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101.
A patient homozygous for the SCA6 gene with retinitis pigmentosa 总被引:1,自引:0,他引:1
The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed. 相似文献
102.
Lack of association between DNA base excision repair gene XRCC1 Gln399Arg polymorphism and risk of malignant lymphoma in Japan 总被引:2,自引:0,他引:2
Matsuo K Hamajima N Suzuki R Andoh M Nakamura S Seto M Morishimae Y Tajima K 《Cancer Genetics and Cytogenetics》2004,149(1):77-80
Growing evidence suggests that the polymorphism of DNA base excision repair gene XRCC1 Arg399Gln is associated with altered DNA repair proficiency and subsequent cancer susceptibility; however, no evidence is available for malignant lymphoma. We therefore conducted a case-control study (372 cases, 500 controls) to evaluate links with malignant lymphoma risk in Japan. The risk was evaluated in terms of odds ratio (OR) and 95% confidence interval (CI) adjusted for age and sex in an unconditional logistic regression model. There was no statistical risk change with the Arg/Gln (adjusted OR 0.89; 0.65-1.23, P = 0.492) or the Gln/Gln (0.57; 0.27-1.17, P = 0.127) compared with the Arg/Arg of the XRCC1 Arg399Gln polymorphism. The results were unchanged in analyses according to histological subtype (diffuse large lymphoma, follicular lymphoma, low-grade lymphoma of mucosa-associated lymphoid tissue, and others). These data suggest that XRCC1 Gln399Arg polymorphism plays a limited role in lymphomagenesis. Further study on the interaction between the polymorphism and environmental exposure is required. 相似文献
103.
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy 总被引:3,自引:0,他引:3
104.
Umeshita-Suyama R Sugimoto R Akaiwa M Arima K Yu B Wada M Kuwano M Nakajima K Hamasaki N Izuhara K 《International immunology》2000,12(11):1499-1509
IL-4 and IL-13 are pleiotropic cytokines whose biological activities overlap with each other. IL-13 receptor alpha chain 1 (IL-13R alpha 1) is necessary for binding to IL-13, and the heterodimer composed of IL-13R alpha 1 and IL-4R alpha chain transduces IL-13 and IL-4 signals; however, the functional mapping of the intracellular domain of IL-13R alpha 1 is not fully understood. In this study, we constructed wild and mutated types of human IL-13R alpha 1, and analyzed IL-4 and IL-13 signals using an IL-13R alpha 1-transfected human B cell line. Expression of IL-13R alpha 1 evoked STAT3 activation by IL-4 and IL-13, and in stimulated human B cells, on which IL-13R alpha 1 was highly expressed, IL-4 and IL-13 induced STAT3 activation. Replacement of the two tyrosine residues completely abolished STAT3 activation, although replacing either tyrosine residue alone retained it. Furthermore, we found that the Box1 region and the C-terminal tail of IL-13R alpha 1 were critical for binding to Tyk2, and activation of Jak1, Tyk2, the insulin receptor substrate-1 and STAT6 respectively. These results suggest that STAT3 activation is involved with IL-4 and IL-13 signals in human B cells along with the activation of STAT6, and that there is a unique sequence in IL-13R alpha 1 to activate STAT3. 相似文献
105.
