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1.
Lai CM Yu MJ Brankov M Barnett NL Zhou X Redmond TM Narfstrom K Rakoczy PE 《Genetic vaccines and therapy》2004,2(1):3
Background
Leber's congenital amaurosis (LCA) is a severe form of retinal dystrophy. Mutations in the RPE65 gene, which is abundantly expressed in retinal pigment epithelial (RPE) cells, account for approximately 10–15% of LCA cases. In this study we used the high turnover, and rapid breeding and maturation time of the Rpe65 -/- knockout mice to assess the efficacy of using rAAV-mediated gene therapy to replace the disrupted RPE65 gene. The potential for rAAV-mediated gene treatment of LCA was then analyzed by determining the pattern of RPE65 expression, the physiological and histological effects that it produced, and any improvement in visual function. 相似文献2.
In this study, 12 months old female Swiss albino rats were used. They were randomly divided into four groups. The animals
of group I were fed with pellet chow. Group II were fed with pellet chow and treated with 250 μg/kg CrCl3.6H2o and 100 mg/kg niacinfor 45 days. Group III were fed a lipogenic diet consisting of 2% cholesterol, 0.5% cholicacidand 2%sun
flower oil added to the pellet chow, andgiven 3%alcoholic water for 60 days. Group IV were fed with the same lipogeni cdiet
for 60 day sand treated by gavage technique to rats at a dose of 250 mu/kg CrCl3.6H2O and 100 mg/kg niacin for 45 days, 15 days after experimental animals were rendered hyperlipidemic. At the 60th day, renal
tissue and blood samples were taken from the animals. The sections were examined under light and electron microscopy. The
degenerative changes were much more in the hyperlipidemic rats than the control group. The changes in renal tissue were also
observed in hyperlipidemic animals given niacin and chromium. In the hyperlipidemic rats, renal glutathione levels decreased
and renal lipid peroxidation levels, and serum urea and creatinine levels were increased. But, renal glutathione levels increased
and lipid peroxidation levels and serum urea and creatinine levels decreased in hyperlipidemic rats given niacin and chromium.
The purpose of this study was to investigate whether a protective effect of a combination of niacin and chromium is present
on the renal tissue of hyperlipidemic rats or not. In conclusion, we can say that niacin and chromium do not have a protective
effect on the morphology of the renal tissue of hyperlipidemic rats, except a protective effect on their biochemical parameters. 相似文献
3.
Kapetanovic MC Lindqvist E Algulin J Jonsson K Saxne T Eberhardt K Geborek P 《Arthritis research & therapy》2011,13(1):R31
Introduction
Changes in bone mineral density (BMD) in the hand as evaluated by digital X-ray radiogrammetry (DXR) of the second to fourth metacarpal bones has been suggested to predict future joint damage in patients with rheumatoid arthritis (RA). This study's objective was to investigate whether DXR-BMD loss early in the course of the disease predicts the development of joint damage in RA patients followed for up to 20 years. 相似文献4.
Meliha Sengezer Inceli Engin Kaptan Serap Sancar Osman Murathanoglu Songul Suren Castillo 《Biologia》2010,65(1):157-163
The dorsal and ventral skin in amphibians plays an important role in osmoregulation. Prolactin hormone is involved in regulation
of amphibian skin functions, such as water and electrolyte balance. Therefore, amphibians may be useful as a model for determining
the sites of the prolactin receptor. In this study, prolactin receptor was detected in frog dorsal and ventral skin using
immunohistochemical staining method. Prolactin receptor immunoreactivity was localized in all epidermal layers except stratum
corneum of dorsal skin epidermis, stratum germinativum layer of ventral skin epidermis, myoepithelial cells, secretory epithelium
and secretory channel cells of granular glands in both skin regions. The mucous glands and secretory granules of granular
glands did not show immunoreactivity for the prolactin receptor. According to our immunohistochemical results, the more widespread
detection of prolactin receptor in dorsal skin epidermis indicates that prolactin is more effective in dorsal skin. Presence
of prolactin receptors in epidermis points out its possible osmoregulatory effect. Moreover, detection of receptor immunoreactivity
in various elements of poison glands in the dermis of both dorsal and ventral skin regions suggests that prolactin has a regulatory
effect in gland functions. 相似文献
5.
Meliha Karsak Ida Malkin Mohammad R. Toliat Christian Kubisch Andreas Zimmer Gregory Livshits 《Human genetics》2009,126(5):629-636
Genetic variants within the CNR2 gene encoding the cannabinoid receptor CB2 have been shown to be associated with osteoporosis and low bone mineral density
(BMD) in case-control studies. We now examined the association of polymorphisms in CNR2 with hand bone strength in an ethnically homogeneous healthy family sample of European origin (Chuvashians) living in Russia.
