Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs
نویسندگان
چکیده
منابع مشابه
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
PURPOSE Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder affecting development of the ocular anterior chamber, abdomen, teeth and facial structures. The PITX2 gene is a major gene encoding a major transcription factor associated with ARS. METHODS ARS patients were collected from six unrelated families. Patients and their families were ophthalmologically phenotyped an...
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Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and the genetic components underpinning CHD in an overwhelming majority of patients remain unclear. In...
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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...
متن کاملThe molecular mechanisms of PITX2 in tooth development and enamel defects in Axenfeld-Rieger Syndrome
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 کاملA novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome
PURPOSE Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS. METHODS Two generations of the family with AR...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2016
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2016.06.010