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Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA, Semina EV, Alward WL. Amendt BA, et al. Among authors: semina ev. Cell Mol Life Sci. 2000 Oct;57(11):1652-66. doi: 10.1007/pl00000647. Cell Mol Life Sci. 2000. PMID: 11092457 Review.
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF. Saadi I, et al. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):175-81. doi: 10.1002/bdra.20226. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16498627 Free PMC article.
The Pitx2 protein in mouse development.
Hjalt TA, Semina EV, Amendt BA, Murray JC. Hjalt TA, et al. Among authors: semina ev. Dev Dyn. 2000 May;218(1):195-200. doi: 10.1002/(SICI)1097-0177(200005)218:1<195::AID-DVDY17>3.0.CO;2-C. Dev Dyn. 2000. PMID: 10822271
Identification of a dominant negative homeodomain mutation in Rieger syndrome.
Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. Saadi I, et al. Among authors: semina ev. J Biol Chem. 2001 Jun 22;276(25):23034-41. doi: 10.1074/jbc.M008592200. Epub 2001 Apr 11. J Biol Chem. 2001. PMID: 11301317
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
Amendt BA, Sutherland LB, Semina EV, Russo AF. Amendt BA, et al. Among authors: semina ev. J Biol Chem. 1998 Aug 7;273(32):20066-72. doi: 10.1074/jbc.273.32.20066. J Biol Chem. 1998. PMID: 9685346
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Kulak SC, et al. Among authors: semina ev. Hum Mol Genet. 1998 Jul;7(7):1113-7. doi: 10.1093/hmg/7.7.1113. Hum Mol Genet. 1998. PMID: 9618168
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Alward WL, et al. Among authors: semina ev. Am J Ophthalmol. 1998 Jan;125(1):98-100. doi: 10.1016/s0002-9394(99)80242-6. Am J Ophthalmol. 1998. PMID: 9437321
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
Semina EV, Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC. Semina EV, et al. Am J Hum Genet. 1996 Dec;59(6):1288-96. Am J Hum Genet. 1996. PMID: 8940274 Free PMC article.
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Semina EV, et al. Nat Genet. 1996 Dec;14(4):392-9. doi: 10.1038/ng1296-392. Nat Genet. 1996. PMID: 8944018
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein.
Espinoza HM, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA. Espinoza HM, et al. Among authors: semina ev. Biochemistry. 2005 Mar 15;44(10):3942-54. doi: 10.1021/bi048362x. Biochemistry. 2005. PMID: 15751970
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