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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: de castro sc. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.
Neural tube defects induced by folate deficiency in mutant curly tail (Grhl3) embryos are associated with alteration in folate one-carbon metabolism but are unlikely to result from diminished methylation.
De Castro SC, Leung KY, Savery D, Burren K, Rozen R, Copp AJ, Greene ND. De Castro SC, et al. Birth Defects Res A Clin Mol Teratol. 2010 Aug;88(8):612-8. doi: 10.1002/bdra.20690. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20589880 Free PMC article.
Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse.
Brouns MR, De Castro SC, Terwindt-Rouwenhorst EA, Massa V, Hekking JW, Hirst CS, Savery D, Munts C, Partridge D, Lamers W, Köhler E, van Straaten HW, Copp AJ, Greene ND. Brouns MR, et al. Among authors: de castro sc. Hum Mol Genet. 2011 Apr 15;20(8):1536-46. doi: 10.1093/hmg/ddr031. Epub 2011 Jan 24. Hum Mol Genet. 2011. PMID: 21262862 Free PMC article.
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: de castro sc. 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.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Among authors: de castro sc. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 Free PMC article.
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