, Genetic Predisposition to Disease, Proto-Oncogene Protein c-ets-1, Transcription Factors, Polymorphism, Single Nucleotide, Myoclonic Epilepsies, Progressive, Occipital Bone, Nuclear Proteins, Tumor Suppressor Proteins, Syndrome

Research Summary

Congenital defects of the nervous system, especially neural tube defects, familial epilepsy, neurogenetics, neural stem cell biology

Our laboratory is interested in understanding the basic mechanisms underlying both normal and disordered development of the nervous system. Our approach to these issues includes investigating the genetics of human neural tube defects (NTDs) and familial epilepsies, and elucidating the biology regulating neural stem cell development. The techniques used in our laboratory include genome wide linkage analysis (GWA), association studies, comparative genomic hybridization (CGH), copy number variation (CNV) analysis, transgenic mouse production, and cell culture. As part of our studies we have collected DNA samples from over 2000 patients and family members with congenital nervous system malformations, and several large families with autosomal recessive epilepsy syndromes.

Affiliations

Model System
Human genetics, mouse genetics, cell culture



Recent Publications


Show publications
  1. Kibar, Z, Salem, S, Bosoi, C M, Pauwels, E, De Marco, P, Merello, E, Bassuk, A G, Capra, V, Gros, P. Contribution of VANGL2 mutations to isolated neural tube defects. Clin Genet 80(1):76-82, 2011. [PubMed]
  2. Bosoi, C, Capra, V, Allache, R, Trinh, V, De Marco, P, Merello, E, Drapeau, P, Bassuk, A, Kibar, Z. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum Mutat 32(12):1371-5, 2011. [PubMed]
  3. Tao, H, Manak, J, Sowers, L, Mei, X, Kiyonari, H, Abe, T, Dahdaleh, N, Yang, T, Wu, S, Chen, S, Fox, M, Gurnett, C, Montine, T, Bird, T, Shaffer, L, Rosenfeld, J, McConnell, J, Madan-Khetarpal, S, Berry-Kravis, E, Griesbach, H, Saneto, R, Scott, M, Antic, D, Reed, J, Boland, R, Ehaideb, S, El-Shanti, H, Mahajan, V, Ferguson, P, Axelrod, J, Lehesjoki, A, Fritzsch, B, Slusarski, D, Wemmie, J, Ueno, N, Bassuk, A. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet 88(2):138-49, 2011. [PubMed]
  4. Jalali, A, Bassuk, A, Kan, L, Israsena, N, Mukhopadhyay, A, McGuire, T, Kessler, J. HeyL promotes neuronal differentiation of neural progenitor cells. J Neurosci Res 89(3):299-309, 2011. [PubMed]
  5. Mahajan, V, Olney, A, Garrett, P, Chary, A, Dragan, E, Lerner, G, Murray, J, Bassuk, A. Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. Am J Med Genet A 152A(11):2875-9, 2010. [PubMed]
  6. Tao, H, Abe, T, Kiyonari, H, Axelrod, JD, Bassuk, AG, Ueno, N, Aizawa, S. Nuclear localization of Prickle2 is required for the establishment of cell polarity during mouse early embryogenesis. DIFFERENTIATION 80(null):S57-S57, NOV 2010.
  7. Rubboli, G, Franceschetti, S, Canafoglia, L, Gambardella, A, Riguzzi, P, Dibbens, LM, Andermann, F, Bayly, MA, Joensuu, T, Vears, DF, Wallace, R, Bassuk, AG, Power, DA, Tassinari, CA, Andermann, E, Pasini, E, Lehesjoki, AE, Berkovic, SF, Michelucci, R. CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF PROGRESSIVE MYOCLONUS EPILEPSY ( PME) ASSOCIATED WITH SCARB2 MUTATIONS WITHOUT RENAL FAILURE. EPILEPSIA 51(null):23-23, JUN 2010.
  8. Mefford, H, Muhle, H, Ostertag, P, von Spiczak, S, Buysse, K, Baker, C, Franke, A, Malafosse, A, Genton, P, Thomas, P, Gurnett, C, Schreiber, S, Bassuk, A, Guipponi, M, Stephani, U, Helbig, I, Eichler, E. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6(5):e1000962, 2010. [PubMed]
  9. Bassuk, A, Kibar, Z. Genetic basis of neural tube defects. Semin Pediatr Neurol 16(3):101-10, 2009. [PubMed]
  10. Kibar, Z, Bosoi, C, Kooistra, M, Salem, S, Finnell, R, De Marco, P, Merello, E, Bassuk, A, Capra, V, Gros, P. Novel mutations in VANGL1 in neural tube defects. Hum Mutat 30(7):E706-15, 2009. [PubMed]