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Molecular genetics of Axenfeld-Rieger malformations.
Axenfeld-Rieger (AR) malformations are autosomal dominant developmental defects of the anterior segment of the eye, and often result in glaucomatous blindness. AR malformations are associated withExpand
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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous, partially because of its complex genetic background. Mutations inExpand
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Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be clearly defined. We provide here new insight into PITX2 pathogenesis through mutational and functionalExpand
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The protein phosphatase-1 targeting subunit TIMAP regulates LAMR1 phosphorylation.
TIMAP is a prenylated endothelial cell protein with a domain structure that predicts it to be a protein phosphatase-1 (PP-1) regulatory subunit. We found that TIMAP interacts with the 37/67 kDaExpand
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Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.
The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and Axenfeld-Rieger syndrome (ARS) are characterized by maldevelopment of the anterior segment of the eyeExpand
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Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
PURPOSE Mutations of the homeodomain protein PITX2 produce Axenfeld-Rieger (AR) malformations of the anterior chamber, an autosomal dominant disorder accompanied by a 50% risk of glaucoma.Expand
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CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity.
The chloride intracellular channel 5A (CLIC5A) protein, one of two isoforms produced by the CLIC5 gene, was isolated originally as part of a cytoskeletal protein complex containing ezrin fromExpand
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Phosphorylation of TIMAP by Glycogen Synthase Kinase-3β Activates Its Associated Protein Phosphatase 1*
TIMAP (TGF-β1 inhibited, membrane-associated protein) is a prenylated, endothelial cell-predominant protein phosphatase 1 (PP1c) regulatory subunit that localizes to the plasma membrane of filopodia.Expand
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Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.
PURPOSE To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region ofExpand
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Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocularExpand
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