A Zebrafish Model of Axenfeld-Rieger Syndrome Reveals That pitx2 Regulation by Retinoic Acid Is Essential for Ocular and Craniofacial Development
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چکیده
منابع مشابه
A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.
PURPOSE The homeobox transcription factor PITX2 is a known regulator of mammalian ocular development, and human PITX2 mutations are associated with Axenfeld-Rieger syndrome (ARS). However, the treatment of patients with ARS remains mostly supportive and palliative. METHODS The authors used molecular genetic, pharmacologic, and embryologic techniques to study the biology of ARS in a zebrafish ...
متن کاملDental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation...
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Purpose The purpose of this analysis was to assess the utility of Pitx2+/- mice as a model for the ocular features of Axenfeld-Rieger Syndrome and for congenital glaucoma. Methods Eyes of Pitx2+/- and wild-type littermates were examined clinically using optical coherence tomography (OCT) and fundus photography. Intraocular pressures were measured using a TonoLab rebound tonometer. Eyes were e...
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The molecular mechanisms of PITX2 in tooth development and enamel defects in Axenfeld-Rieger Syndrome." PhD has been approved by the Examining Committee for the thesis requirement for the Doctor of Philosophy degree in Anatomy and Cell Biology at the December 2013 graduation. ii To my parents, Tianhua and Zhibin, for their endless love, support and encouragement. I would not have contemplated t...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
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ژورنال
عنوان ژورنال: Investigative Ophthalmology & Visual Science
سال: 2011
ISSN: 0146-0404
DOI: 10.1167/iovs.11-8494