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Research Article

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

Pages 57-62 | Published online: 08 Jul 2009

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Stephanie N. Kletke, Ajoy Vincent, Jason T. Maynes, Uri Elbaz, Kamiar Mireskandari, Wai-Ching Lam & Asim Ali. (2020) A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy. Ophthalmic Genetics 41:4, pages 358-362.
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Trevor J. Pemberton, Gustavo Mendoza, Jason Gee & Pragna I. Patel. (2007) Inherited Dental Anomalies: A Review and Prospects for the Future Role of Clinicians. Journal of the California Dental Association 35:5, pages 325-333.
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Articles from other publishers (20)

Helen H. Yeung, Allison Loh & David S. Walton. 2022. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 6653 6671 .
Emily M. Zepeda, Kari Branham, Sayoko E. Moroi & Brenda L. Bohnsack. (2020) Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome. BMC Ophthalmology 20:1.
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Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen & Shazia Micheal. (2020) Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome . Molecular Genetics & Genomic Medicine 8:7.
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Helen H. Yeung, Allison Loh & David S. Walton. 2020. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 1 19 .
Sayoko E. Moroi, David M. Reed, David S. Sanders, Ahmed Almazroa, Lawrence Kagemann, Neil Shah, Nakul Shekhawat & Julia E. Richards. (2019) Precision medicine to prevent glaucoma-related blindness. Current Opinion in Ophthalmology 30:3, pages 187-198.
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Meredith Williams & Ariadne Letra. (2018) The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. Genes 9:5, pages 255.
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N Intarak, T Theerapanon, C Ittiwut, K Suphapeetiporn, T Porntaveetus & V Shotelersuk. (2018) A novel PITX2 mutation in non-syndromic orodental anomalies . Oral Diseases 24:4, pages 611-618.
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Morteza Seifi & Michael A. Walter. (2018) Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms. PLOS ONE 13:4, pages e0195971.
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Morteza Seifi, Tim Footz, Sherry A. M. Taylor, Ghada M. Elhady, Ebtesam M. Abdalla & Michael A. Walter. (2016) Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Acta Ophthalmologica 94:7, pages e571-e579.
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Mukesh Tanwar, Tanuj Dada & Rima Dada. (2010) Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. Case Reports in Medicine 2010, pages 1-6.
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Robert L Stamper, Marc F Lieberman & Michael V Drake. 2009. Becker-Shaffer's Diagnosis and Therapy of the Glaucomas. Becker-Shaffer's Diagnosis and Therapy of the Glaucomas 330 338 .
Karina Nagao & David S. Walton. 2008. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology 4201 4212 .
Nicole L Maciolek, Wallace LM Alward, Jeffrey C Murray, Elena V Semina & Mark T McNally. (2006) Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Medical Genetics 7:1.
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Christoph Kniestedt, Malgorzata Taralczak, Michael A. Thiel, Joerg Stuermer, Alessandra Baumer & Balder P. Gloor. (2006) A Novel PITX2 Mutation and a Polymorphism in a 5-Generation Family with Axenfeld–Rieger Anomaly and Coexisting Fuchs’ Endothelial Dystrophy. Ophthalmology 113:10, pages 1791-1797.e2.
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M. H. Quentien, A. Barlier, J. L. Franc, I. Pellegrini, T. Brue & A. Enjalbert. (2006) Pituitary Transcription Factors: From Congenital Deficiencies to Gene Therapy. Journal of Neuroendocrinology 18:9, pages 633-642.
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Yu. V. Markitantova, Yu. A. Smirnova, I. G. Panova, G. T. Sukhikh, R. D. Zinov’eva & V. I. Mitashov. (2006) Analysis of expression of regulatory genes Pax6, Prox1, and Pitx2 in differentiating eye cells in human fetus. Biology Bulletin 33:4, pages 339-346.
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Irfan Saadi, Rafael Toro, Adisa Kuburas, Elena Semina, Jeffrey C. Murray & Andrew F. Russo. (2006) An unusual class of PITX2 mutations in Axenfeld‐Rieger syndrome . Birth Defects Research Part A: Clinical and Molecular Teratology 76:3, pages 175-181.
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Amanda L. Evans & Philip J. Gage. (2005) Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Human Molecular Genetics 14:22, pages 3347-3359.
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Usha Vadlamudi, Herbert M. Espinoza, Mrudula Ganga, Donna M. Martin, Xiaoming Liu, John F. Engelhardt & Brad A. Amendt. (2005) PITX2, β-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter . Journal of Cell Science 118:6, pages 1129-1137.
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A Richter-Unruh, E Korsch, O Hiort, P M Holterhus, A P Themmen & S A Wudy. (2005) Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. European Journal of Endocrinology 152:2, pages 255-259.
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