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81.
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy 总被引:3,自引:0,他引:3
Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM 《Human molecular genetics》1998,7(7):1179-1184
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to
within an 8 cM interval on chromosome 17p12-p13. The retinal- specific
guanylate cyclase gene (RETGC-1), which maps to within this genetic
interval and previously was implicated in Leber's congenital amaurosis, was
screened for mutations within this family and in a panel of small families
and individuals with various cone and cone- rod dystrophy phenotypes. A
missense mutation (E837D) was identified in affected members of the CORD6
family, as well as a second missense mutation (R838C) in three other
families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene
to be implicated in cone-rod dystrophy and this is the first report of
dominant mutations in this gene.
相似文献
82.
Renal oxalosis and azotemia after methoxyflurane anesthesia 总被引:4,自引:0,他引:4
83.
G. Chadi A. M?er L. Rosen A. M. Janson L. A. Agnati M. Goldstein S.-O. ?gren R. F. Pettersson K. Fuxe 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1993,97(1):145-158
Basic fibroblast growth factor (bFGF, FGF-2) is a trophic factor for neurons and astrocytes and has recently been demonstrated in the vast majority of dopamine (DA) neurons of the ventral midbrain of the rat. Potential neuroprotective actions of FGF-2 in the l-methyl-4-phenyl-l,2,3,6-tetrahydropyridine (MPTP) model have also been reported. The actions of the FGF-2 have now been further analyzed in a combined morphological and behavioural analysis in the MPTP model of the adult black mouse, using a continuous human recombinant FGF-2 (hrFGF-2) intraventricular (i.v.t.) administration in a heparin-containing (10 IU heparin/ml) mock cerebrospinal fluid (CSF) solution. Tyrosine hydroxylase (TH) immunocytochemistry in combination with computer assisted microdensitometry demonstrated a counteraction of the MPTP-induced disappearance of neostriatal TH-immunoreactive (ir) nerve terminals following the FGF-2 treatment. Unbiased estimates of the total number of nigral TH ir neurons, using stereological methods involving the optical disector (Olympus), showed that the MPTP-induced reduction in the number of nigral TH ir nerve cell bodies counterstained with cresyl violet (CV; by 56%) was partially counteracted by the FGF-2 treatment (by 26%). The behavioral analysis demonstrated an almost full recovery of the MPTP-induced reduction of the locomotor activity after FGF-2 treatment. This action was maintained also 1 week after cessation of treatment. The hrFGF-2 produced an astroglial reaction as determined in the lateral neostriatum and in the substantia nigra (SN) far from the site of the infusion, indicating that the growth factor may have reached these regions by diffusion to activate the astroglia. Immunocytochemistry revealed FGF-2 immunoreactivity (IR) in the nuclei of the astroglia cell population in the dorsomedial striatum and the microdensitometric and morphometric evaluation demonstrated an increase in the number, but not in the intensity, of these profiles on the cannulated side, suggesting the possibility that hrFGF-2 stimulates FGF-2 synthesis in astroglial cells with low endogenous FGF-2 IR. These results indicate that hrFGF-2, directly and/or indirectly via astroglia, upon i.v.t. infusion exerts trophic effects on the nigrostriatal DA system and may increase survival of nigrostriatal DA nerve cells exposed to the MPTP neurotoxin. 相似文献
84.
Infections with certain types of papillomaviruses, e.g., human papillomavirus type 16 (HPV-16), often progress to cancer. Malignant lesions associated with the closely related HPV-11 are extremely rare. Additionally, HPV-11 DNA, unlike HPV-16, does not normally transform cells in vitro. We determined that HPV-11 DNA was able to transform baby rat kidney cells in a ras-dependent focus assay when the upstream regulatory region (URR) was present in two copies. Addition of a second HPV-11 URR or an HPV-16 URR was equally effective and was position and orientation independent. The transformation was enhanced by dexamethasone. On passage the HPV-11 genome was not retained at a detectable level. This analysis supports isolated observations in vivo that duplications of regulatory sequences in HPV-11 increase the transformation potential of this virus type. 相似文献
85.
Mapping of IgG subclass and T-cell epitopes on HIV proteins by synthetic peptides 总被引:4,自引:0,他引:4 下载免费PDF全文
Fifteen amino acid peptides, sequentially overlapping by 10 amino acids, were synthesized on the basis of the HTLV-III sequences of the gag and env proteins. They were used as antigens in IgG subclass ELISAs and T-cell stimulation assays. Sera and cells were obtained from 30 asymptomatic, HIV-infected homosexuals. In all subclasses reactivity was found to parts of the gag protein, while IgG1 dominated anti-env peptide responses. It was possible to delineate peptides showing restricted IgG subclass responses that were dominated by either IgG1, 2, 3 or 4. A negative correlation was generally observed between B-cell and T-cell reactivity, but a T-cell and B-cell co-operation was suggested by the response to two IgG1-restricted peptides. The IgG3-dominated epitopes were present in peptides previously known to be amphipathic and capable of T-cell stimulation. The analysis of subclass-restricted responses on the peptide level will assist the understanding of the subclass expression in vivo, since the peptide mapping approximates the delineation of a subclass-restricted response at the level of single epitopes. 相似文献
86.
