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1

Forkhead genes and human disease

100%
Erickson R. P.
|
|
issue 2
211-221
EN
Forkhead, or Fox-box genes, code for winged helix transcription factors that make up a multi-gene family. Two human genetic diseases have recently been associated with loss of function of one allele of different Fox-box genes: Axenfeld-Rieger anomaly of the anterior eye chamber associated with haploinsufficiency of FOXC1 and lymphedema-distichiasis associated with haploinsufficiency of FOXC2. Earlier, both genes had been studied intensively for their transcription patterns and for the phenotypes of knockouts. These studies are reviewed and related to the phenotypes found in the two human disorders.
2

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

63%
Powis Z., Erickson R. P.
Journal of Applied Genetics
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2009
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vol. 50
|
issue 3
293-296
EN
Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.
3

Expression of Npc1 in Glial Cells Corrects Sterility in Npc1-/- mice

51%
Donohue C., Marion S., Erickson R. P.
Journal of Applied Genetics
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2009
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vol. 50
|
issue 4
385-390
EN
Niemann-Pick type C1 (NPC) disease is an autosomal recessive neurodegenerative disorder. One feature of the mouse model of NPC1 is it's infertility. We have made transgenic mice which express the Npc1 protein exclusively in fibrillary astrocytes, using the glial fibrillary acidic protein (GFAP) promoter. This selective expression of Npc1 corrects sterility in GFAP-Npc1E, Npc1-/- mice. Counts of acidophils in the pituitary of GFAP-Npc1E, Npc1-/- mice, as compared to Npc1-/- mice, and measurements of dopamine D2 receptor (DRD2) mRNA in the pituitary, suggest mechanisms for fertility enhancement. We conclude that the correction of sterility in GFAP-Npc1E, Npc1-/- mice is a result of restoring hypothalamic control of the pituitary.
4

DNA constructs designed to produce short hairpin, interfering RNAs in transgenic mice sometimes show early lethality and an interferon response

45%
Cao W., Hunter R., Strnatka D., McQueen C. A., Erickson R. P.
Journal of Applied Genetics
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2005
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vol. 46
|
issue 2
217-225
EN
Arylamine N-acetyltransferase (NAT) genes were targeted for inhibition using short hairpin RNA (shRNA) using two different RNA polymerase III promoters. Constructs were developed for NAT1 and NAT2, the endogenous mouse genes, and for human NAT1. There were fetal and neonatal deaths with these constructs, perhaps due in part to an interferon response as reflected in increases in oligoadenylate synthetase I mRNA levels. Seven out of 8 founders with the U6 promoter generated offspring but only 2 gave positive offspring. Out of 15 founders for H1 promoted constructs, only 4 had positive offspring. When transgenic lines were successfully established, the expression of the targeted genes was variable between animals and was not generally inhibitory.
5

Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C

33%
Bascunan-Castillo E. C., Erickson R. P., Howison C. M., Hunter R. J., Heidenreich R. H., Hicks C., Trouard T. P., Gillies R. J.
Journal of Applied Genetics
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2004
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vol. 45
|
issue 4
461-467
EN
Niemann-Pick C disease (NPC) is an irreversible neurodegenerative disorder without current treatment. It is the result of deficient intracellular cholesterol movement. We investigated the effects of tamoxifen and vitamin E (D-alpha tocopherol) treatment on patterns of weight loss and motor function in the mouse model of Niemann-Pick C disease (Npc1-/- mice). Tamoxifen has multiple metabolic effects, including reducing oxidative damage, while vitamin E primarily has this property. Npc1-/- mice were identified and treatment was initiated at an approximate age of 21 days. Tamoxifen suspended in peanut oil was administered via intraperitoneal injection (weekly, at a dose calculated to deliver 0.023 mug/g/day). Vitamin E (25 IU) was administered orally via gavage once a week. Weight loss and Rota-Rod performance were analyzed by using Kaplan-Meyer survival curves. Tamoxifen treatment by itself significantly delayed weight loss (an endpoint of neurodegeneration) in male and female mice compared to untreated controls. Motor function was evaluated by performance on a Rota-Rod. Tamoxifen maintained Rota-Rod performance for about an extra week. Vitamin E treatment significantly delayed weight loss in females only. Rota-Rod performance was maintained slightly longer in mice treated with vitamin E. Simultaneous use of both treatments did not delay weight loss longer than tamoxifen-only treatment but had a greater effect than either treatment alone on Rota-Rod performance and demonstrated a significant positive effect on the early ?learning curve' portion of the Rota-Rod evaluations. We found significant but relatively small improvements in rate of disease progression by treating Npc1-/- mice with tamoxifen and/or vitamin E. Some sex differences in response and an early improvement in Rota-Rod performance suggest areas for further study.
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