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The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Among authors: bassuk ag. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Rampersaud E, et al. Among authors: bassuk ag. J Med Genet. 2005 Dec;42(12):940-6. doi: 10.1136/jmg.2005.031658. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831595 Free PMC article.
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. Deak KL, et al. Among authors: bassuk ag. Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883837 Free PMC article.
Novel mutations in VANGL1 in neural tube defects.
Kibar Z, Bosoi CM, Kooistra M, Salem S, Finnell RH, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Kibar Z, et al. Among authors: bassuk ag. Hum Mutat. 2009 Jul;30(7):E706-15. doi: 10.1002/humu.21026. Hum Mutat. 2009. PMID: 19319979 Free PMC article.
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Cherepanova NS, et al. Among authors: bassuk ag. J Neurogenet. 2013 Jun;27(1-2):1-4. doi: 10.3109/01677063.2013.772176. Epub 2013 Mar 25. J Neurogenet. 2013. PMID: 23527921 Free PMC article.
TERC is not a major gene in human neural tube defects.
Benz LP, Swift FE, Graham FL, Enterline DS, Melvin EC, Hammock P, Gilbert JR, Speer MC, Bassuk AG, Kessler JA, George TM; NTD Collaborative Group. Benz LP, et al. Among authors: bassuk ag. Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):531-3. doi: 10.1002/bdra.20057. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 15329831
166 results