Nakajima M Kitasako Y Okuda M Foxton RM Tagami J 《Journal of biomedical materials research. Part B, Applied biomaterials》2005,72(2):268-275
The aim of this study was to evaluate the microtensile bond strength (microTBS) and the elemental contents of the adhesive interface created to normal versus caries-affected dentin. Extracted human molars with coronal carious lesions were used in this study. A self-etching primer/adhesive system (Clearfil Protect Bond) was applied to flat dentin surfaces with normal and caries-affected dentin according to the manufacturer's instructions. After 24 h water storage, the bonded specimens were cross-sectioned and subjected to a microTBS test and electron probe microanalysis for the elemental distributions [calcium (Ca), phosphorus (P), magnesium (Mg), and nitrogen (N)] of the resin-dentin interface after gold sputter-coating. The microTBS to caries-affected dentin was lower than that of normal dentin. The demineralized zone of the caries-affected dentin-resin interface was thicker than that of normal dentin (approximately 3 microm thick in normal dentin; 8 microm thick in caries-affected dentin), and Ca and P in both types of dentin gradually increased from the interface to the underlying dentin. The caries-affected dentin had lost most of its Mg content. The distributions of the minerals, Ca, P, and Mg, at the adhesive interface to caries-affected dentin were different from normal dentin. Moreover, a N peak, which was considered to be the collagen-rich zone resulting from incomplete resin infiltration of exposed collagen, was observed to be thicker within the demineralized zone of caries-affected dentin compared with normal dentin. 相似文献
106.
The functional relation between the anterior olfactory area (AO) and the lateral hypothalamic area (LH) was examined in a self-stimulation situation. Bar-pressing responses for AO sitmulation were suppressed by unilateral injection of procaine, and enhanced by glutamate, into LH. Neither procaine nor glutamate injected into AO had any influence upon LH self-stimulation. It is unlikely that the procaine effect was due to motor disturbance because similar injection of procaine into LH did not disturb the performance of a one-way avoidance task. It appears that the rewarding effect of AO stimulation is dependent upon the excitation of the more caudal structures including LH. 相似文献
107.
Taki Y Goto R Evans A Zijdenbos A Neelin P Lerch J Sato K Ono S Kinomura S Nakagawa M Sugiura M Watanabe J Kawashima R Fukuda H 《Neurobiology of aging》2004,25(4):455-463
The objectives of this study were to evaluate the correlations of the volumes of the gray matter and white matter with age, and the correlations of the tissue probabilities of the gray matter and white matter with age and several cerebrovascular risk factors. We obtained magnetic resonance (MR) images of the brain and clinical information from 769 normal Japanese subjects. We processed the MR images automatically by correcting for inter-individual differences in brain size and shape, and by segmenting the MR images into the gray matter and white matter. Volumetry of the brain revealed a significant negative correlation between the gray matter volume and age, which was not observed between white matter volume and age. Voxel-based morphometry showed that age, systolic blood pressure, and alcohol drinking correlated with the regional tissue probabilities of the gray matter and white matter. 相似文献
108.
Recently, eosinophils have been implicated as inflammatory effector cells in allergic and inflammatory reactions such as bronchial asthma. In this study eosinophil-mediated and eosinophilic cell line-mediated natural cytotoxicity against bronchial epithelial cells and the effects of oxatomide, an anti-allergic agent, on their cytotoxicity were investigated. Treatment with oxatomide diminished both eosinophil-mediated and eosinophilic cell line-mediated natural cytotoxicity in vitro. We concluded from these results that oxatomide not only has anti-allergic activity but also anti-inflammatory properties for eosinophils. In addition this method for isolating eosinophils seems to well serve the purpose of evaluating eosinophil function as in this investigation, as we have reported previously. 相似文献
109.
110.
Hisao Yamaguchi Sohta Nakajima Hiroshi Takeuchi Chikao Torikata Keizo Kageyama 《Experimental and molecular pathology》1973,19(3):320-327
The results of our previous investigation indicated that the reaction of intraperitoneal cells against foreign materials depended on the heterogenicity and the molecular weight of the substance (Takeuchi, 1973). Substances tested for cellular reaction in this agar-bullet method were (1) bovine serum albumin, (2) soluble antigen-antibody complexes, (3) mixtures of bovine serum albumin and rabbit gamma globulin, (4) precipitated complexes, and (5) bovine gamma globulin. The soluble complex prepared with excess antigen in vitro showed a marked cellular reaction, which was considered to be due to its heterogenicity and molecular weight. 相似文献