We show that non-synonymous CNR2 SNPs are significantly associated with radiographic hand BMD and breaking bending resistance index (BBRI) by two different
transmission disequilibrium tests. For both tests highly significant p values (ranging from 0.007 to 0.008 for hand BMD, and from 0.001 to 0.003 for BBRI) were also obtained with additional SNPs
at the CNR2 locus. The associations remained significant after correction for multiple testing. In conclusion, in addition to the association
of CNR2 polymorphisms with low BMD at selected clinically relevant skeletal sites, we now report their significant association with
hand bone strength phenotypes using a family-based study design implying an even broader impact of genetic variation at the
CNR2 locus on bone structure and function. 相似文献
6.
The regulation of vascular endothelial growth factor (VEGF), a potent stimulator of angiogenesis, is controlled primarily through the interactions of control elements located within the 5'- and 3'-untranslated regions, many of which are yet to be described. In this study we examined the 5'-untranslated region of human VEGF for control elements with the aim of regulating expression both in vitro and in vivo using oligonucleotide gene therapy. A potential control element was located, two sense oligonucleotides (S(1) and S(2)) were designed based on its sequence, and a third oligonucleotide (S(3)) was designed as a control and mapped to the 16 base pairs immediately upstream. Retinal cells cultured in the presence of S(1) and S(2) resulted in a 2-fold increase of VEGF protein and a 1.5-fold increase in mRNA 24 h post-transfection whereas S(3) had no significant effect (p > 0.05) compared with controls. Subsequent reporter gene studies confirmed the necessity of this element for up-regulation by S(1). Further in vivo studies showed that S(1) and S(2) mediated an increase in VEGF protein in a rodent ocular model that resulted in angiogenesis. In addition to providing insight into the regulation of the vascular endothelial growth factor, the use of these oligonucleotides to stimulate vascular growth may prove useful for the treatment of ischemic tissues such as those found in the heart following infarct. 相似文献
7.
F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation 总被引:14,自引:0,他引:14
Hu QD Ang BT Karsak M Hu WP Cui XY Duka T Takeda Y Chia W Sankar N Ng YK Ling EA Maciag T Small D Trifonova R Kopan R Okano H Nakafuku M Chiba S Hirai H Aster JC Schachner M Pallen CJ Watanabe K Xiao ZC 《Cell》2003,115(2):163-175
Axon-derived molecules are temporally and spatially required as positive or negative signals to coordinate oligodendrocyte differentiation. Increasing evidence suggests that, in addition to the inhibitory Jagged1/Notch1 signaling cascade, other pathways act via Notch to mediate oligodendrocyte differentiation. The GPI-linked neural cell recognition molecule F3/contactin is clustered during development at the paranodal region, a vital site for axoglial interaction. Here, we show that F3/contactin acts as a functional ligand of Notch. This trans-extracellular interaction triggers gamma-secretase-dependent nuclear translocation of the Notch intracellular domain. F3/Notch signaling promotes oligodendrocyte precursor cell differentiation and upregulates the myelin-related protein MAG in OLN-93 cells. This can be blocked by dominant negative Notch1, Notch2, and two Deltex1 mutants lacking the RING-H2 finger motif, but not by dominant-negative RBP-J or Hes1 antisense oligonucleotides. Expression of constitutively active Notch1 or Notch2 does not upregulate MAG. Thus, F3/contactin specifically initiates a Notch/Deltex1 signaling pathway that promotes oligodendrocyte maturation and myelination. 相似文献
8.
We determined the allele and genotype frequencies of three PCR-based gene polymorphisms factor XIII (FXIII) Val34Leu, glycoprotein (GP) Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) in the Turkish population (n = 126 for FXIII Val34Leu, n = 110 for GPIbalpha Kozak and n = 203 for PSGL-1). To detect these polymorphisms, DNA was extracted from venous blood. Genomic DNA samples were replicated and analysed by a polymerase chain reaction (PCR) method. PCR products were digested by restriction endonuclease enzymes for FXIII Val34Leu and GPIbalpha Kozak. PSGL-1 was analysed by variable number of tandem repeats (VNTR). Allele frequencies of V (Val) and L (Leu) were found to be 0.805 and 0.195 respectively for the FXIII Val34Leu polymorphism. No significant difference was observed between French and Turkish populations for FXIII Val34Leu. Allele frequencies of T and C were calculated to be 0.873 and 0.127 for the GPIbalpha Kozak polymorphism and no significant difference was found between Turkish and French populations. In contrast, the difference between Turkish and Japanese populations was statistically significant (p<0.0001). In the PSGL-1 group, allele frequencies of A, B and C were calculated as 0.818, 0.160, 0.022 respectively. For the PSGL-1, although the difference between Turkish and French populations was not significant, the difference between the Turkish and Japanese was extremely significant (p<0.0001). In conclusion, a Turkish population database has been established for three gene polymorphisms. 相似文献
9.
10.
Meliha C Kapetanovic Lars-Erik Kristensen Tore Saxne Teodora Aktas Andreas M?rner Pierre Geborek 《Arthritis research & therapy》2014,16(1):R2