myopia/phosphatase

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[On the prognostic value of examining blood serum alkaline phosphatase activity in children with myopia].

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Form-deprivation myopia in chick induces limited changes in retinal gene expression.

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OBJECTIVE Evidence has implicated the retina as a principal controller of refractive development. In the present study, the retinal transcriptome was analyzed to identify alterations in gene expression and potential signaling pathways involved in form-deprivation myopia of the

In vivo and in vitro association of retinoic acid with form-deprivation myopia in the chick.

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The purpose of this study is to clarify the role of retinoic acid (RA) in the mechanism of form-deprivation myopia (FDM) in the chick. FDM was induced in two-day old chicks by placement of a translucent plastic goggle over one eye, with the contralateral eye used as a control. After 12 days, the

Two different genetic markers for high and low myopia.

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In myopia patients, Rh and acid phosphatase were typed in two groups: group 1 consisted of 214 patients with low myopia (-6 D or less); group 2 of 124 patients with high myopia (more than -6 D). Statistical analysis of the markers showed a good Hardy-Weinberg equilibrium for both groups. In the Rh

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

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OBJECTIVE Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, MYP3, has been reported on chromosome 12q21-23 by four independent linkage studies. METHODS We performed a genetic association study of

A genome-wide association study of corneal astigmatism: The CREAM Consortium.

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To identify genes and genetic markers associated with corneal astigmatism. A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

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Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

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Alpha 1 (XI) collagen (Col11a1) is essential for normal skeletal development. Mutations in Col11a1 cause Marshall and Stickler syndromes, both of which are characterized by craniofacial abnormalities, nearsightedness and hearing deficiencies. Despite its link to human diseases, few studies have

Lysosomal enzymes in tear fluids from patients with Terrien's marginal corneal degeneration.

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We examined biochemically the lysosomal enzyme activities in tear fluids from patients with mild myopia, senile cataract, and Terrien's marginal corneal degeneration. Tear acid phosphatase activities in Terrien's degeneration were almost the same as those in mild myopia and senile cataract, while

Progressive cone dystrophy associated with low alpha-L-fucosidase activity in serum and leukocytes.

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The enzyme activities of acid phosphatase, beta-glucuronidase, N-acetyl-beta-D-glucosaminidase, and alpha-D-mannosidase were not significantly different in patients with myopia, retinal detachment, hereditary macular dystrophy, and unusual progressive cone dystrophy. alpha-L-Fucosidase activity in

Lysosomal enzymes in the serum of patients with with Behçet's disease.

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Samples of serum from patients with ocular manifestation of Behçet's disease of various types were analyzed using acid phosphatase and beta-glucuronidase as lysosomal marker enzymes, in comparison to those from control patients with myopia, retinal detachment, and uveitis of unknown etiology. The

Lysosomal enzymes in tear fluids from patients with ocular diseases.

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Lysosomal enzyme activities in the tear fluids were determined in patients with ocular diseases. Acid phosphatase, beta-D-glucuronidase, N-acetyl-beta-D-glucosaminidase, and beta-D-mannosidase activities were almost the same among the tear fluids from patients with myopia, rhegmatogenous retinal

Fragile X Syndrome FMRP Co-localizes with Regulatory Targets PSD-95, GABA Receptors, CaMKIIα, and mGluR5 at Fiber Cell Membranes in the Eye Lens.

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Fmr1 and FMRP underlie Fragile X Syndrome (FXS) and are linked with related autism spectrum disorders (ASD). Fmr1 also has an essential role in eye and lens development. Lenses express FMRP along with γ-aminobutyric acid (GABA) receptors (GABARs), post-synaptic density protein 95 (PSD-95),

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