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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Unger S, et al. Among authors: barrionuevo f. Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297069
Sall1, sall2, and sall4 are required for neural tube closure in mice.
Böhm J, Buck A, Borozdin W, Mannan AU, Matysiak-Scholze U, Adham I, Schulz-Schaeffer W, Floss T, Wurst W, Kohlhase J, Barrionuevo F. Böhm J, et al. Among authors: barrionuevo f. Am J Pathol. 2008 Nov;173(5):1455-63. doi: 10.2353/ajpath.2008.071039. Epub 2008 Sep 25. Am J Pathol. 2008. PMID: 18818376 Free PMC article.
SOX E genes: SOX9 and SOX8 in mammalian testis development.
Barrionuevo F, Scherer G. Barrionuevo F, et al. Int J Biochem Cell Biol. 2010 Mar;42(3):433-6. doi: 10.1016/j.biocel.2009.07.015. Epub 2009 Jul 30. Int J Biochem Cell Biol. 2010. PMID: 19647095 Review.
Sox9 is required for notochord maintenance in mice.
Barrionuevo F, Taketo MM, Scherer G, Kispert A. Barrionuevo F, et al. Dev Biol. 2006 Jul 1;295(1):128-40. doi: 10.1016/j.ydbio.2006.03.014. Epub 2006 May 6. Dev Biol. 2006. PMID: 16678811 Free article.
Sox9 is required for invagination of the otic placode in mice.
Barrionuevo F, Naumann A, Bagheri-Fam S, Speth V, Taketo MM, Scherer G, Neubüser A. Barrionuevo F, et al. Dev Biol. 2008 May 1;317(1):213-24. doi: 10.1016/j.ydbio.2008.02.011. Epub 2008 Feb 21. Dev Biol. 2008. PMID: 18377888 Free article.
Dicer is required for Sertoli cell function and survival.
Kim GJ, Georg I, Scherthan H, Merkenschlager M, Guillou F, Scherer G, Barrionuevo F. Kim GJ, et al. Among authors: barrionuevo f. Int J Dev Biol. 2010;54(5):867-75. doi: 10.1387/ijdb.092874gk. Int J Dev Biol. 2010. PMID: 19876815 Free article.
47 results