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Current molecular understanding of Axenfeld-Rieger syndrome.
Expert Rev Mol Med. 2005 Nov 08; 7(25):1-17.ER

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.

Authors+Show Affiliations

Lund University, Department of Experimental Medical Research, BMC B12, Tornavägen 10, SE-22184 Lund, Sweden. tord.hjalt@med.lu.seNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

16274491

Citation

Hjalt, Tord A., and Elena V. Semina. "Current Molecular Understanding of Axenfeld-Rieger Syndrome." Expert Reviews in Molecular Medicine, vol. 7, no. 25, 2005, pp. 1-17.
Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005;7(25):1-17.
Hjalt, T. A., & Semina, E. V. (2005). Current molecular understanding of Axenfeld-Rieger syndrome. Expert Reviews in Molecular Medicine, 7(25), 1-17.
Hjalt TA, Semina EV. Current Molecular Understanding of Axenfeld-Rieger Syndrome. Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. PubMed PMID: 16274491.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Current molecular understanding of Axenfeld-Rieger syndrome. AU - Hjalt,Tord A, AU - Semina,Elena V, Y1 - 2005/11/08/ PY - 2005/11/9/pubmed PY - 2007/10/12/medline PY - 2005/11/9/entrez SP - 1 EP - 17 JF - Expert reviews in molecular medicine JO - Expert Rev Mol Med VL - 7 IS - 25 N2 - 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. SN - 1462-3994 UR - https://www.unboundmedicine.com/medline/citation/16274491/Current_molecular_understanding_of_Axenfeld_Rieger_syndrome_ L2 - https://www.cambridge.org/core/product/identifier/S1462399405010082/type/journal_article DB - PRIME DP - Unbound Medicine ER -