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The organization of the human c-fms proto-oncogene has been determined and compared with an abnormal allele. The human v-fms homologous genetic sequences are dispersed discontinuously and colinearly with the viral oncogene over a DNA region of ca. 32 kilobase pairs. The abnormal c-fms locus contains a small deletion in its 3' portion. DNA sequencing analysis indicated that it was 426 base pairs in size and located in close proximity to a putative c-fms exon.  相似文献   

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Normal and abnormal color-vision genes.   总被引:1,自引:0,他引:1       下载免费PDF全文
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Fifteen human thymomas were analyzed by immunoperoxidase studies on frozen and paraffin-embedded tissue sections in an attempt to identify the existence of immunologically defined microenvironments. All nine lymphocyte predominant thymomas contained a predominance of lymphocytes bearing the phenotype of cortical thymocytes and dendritic Class II major histocompatibility complex antigen-positive epithelial cells, thus defining cortical-like microenvironments. Medullary-like foci were also seen in all of these cases. Minor phenotypic abnormalities in Leu-2 and -3 antigen expression were seen in three cases. In contrast, the two epithelial predominant thymomas and four mixed thymomas all exhibited features of aberrant microenvironmental differentiation, with only two cases showing demarcation into cortical and medullary foci. A lack of Class II major histocompatibility complex antigens was associated with a decrease in the lymphoid populations and an increase in Leu-1 antigen expression by T cells of otherwise normal cortical phenotype when lymphocytes were present. In contrast, lack of Class I antigen on epithelial cells was not associated with any abnormality in lymphocyte phenotype or microenvironmental organization. We document for the first time abnormal microenvironments in thymomas that may offer insights into understanding normal thymic differentiation.  相似文献   

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Mammalian cells can produce abnormal proteins in a number of different ways. These include random errors during protein synthesis, spontaneous or metabolite-induced modifications of amino acid sidechains and changes in polypeptide folding. The evidence that such alterations occur in proteins during growth and senescence is discussed. An important function controlling the accumulation of abnormal proteins is the rate at which they are hydrolysed by proteases. Modified proteins are much better protease substrates than their normal parent molecules, but in spite of this sensitivity to proteolysis they accumulate during ageing. This indicates a drop during senescence in the activity of those proteases degrading abnormal polypeptides. Ways in which abnormal proteins could inhibit cell growth and how these inhibitions may be negated during the immortalisation of diploid cells are discussed.  相似文献   

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Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies.  相似文献   

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Leukocyte migration inhibitory factor (LMIF) production in mixed lymphocyte culture (MLC) reactions is the result of cellular interactions based on two separate phenomena: the capacity of lymphocytes to stimulate in MLC, and the capacity of lymphocytes to respond in MLC. Puromycin-treated lymphocytes are capable of stimulating allogeneic cells for LMIF production, but are unable to respond with synthesis of LMIF (one-way MLC-LMIF test). We have studied the stimulating and responding capacity of lymphocytes from patients with different immunodeficiency syndromes in a one-way MLC-LMIF assay. Lymphocytes from patients known to have qualitative and quantitative defects of T cell or B cell functions (Hodgkin's disease, mycosis fungoides, thymoma, chronic lymphatic leukemia) were found to respond poorly as measured by mediator production although their stimulating fuction was frequently retained. Patients with advanced solid tumors often had both MLC-stimulating and responding functions depressed. There was no apparent correlation between mitogen response and MLC-induced LMIF responses or between MLC proliferative response (as measured by thymidine incorporation) and mediator production. Studying of stimulatory and responding capacity of lymphocytes in the MLC-LMIF assay provides a new tool for assessing immunocompetence and allows for in vitro evaluation of cellular interactions that may play an important role in vivo.  相似文献   

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With advancing age, the majority of individuals experience declines in their ability to learn and remember. An examination of brain structure and function in healthy older persons across the age range indicates that there are substantial changes in the brain that appear to be related to alterations in memory. The nature of the cognitive and neurobiological alterations associated with age-related change is substantially different from that seen in the early stages of a dementing illness, such as Alzheimer''s disease. These differences have implications for potential intervention strategies.  相似文献   

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A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. The special behavioural difficulties were made of restlessness, hyperactivity, obsessive compulsive reactions with a self-injurious tendency and episodes of apparently voluntary vomiting crisis concomitant with stress periods. A review of the available literature strongly suggests that individuals with small chromosomal deletions are at high risk of developing behavioural problems.  相似文献   

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探讨载脂蛋白E(apoE)基因在转基因鼠体内的表达及其在血脂代谢中的作用.以单克隆抗体酶联免疫吸附法分别测定apoE4、apoE7转基因鼠(tg4、tg7)的血清apoE含量.用甘油磷酸化酶(GPO)法和胆固醇氧化酶(CHOD-PAP)法对转基因鼠及对照组鼠(control)的血清甘油三酯(TG)和胆固醇(TC)进行测定.tg4血清apoE含量为20.3±7.2ug/dl,tg7血清apoE含量为1.8±5.4ug/dl.血清TG水平转基因鼠[tg4(19.16±0.31)mmol/L,tg7(18.15±0.46)mmol/L]与对照组鼠[(4.95±2.25)mmol/L]的差异均有显著性(p<0.05).血清TC水平tg4[(4.44±0.04)mmol/L]与对照组鼠[(1.49±0.01)mmol/L]也表现出显著性的差异(p<0.05).提示apoE基因异常表达影响了转基因鼠的血脂代谢.  相似文献   

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