Skip to main content
×
Home
    • Aa
    • Aa
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 27
  • Cited by
    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    de Vos, Ivo J. H. M. Stegmann, Alexander P. A. Webers, Carroll A. B. and Stumpel, Constance T. R. M. 2016. The 6p25 deletion syndrome: An update on a rare neurocristopathy. Ophthalmic Genetics, p. 1.


    Mikhailov, Alexander T. and Torrado, Mario 2016. Myocardial transcription factors in diastolic dysfunction: clues for model systems and disease. Heart Failure Reviews,


    Guerin, Andrea So, Joyce Mireskandari, Kamiar Jougeh-Doust, Soghra Chisholm, Caitlin Klatt, Regan and Richer, Julie 2015. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child withPTPN11mutation. American Journal of Medical Genetics Part A, Vol. 167, Issue. 2, p. 403.


    Wiggs, Janey L. 2015. Molecular Biology of Eye Disease.


    Titheradge, Hannah Togneri, Fiona McMullan, Dominic Brueton, Louise Lim, Derek and Williams, Denise 2014. Axenfeld-Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. American Journal of Medical Genetics Part A, Vol. 164, Issue. 7, p. 1695.


    Gripp, Karen W. Hopkins, Elizabeth Jenny, Kim Thacker, Deepika and Salvin, Jonathan 2013. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novelFOXC1mutation. American Journal of Medical Genetics Part A, Vol. 161, Issue. 1, p. 114.


    Lee, Wing-Kee Chakraborty, Prabir K. and Thévenod, Frank 2013. Pituitary homeobox 2 (PITX2) protects renal cancer cell lines against doxorubicin toxicity by transcriptional activation of the multidrug transporter ABCB1. International Journal of Cancer, Vol. 133, Issue. 3, p. 556.


    Matsui, Toshiyasu Hongo, Yu Haizuka, Yoshinori Kaida, Kenichi Matsumura, George Martin, Donna M. and Kobayashi, Yasushi 2013. C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation. Neuroscience Letters, Vol. 548, p. 137.


    Swamynathan, Shivalingappa K. 2013. Ocular Surface Development and Gene Expression. Journal of Ophthalmology, Vol. 2013, p. 1.


    Wiggs, Janey L. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics.


    Abdalla, Ebtesam Mohamed and Nabil, Karim Mahmoud 2012. Axenfeld-Rieger Spectrum in a Patient with 45,X Turner Syndrome. Ophthalmic Genetics, Vol. 33, Issue. 2, p. 111.


    Reis, Linda M Tyler, Rebecca C Volkmann Kloss, Bethany A Schilter, Kala F Levin, Alex V Lowry, R Brian Zwijnenburg, Petra J G Stroh, Eliza Broeckel, Ulrich Murray, Jeffrey C and Semina, Elena V 2012. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. European Journal of Human Genetics, Vol. 20, Issue. 12, p. 1224.


    2012. Dento/Oro/Craniofacial Anomalies and Genetics.


    Bibliowicz, Jonathan Tittle, Rachel K. and Gross, Jeffrey M. 2011. Animal Models of Human Disease.


    Kaltenbrun, Erin Tandon, Panna Amin, Nirav M. Waldron, Lauren Showell, Chris and Conlon, Frank L. 2011. Xenopus: An emerging model for studying congenital heart disease. Birth Defects Research Part A: Clinical and Molecular Teratology, Vol. 91, Issue. 6, p. 495.


    Kenchegowda, Doreswamy Swamynathan, Sudha Gupta, Divya Wan, Huajing Whitsett, Jeffrey and Swamynathan, Shivalingappa K. 2011. Conditional disruption of mouse Klf5 results in defective eyelids with malformed meibomian glands, abnormal cornea and loss of conjunctival goblet cells. Developmental Biology, Vol. 356, Issue. 1, p. 5.


    Zhou, Yuefang Liu, Dan and Kaminski, Henry J 2011. Pitx2 regulates myosin heavy chain isoform expression and multi-innervation in extraocular muscle. The Journal of Physiology, Vol. 589, Issue. 18, p. 4601.


    Akkus, Mehmet Necdet and Argin, Atilla 2010. Congenital heart defects in two siblings in an Axenfeld–Rieger syndrome family. Clinical Dysmorphology, Vol. 19, Issue. 2, p. 56.


    Cao, Huojun Florez, Sergio Amen, Melanie Huynh, Tuong Skobe, Ziedonis Baldini, Antonio and Amendt, Brad A. 2010. Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21. Developmental Biology, Vol. 347, Issue. 2, p. 289.


    Fan, Bao Jian and Wiggs, Janey L. 2010. Glaucoma: genes, phenotypes, and new directions for therapy. Journal of Clinical Investigation, Vol. 120, Issue. 9, p. 3064.


    ×

Current molecular understanding of Axenfeld–Rieger syndrome

  • Tord A. Hjalt (a1) and Elena V. Semina (a2)
  • DOI: http://dx.doi.org/10.1017/S1462399405010082
  • Published online: 01 November 2005
Abstract

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma represents the main challenge in terms of treatment. Mutations in several chromosomal loci have been implicated in ARS, including PITX2, FOXC1 and PAX6. Full-spectrum ARS is caused primarily by mutations in the PITX2 gene. The homeobox transcription factor PITX2 is produced as at least four different transcriptional and splicing isoforms, with different biological properties. Intriguingly, PITX2 is also involved in left–right polarity determination, although asymmetry defects are not a feature of ARS. In experimental animal models and in cell culture experiments using PITX2, abundant evidence indicates that a narrow window of expression level of this gene is vital for its correct function.

Copyright
Corresponding author
Lund University, Department of Experimental Medical Research, BMC B12, Tornavägen 10, SE-22184 Lund, Sweden. Tel: +46 462220814; Fax: +46 462220855; E-mail: tord.hjalt@med.lu.se
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Expert Reviews in Molecular Medicine
  • ISSN: -
  • EISSN: 1462-3994
  • URL: /core/journals/expert-reviews-in-molecular-medicine
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Keywords: