Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

Author's response to reviews Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger Title: syndrome

The 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...

Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-Rieger- Syndrome

Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-RiegerSyndrome. Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Maurice Menasche, Jean-Louis Dufier 1,3 & Marc Abitbol * 1 Centre de Recherche Thérapeutique en Ophtalmologie, EA n°2502, Facul...

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...

A 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...