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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Narisawa A, et al. Among authors: gustavsson p. Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171071 Free PMC article.
Grainyhead genes and mammalian neural tube closure.
Gustavsson P, Copp AJ, Greene ND. Gustavsson P, et al. Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):728-35. doi: 10.1002/bdra.20494. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18683893 Review.
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND. Robinson A, et al. Among authors: gustavsson p. Birth Defects Res A Clin Mol Teratol. 2013 Jun;97(6):398-402. doi: 10.1002/bdra.23141. Epub 2013 Jun 3. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 23733478 Free PMC article.
Alpha-cardiac actin mutations produce atrial septal defects.
Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N. Matsson H, et al. Among authors: gustavsson p. Hum Mol Genet. 2008 Jan 15;17(2):256-65. doi: 10.1093/hmg/ddm302. Epub 2007 Oct 18. Hum Mol Genet. 2008. PMID: 17947298
309 results