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3 beta galactosidase/atrofi

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Sayfa 1 itibaren 387 Sonuçlar

Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

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Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness
OBJECTIVE Retinal degenerations are a leading cause of blindness for which there are currently no effective treatments. This has stimulated interest in the investigation of gene therapy strategies for these diseases in a variety of animal models. A number of attempts have been made to prevent
METHODS Human intervertebral disc anulus tissue was obtained in a prospective study of cell senescence. Localization of the senescence biomarker beta-galactosidase (senescence associated beta-galactosidase, SA-beta-gal) was used for quantitative determination of the % senescent cells. Discs were

Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.

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This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver

Benign nano-assemblages of silver induced by β galactosidase with augmented antimicrobial and industrial dye degeneration potential.

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The fabrication of nanoparticles (NPs) has been a wide realm of studies focusing majorly on their dispersion and stabilization. The use of biological components as reducing agents has led to emergence of environment-friendly and cost-effective approaches of synthesis. The primary aim was

VO-OHpic attenuates intervertebral disc degeneration via PTEN/Akt pathway.

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Intervertebral disc degeneration (IVDD) is mainly associated with a chronic process of the nucleus pulposus (NP) cells disabled. Also, it is accepted to be the basic result of low back pain. The role of phosphatase and tensin homolog (PTEN) in negatively regulating the Akt/PKB

Mapping retinal degeneration and loss-of-function in Rd-FTL mice.

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OBJECTIVE Retinitis pigmentosa (RP) is a blinding disease caused by the degeneration of photoreceptors. To further understand the process of degeneration in RP, the authors have traced activation patterns associated with rod and cone photoreceptor degeneration in a mouse model of RP METHODS: The
OBJECTIVE The aim of this study was to investigate whether repopulating the degenerating intervertebral disk (IVD) with articular chondrocytes will decrease inflammation in the degenerating rabbit IVD. METHODS This was a biologic study in a rabbit IVD-injury model in vivo. Dual cell tracking methods

Interleukin-1beta promotes gastric atrophy through suppression of Sonic Hedgehog.

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OBJECTIVE In both human subjects and rodent models, Helicobacter infection leads to a decrease in Shh expression in the stomach. Sonic Hedgehog (Shh) is highly expressed in the gastric corpus and its loss correlates with gastric atrophy. Therefore, we tested the hypothesis that proinflammatory

Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

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A lambda gt11 human testicular cDNA library was screened with degenerate oligonucleotide probe mixtures based on amino acid sequence data generated from cyanogen bromide fragments and tryptic fragments of purified human beta-galactosidase. Six positive clones were identified after screening 2 x

beta-Galactosidase transgene expression in transplanted rabbit retinal pigment epithelial cells in vivo.

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BACKGROUND Intraocular transplantation of genetically modified cells that release a particular substance could have a major impact on the treatment of various ocular diseases. We studied the expression of the reporter gene beta-galactosidase (lacZ) in transplanted retinal pigment epithelial (RPE)

Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency.

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A juvenile Siamese cat with severe, progressive motor disability was shown to have extensive neuronal degeneration caused by accumulation of GM(1) ganglioside. Tissues from brain and kidney were markedly deficient in beta-galactosidase activity. The disease in this cat is thought to be inherited as
To examine the effects of multiple stressors on the onset and specificity of a neurodegenerative disease, we derived mnd/mnd mice expressing a neurofilament-H/lacZ transgene. The mnd mutation causes adult-onset motor dysfunction, and produces abnormal ubiquitous accumulation of autofluorescent
Altered expression of the PMP22 gene causes Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). We have examined the promoter activity of 8.5 kb upstream of the first coding exon of the rat peripheral myelin protein-22 (rPmp22) gene in
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