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41.
Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel. We found no examples of patients with GNAT2 mutations. Out of 36 achromats, 12 (33%) had mutations in CNGA3 (13 different mutations including five novel mutations) and 12 (33%) had mutations in CNGB3 (six different mutations including four novel mutations). All achromats with CNG mutations had residual, presumably cone function as determined by computer-averaged 30-Hz electroretinograms (ERGs). There was considerable variability in acuity and color vision, with most patients having acuities of 20/200-20/400 and complete absence of color perception, and others having acuities of 20/25-20/40 and some color vision. Two pseudodominant achromatopsia cases were uncovered, both with CNGA3 mutations, including one family in which some compound heterozygotes with achromatopsia mutations were clinically unaffected. We found two novel CNGB3 changes in three patients with juvenile macular degeneration, a phenotype not previously associated with mutations in the cone channel subunits. These patients had subnormal acuity (20/30-20/60), normal to subnormal color vision, and normal to subnormal full-field cone ERG amplitudes. Our results indicate that some patients with channel protein mutations retain residual foveal cone function. Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration. 相似文献
42.
Histogenesis of the duodenum, especially changes in the epithelium in relation to temporal occlusion and re-canalization of
the lumen, was investigated by light microscopy together with morphometric analysis, as well as by scanning and transmission
electron microscopy of 133 externally normal human embryos ranging from Carnegie stage 12 to 23. A series of morphogenetic
events passed the duodenum in a cranio-caudal (proximo-distal) wave like fashion during the period examined. They included:
(1) a decrease in the caliber and area of the lumen, (2) ’occlusion’ of the lumen, (3) vacuole formation, (4) ’re-canalization’
and villi formation. The only exemption to this rule was that, in the upper part of the duodenum, the lumen was not obliterated
in the embryos examined. Morphometric analyses revealed that both the area of the epithelium and the number of epithelial
cells decreased during the ’occlusion’ phase. This result suggests that, unlike the classical view, epithelial cell proliferation
does not play an important role in occluding the lumen, but the predominant morphogenetic event during this phase is convergence
of the epithelial cells to elongate the duodenum. Apoptosis, contrary to some classical views, decreased during the ’re-canalization’
phase, and it appeared to be involved in the formation of the small lumens in the epithelial ’plug’ and in villi formation,
but not in enlarging the secondary lumens. The secondary small lumens in the occluded lumen were frequently formed near the
border between the central ’plug’ and peripheral basal cells on the basement membrane. This and other findings of concentric
differentiation in both the epithelial and mesenchymal layers suggested a possible control mechanism by the epithelium-mesenchymal
interaction on human duodenal morphogenesis and histogenesis. The present electron microscopic observations also provided
details on the mechanisms involved in the enlargement of the secondary lumen and differentiation of villi. The implications
of these findings to duodenal anomalies are also discussed.
Accepted: 12 November 2001 相似文献
43.
Tetsuo Kimoto Fuminori Hyodoh Koji Nishitani Masayoshi Namba Ayako Ueki 《Pathology international》1978,28(1):15-23
Cell-to-cell interaction was investigated in various malignant tumor cells (human ovarial tumor, lung cancer, carcinoma of larynx and hamster melanoma cell) and in human lymphoblastoid cells (T-cell (MOLT-4 cell), thymoma cells and B-cells (Burkitt lymphoma cell)). Live lymphoblastoid cells did not adhere to the cell surfaces of tumor cells nor the lymphoblastoid cells were ingested by tumor cells wihout immunologic and specific treatment. Tumor cells as well as T-cells and B-cells had receptors to concanavalin A on their surfaces, and they showed marked cell binding of tumor cells and lymphoblastoid cells. Moreover, tumor cells that phagocytized lymphoblasts underwent marked cell destruction within 4 hours of cell binding. The cytolytic mechanism of the target tumor cell was probably related to contact with the lymphoblastoid cells and was increased by ingestive activity, and metabolic disturbance by lymphotoxin in tumor cells. 相似文献
44.
Enhanced expression of type I interferon and toll-like receptor-3 in primary biliary cirrhosis 总被引:6,自引:0,他引:6
Takii Y Nakamura M Ito M Yokoyama T Komori A Shimizu-Yoshida Y Nakao R Kusumoto K Nagaoka S Yano K Abiru S Ueki T Matsumoto T Daikoku M Taniguchi K Fujioka H Migita K Yatsuhashi H Nakashima M Harada M Ishibashi H 《Laboratory investigation; a journal of technical methods and pathology》2005,85(7):908-920
45.
Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia 总被引:3,自引:0,他引:3
Taketomi T Yoshiga D Taniguchi K Kobayashi T Nonami A Kato R Sasaki M Sasaki A Ishibashi H Moriyama M Nakamura K Nishimura J Yoshimura A 《Nature neuroscience》2005,8(7):855-857
We report here that loss of the Sprouty2 gene (also known as Spry2) in mice resulted in enteric nerve hyperplasia, which led to esophageal achalasia and intestinal pseudo-obstruction. Glial cell line-derived neurotrophic factor (GDNF) induced hyperactivation of ERK and Akt in enteric nerve cells. Anti-GDNF antibody administration corrected nerve hyperplasia in Sprouty2-deficient mice. We show Sprouty2 to be a negative regulator of GDNF for the neonatal development or survival of enteric nerve cells. 相似文献
46.
