Author's response to reviews Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger Title: syndrome
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Current molecular understanding of Axenfeld-Rieger syndrome.
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 r...
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 کاملpitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish
Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better underst...
متن کاملAxial level-specific regulation of neuronal development: lessons from PITX2.
Transcriptional regulation of gene expression is vital for proper control of proliferation, migration, differentiation, and survival of developing neurons. Pitx2 encodes a homeodomain transcription factor that is highly expressed in the developing and adult mammalian brain. In humans, mutations in PITX2 result in Rieger syndrome, characterized by defects in the development of the eyes, umbilicu...
متن کاملNovel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 m...
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