Pulmonary vasculitis--an uncommon complication of ulcerative colitis. Report of a case 总被引:3,自引:0,他引:3
J I Isenberg H Goldstein A R Korn R S Ozeran V Rosen 《The New England journal of medicine》1968,279(25):1376-1377
87.
Simultaneous turnover of normal and dysfunctional C1 inhibitor as a probe of in vivo activation of C1 and contact activatable proteases. 总被引:2,自引:0,他引:2 下载免费PDF全文
P Woo P J Lachmann R A Harrison N Amos C Cooper F S Rosen 《Clinical and experimental immunology》1985,61(1):1-8
Simultaneous turnover of normal and dysfunctional C1-inhibitor (C1-INH) was carried out in 10 normal subjects and 13 patients with rheumatoid arthritis as a measure of the in vivo activation of C1 and the contact activatable enzymes. In the first series of experiments, dysfunctional protein We was used in simultaneous turnover studies in five normal subjects and nine patients. The fractional catabolic rate of the dysfunctional C1-INH, We, (FCR(d)) was unchanged in both groups but the fractional catabolic rate of the normal C1-INH (FCR(n)) was faster in the patients compared to the controls, in particular patients with vasculitis. The enzyme-dependent catabolism defined as FCR(n-d) X concentration of C1-INH X plasma volume, was raised in the patient group, and correlated with disease activity score (r = 0.83, P less than 0.05). Neither FCR(n) nor FCR(d) was dependent on C1-INH concentration. The latter was higher in the patients (206 mg/l compared with 155 mg/l) indicating a very high synthetic rate in the patients (280.81 micrograms/kg/h compared with 179.77 micrograms/kg). In the second series of turnovers in six patients and five normal subjects, another dysfunctional C1-INH, at, was used. The FCR of C1-INH was slower than C1-INH (We) (1.88%/h compared with 2.7%/h). Enzyme-dependent catabolism of C1-INH in these patients were raised and also correlated with disease activity score (r = 0.82, P less than 0.05). 相似文献
88.
Long term variation in beam symmetry as a function of gantry angle for a computer-controlled linear accelerator 总被引:2,自引:0,他引:2
Testing computer-controlled linear accelerators for patient safety and proper patient dose delivery requires that certain beam characteristics be monitored over an extended period of time. Computer-controlled conformal radiation therapy using asymmetric collimator jaw settings necessitates stable symmetric treatment beams. Long term beam symmetry measurements have been performed on a Philips SL20 dual energy computer-controlled linear accelerator. Symmetry in both the radial and transverse axis of each x-ray beam was monitored for eight gantry positions. These measurements were undertaken to determine the effectiveness of the SL20 beam steering system during dose delivery of 50 monitor units (MU) per field. Evaluation of the data shows that careful beam steering setup procedures result in x-ray beams in which fluctuations in symmetry as a function of gantry angle are within +/- 1.5%. Day to day instabilities produce a total overall variation in beam symmetry on the order of +/- 2.0%. Results suggest the measurement of symmetry as a function of gantry position become a routine quality assurance procedure for this accelerator. 相似文献
89.
Meiotic progeny of Chlamydomonas reinhardtii normally receive chloroplast genomes only from the mt+ parent. However, exceptional zygotes, which transmit the chloroplast genomes of both parents or, more rarely, only those of the mt- parent, arise at a low frequency. Mutations at the mt(+)-linked mat-3 locus were found previously to elevate the transmission of chloroplast genomes from the mt- parent, resulting in a much higher than normal frequency of exceptional zygotes. In this paper we demonstrate that an ultraviolet-sensitive nuclear mutation mapping at the uvsE1 locus, which is unlinked to mating type, also promotes chloroplast genome transmission from the mt- parent. This mutant, which was previously shown to reduce recombination of nuclear genes in meiosis, acts synergistically with the mat-3-3 mutation to produce an extremely high frequency of exceptional zygotes. Through the use of restriction fragment length polymorphisms existing in the chloroplast genomes of C. reinhardtii and the interfertile strain C. smithii, we show that chloroplast DNA fragments from the mt- parent normally begin to disappear shortly after zygote formation. However, this process appears to be blocked totally in the absence of wild-type uvsE1 and mat-3 gene products. Our findings are consistent with the hypothesis that both gene products contribute to the mechanism responsible for uniparental inheritance of the chloroplast genome from the mt+ parent. 相似文献
90.