retinal degeneration/proline

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Disease of the ornithine-proline pathway: delta 1-pyrroline-5-carboxylate reductase deficiency in the retina of retinal degeneration mice.

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In bovine ocular tissues, cornea and retina-including choroid provide the intracellular proline synthetic pathway from ornithine, but not from glutamate. In C3H retinal degeneration mice, P5C reductase activity in the retina and choroid was decreased to about one-third that of CRJ control mice in

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.

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Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

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BACKGROUND Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. The authors studied the clinical features in members of two families with autosomal dominant

Disease of ornithine-proline pathway: a delta 1-pyrroline-5-carboxylate reductase deficiency in the retina or retinal degeneration mice.

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Retinal remodeling in the Tg P347L rabbit, a large-eye model of retinal degeneration.

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Retinitis pigmentosa (RP) is an inherited blinding disease characterized by progressive loss of retinal photoreceptors. There are numerous rodent models of retinal degeneration, but most are poor platforms for interventions that will translate into clinical practice. The rabbit possesses a number of

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

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BACKGROUND Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal

Aqueous humour and plasma amino acids in tapeto-retinal degenerations.

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The concentration of 18 amino acids and related compounds has been determined in plasma and aqueous humour in 17 patients with tapeto-retinal degenerations, among them 10 patients with retinitis pigmentosa. When compared with a previously obtained reference series of 40 patients abnormal aqueous

Phenotypic characterization of P23H and S334ter rhodopsin transgenic rat models of inherited retinal degeneration.

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We produced 8 lines of transgenic (Tg) rats expressing one of two different rhodopsin mutations in albino Sprague-Dawley (SD) rats. Three lines were generated with a proline to histidine substitution at codon 23 (P23H), the most common autosomal dominant form of retinitis pigmentosa in the United

Proline mediates metabolic communication between retinal pigment epithelial cells and the retina.

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The retinal pigment epithelium (RPE) is a monolayer of pigmented cells between the choroid and the retina. RPE dysfunction underlies many retinal degenerative diseases, including age-related macular degeneration, the leading cause of age-related blindness. To perform its various functions in

IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.

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UNASSIGNED Mutations in the intraflagellar transport protein 52 homolog (IFT52) gene are reported to interrupt ciliary function and cause short-rib thoracic dysplasia (SRTD), a specific form of skeletal ciliopathy. However, the roles of these mutations in retinal ciliopathy are inexplicit. We herein

Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.

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OBJECTIVE The beta subunit of the rod cyclic nucleotide gated channel B1 (CNGB1) contains a proline/glutamic acid-rich N-terminal domain (GARP), which is also present in rods as a non-membrane-bound protein (GARP1/2). GARP2 and CNGB1 bind to retinal degeneration slow (RDS), which is present in the

A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats.

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The LEW/Ztm-ci2 rat is an animal model for syndromal deafness that arose from a spontaneous mutation. Homozygous animals show locomotor abnormalities like lateralized circling behavior. Additionally, an impaired vision can be observed in some animals through behavioral studies. Syndromal deafness as

[The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa].

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OBJECTIVE To investigate retinal degeneration slow (RDS) gene mutation in a Chinese family with primary retinitis pigmentosa (RP) and the association of the mutation with clinical phenotypes and to explore the pathogenesis of RP. METHODS Blood DNA from 2 patients in the same family with RP and 2

Visinin: biochemical and molecular comparisons in normal and rd chick retina.

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Western, northern and DNA sequence analyses were used to determine if the retinal protein, visinin, is defective in the chicken retinal degeneration mutant, rd. A 22kDa band, corresponding to purified visinin, was stained with equal intensity on Western blots of +/+, +/rd and rd/rd retinal protein

Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors.

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OBJECTIVE In this study, the authors present the biochemical, morphologic, and physiological analyses of a transgenic mouse model for retinal degeneration slow (RDS)-mediated retinitis pigmentosa caused by a proline 216 to leucine (P216L) amino acid substitution in rds/peripherin. METHODS The

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