cataract/phosphatase

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

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Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia

Ultrastructure and acid phosphatase activity in hereditary cataracts of deer mice.

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Lenses of cataract-webbed (cw) Peromyscus maniculatus were examined by electron microscopy and compared to age-matched normal deer mouse lenses. Precataractous lenses of offspring of cw/cw matings were examined and compared to early cataract development in the opposite eye of the same animal. The

Human aqueous humor phosphatase activity in cataract and glaucoma.

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OBJECTIVE To investigate the presence and activity of protein phosphatase-2A (PPase2A), protein phosphatase-2C (PPase2C), and protein tyrosine phosphatases (PTPs) in the human aqueous humor (AH) of patients with primary open-angle glaucoma (POAG) and cataract and to study the correlation between

Ultrastructural and acid phosphatase histochemical analysis of developmental lens abnormalities in rats with X-ray-induced cataract mutation.

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Lenses from normal Wistar rats and those from a Wistar strain with X-ray-induced cataract mutation were examined electron microscopically for morphological characterization and acid phosphatase (AcPase) localization. Ocular anlages of 11 through 18 days of gestation were included in the study. A

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

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Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies; refs. 1-3). We previously localized the gene associated with CCFDN to 18qter, where a conserved haplotype

Lens epithelium and radiation cataract. V. Observations on acid phosphatase and meridional row nuclear fragmentation.

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The influence of X-radiation on acid phosphatase activity in differentiating meridional row cells of rat lens epithelia was examined by ultrastructural cytochemistry. X-ray doses of 10-12 Gy (1000-1200 rads) produced clearly observable nuclear and cytoplasmic damage at 13-19 hr postirradiation. In

Cataracts in the aging rat lens. Morphology and acid phosphatase histochemistry of incipient forms.

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Acid phosphatase and lipid peroxidation in human cataractous lens epithelium.

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The anterior lens epithelial cells undergo a variety of degenerative and proliferative changes during cataract formation. Acid phosphatase is primarily responsible for tissue regeneration and tissue repair. The lipid hydroperoxides that are obtained by lipid peroxidation of polysaturated or

Some plasma constituents correlate with human cataract location and nuclear colour.

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OBJECTIVE To look for differences in levels of various plasma constituents between pair-matched controls and patients who had cataracts classified by location and appearance of lens opacity and nuclear colour in order to identify systemic risk factors. METHODS One thousand patients were taken from

Nutrition and cataract in low-income Mexicans: experience in an Eye camp.

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Surgical Eye-camps for cataract treatment of low-income adult Mexicans have been undertaken over the last 10 years. Despite the high prevalence of cataracts among these subjects, no assessment of their nutritional or health status has ever been made. We compare the results obtained for 81 adults (44

Acid phosphatase II. Cytochemical localization in lenses of normal and galactose-fed rats.

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Previous cytochemical and biochemical studies have shown an increase in the activity of acid phosphatase and arylsulfatase during the induction of galactose cataracts in rat lenses. It was postulated that these enzymes may be involved in lens fiber degradation observed during cataractogenesis,

AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development.

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Mutations in the human phosphatase and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract development among its diverse clinical pathologies. Currently, it is not known whether cataract formation in PHTS patients is secondary to other systemic problems, or

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

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BACKGROUND Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized

Anterior polar cataract and lysosomal alterations in the lens of rats treated with the amphiphilic lipidosis-inducing drugs chloroquine and chlorphentermine.

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Chronic treatment of rats with the amphipilic drugs chloroquine and chlorphentermine caused prominent anterior polar cataracts in virtually all rats. The basic pathologic changes underlying these cataracts were: (a) degeneration of anterior polar and sutural endings of cortical lens cells and (b)

[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].

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The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex

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