Sakamoto T Ushijima H Okitsu S Suzuki E Sakai K Morikawa S Müller WE 《Journal of virological methods》2003,114(2):159-166
Infection of human cells with the human immunodeficiency virus type I (HIV-1) can be mimicked by a fusion process between cells expressing the HIV envelope protein (Env) and cells expressing both human CD4 together with the appropriate human chemokine receptors. In this study, a T-tropic HIV cell-cell fusion assay was established that utilized CD4, human CXCR4 and HIV NL4-3 gp160 as fusion components and a T7 polymerase-activated luciferase as a reporter system. The HeLa T4 cells used, expressed CD4 and CXCR4, and the applied HeLa KS386 cells expressed HIV NL4-3 gp160. By combining HeLa T4 cells with HeLa KS386 cells, an approximately about 100- to 300-fold increase in luciferase activity could be elicited relative to the control. The addition of anti-CD4 monoclonal antibody (Mab) (RPA-T4) or anti-CXCR4 Mab (12G5) in the assay significantly inhibited the fusion event; in contrast, an anti-CCR5 Mab (2D7) had no effect, indicating that the fusion assay was CD4 and CXCR4 dependent. In this report, fusion events could be monitored by both the luciferase reporter system and syncytia formation. Fusion events were monitored and compared using these two approaches. The luciferase reporter system was found to be more sensitive than syncytia formation. Moreover, compared with previous HIV fusion models, such as using recombinant vaccinia viruses, this system has several advantages, including simplicity and sensitivity. Finally, the system provides a powerful tool to study fusion mechanisms mediated by T-tropic HIV gp160, as well as to screen for fusion-blocking antibodies and antiviral agents. 相似文献
47.
48.
Kiyosumi Shibata Fumitaka Kikkawa Akihiko Nawa Koji Tamakoshi Nobuhiko Suganuma Yutaka Tomoda 《Clinical & experimental metastasis》1997,15(6):612-619
Ovarian cancer cells disseminate by attachment to the peritoneal mesothelial cell surface of the abdominal cavity. We therefore investigated the influence of conditioned medium (CM) from human peritoneal tissues and mesothelial cells on the secretion of matrix metalloproteinases (MMPs) by ovarian cancer cells. The molecular weights of MMPs stimulating factors derived from human peritoneal tissues and mesothelial cells were estimated using microconcentrators with various cut-off membranes. Human peritoneal tissues were obtained from 12 surgical patients, and mesothelial cells were isolated from three peritoneal specimens. Exposure to CM from peritoneal tissue caused a concentration-dependent increase of the MMP-2 and MMP-9 bands in CM from NOM1 ovarian cancer cells, as shown by zymography. There was a significant difference in the increase of MMP-2 and MMP-9 (2.46-fold and 7.14-fold, respectively, at 0.4mg/ml protein; P < 0.005). CM from mesothelial cells also significantly increased the secretion of MMP-9 by NOM1 cells. The molecular size of possible MMP-9-stimulating factors secreted by peritoneal tissues and mesothelial cells was above M 100000. Further, CM of peritoneal tissues and mesothelial cells also induced the invasiveness of NOM1 cells. These findings suggest that mesothelial cells may secrete some factors which predominantly induce the MMP-9 production and increase invading cell numbers. 相似文献
49.
Specific Inhibitory Action of Anisodamine against a Staphylococcal Superantigenic Toxin, Toxic Shock Syndrome Toxin 1 (TSST-1), Leading to Down-Regulation of Cytokine Production and Blocking of TSST-1 Toxicity in Mice 下载免费PDF全文
50.
Romagosa E Borella MI Narahara MY Fenerich-Verani N 《Journal of submicroscopic cytology and pathology》2002,34(4):425-431
Oocyte development has been divided into 5 distinct stages in the reared matrinx?, Brycon cephalus, based on morphological criteria by light and transmission electron microscopy: I) chromatin-nucleolus; II) perinucleolar; III) cortical alveoli; IV) vitellogenesis; V) final maturation. In stages I and II (primary growth), oocytes reside in nests close to other oocytes (chromatin-nucleolus phase) and then within a definitive follicle (perinucleolar phase) where they greatly increase in size (the Balbiani vitelline body is the main cytoplasmic component in these latter oocytes), respectively. In stage III (cortical alveolus phase) oocytes are distinguished by the appearance of variably sized cortical alveoli and the number of these structures increases steadily towards hydration. The vitelline envelope becomes prominent. In the process of vitellogenesis (stage IV) one major accumulation of yolk proteins occurs in oocytes. In stage V (final maturation), oocyte increase slightly in size. Follicle cells go through a primordial stage and later change to a squamous and to a cubical shape. The chorion grows to a tripartite structure: an outer thin porous layer, an intermediate homogenous layer and an inner thick helicoidal layer. The ovulation of females matrinx?, required hormonal stimulation and this occurred 6 and 8 h after the second application. 相似文献