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101.
Tomoko Lee Yasuhiro Takeshima Yo Okizuka Kiyoshi Hamahira Noriko Kusunoki Hiroyuki Awano Mariko Yagi Norio Sakai Masafumi Matsuo Kazumoto Iijima 《Gene》2013
Geleophysic dysplasia (GD) is a rare disorder characterized by severe short stature, short hands and feet, limited joint mobility, skin thickening, characteristic facial features (e.g., a “happy” face), and cardiac valvular disorders that often result in an early death. The genes ADAMTSL2 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif-like 2) and FBN1 (fibrillin 1) were recently identified as causative genes for GD. Here, we describe a 10-year-old Japanese female with GD who was born to non-consanguineous parents. At the age of 11 months, she was referred to our hospital because of very short stature for her age (− 4.4 standard deviations of the age-matched value) and a “happy” face with full cheeks, a shortened nose, hypertelorism, and a long and flat philtrum, characteristic of GD. Her hands and feet were small, her skin was thickened, and her joint mobility was generally limited. She had cardiac valvular disorders and history of recurrent respiratory failure. Mutation analysis revealed no abnormalities in ADAMTSL2. However, analysis of FBN1 revealed a novel heterozygous mutation (c.5161T > T/G) in exon 41, which encodes transforming growth factor-β-binding protein-like domain 5 (TB5). GD is an extremely rare disorder and, to our knowledge, only one case of GD with an FBN1 mutation has been reported in Japan. Similar to the previously reported cases of GD, the mutation in the current patient was located in the TB5 domain, which suggests that abnormalities in this domain of FBN1 are responsible for GD. 相似文献
102.
Tomoko Mizuguchi Katsumi Hagita Susumu Fujiwara Takeshi Yamada 《Molecular simulation》2013,39(17):1437-1446
ABSTRACTThe structural and dynamical properties of water confined in nanoporous silica with a pore diameter of 2.7?nm were investigated by performing large-scale molecular dynamics simulations using the reactive force field. The radial distribution function and diffusion coefficient of water were calculated, and the values at the centre of the pore agreed well with experimental values for real water. In addition, the pore was divided into thin coaxial layers, and the average number of hydrogen bonds, hydrogen bond lifetime and hydrogen bond strength were calculated as a function of the radial distance from the pore central axis. The analysis showed that hydrogen bonds involving silanol (Si–OH) have a longer lifetime, although the average number of hydrogen bonds per atom does not change from that at the pore centre. The longer lifetime, as well as smaller diffusion coefficient, of these hydrogen bonds is attributed to their greater strength. 相似文献
103.
Kazuyo Nagaosa Tomoko Maruyama Nihal Welikala Yohei Yamashita Yui Saito Kenji Kato 《Geomicrobiology journal》2013,30(3-4):131-141
To elucidate bacterial population dynamics in an aquifer, we attempted to reveal the impact of protozoan grazing on bacterial productivity and community structure by an in situ incubation experiment using a diffusion chamber. The abundance and vertical distribution of bacteria and protozoa in the aquifer were revealed using wells that were drilled in a sedimentary rock system in Itako, Ibaraki, Japan. The water column in the wells possessed aerobic and anaerobic layers. Active bacterial populations under the grazing pressure of protozoa were revealed through in situ incubation with grazer eliminating experiment by the filtration. On August 19, 2003, the total number of bacteria (TDC) decreased from 1.5 × 106 cells ml? 1 at 2.2 m depth to 3.0 × 105 cells ml? 1 at 10 m depth. The relative contribution of the domain Bacteria to TDC ranged between 63% and 84%. Protozoa existed at a density of 4.2 × 104 to 1.9 × 105 cells ml? 1 in both aerobic and microaerobic conditions. A grazing elimination experiment in situ for 6 days brought about clearly different bacterial community profiles between the 2.2 m and 10 m samples. The bacterial composition of the initial community was predominantly β- and γ -proteobacteria at 2.2 m, while at 10 m β-, α - and γ -proteobacteria represented 56%, 26% and 13% of the community, respectively. The distribution of bacterial abundance, community composition and growth rates in the subsurface were influenced by grazing as well as by geochemical factors (dissolved oxygen and concentrations of organic carbon, methane and sulfate). Results of the in situ incubation experiment suggested that protozoan grazing contributes significantly to bacterial population dynamics. 相似文献
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Jun-ichi Kanatani Junko Isobe Keiko Kimata Tomoko Shima Miwako Shimizu Fumiaki Kura Tetsutaro Sata Masanori Watahiki 《Applied and environmental microbiology》2013,79(13):3959-3966
We investigated the prevalence of Legionella species isolated from puddles on asphalt roads. In addition, we carried out sequence-based typing (SBT) analysis on the genetic relationship between L. pneumophila serogroup 1 (SG 1) isolates from puddles and from stock strains previously obtained from sputum specimens and public baths. Sixty-nine water samples were collected from puddles on roads at 6 fixed locations. Legionella species were detected in 33 samples (47.8%) regardless of season. Among the 325 isolates from puddles, strains of L. pneumophila SG 1, a major causative agent of Legionnaires'' disease, were the most frequently isolated (n = 62, 19.1%). Sixty-two isolates of L. pneumophila SG 1 from puddles were classified into 36 sequence types (STs) by SBT. ST120 and ST48 were identified as major STs. Environmental ST120 strains from puddles were found for the first time in this study. Among the 14 STs of the clinical isolates (n = 19), 4 STs (n = 6, 31.6%), including ST120, were also detected in isolates from puddles on roads, and the sources of infection in these cases remained unclear. The lag-1 gene, a tentative marker for clinical isolates, was prevalent in puddle isolates (61.3%). Our findings suggest that puddles on asphalt roads serve as potential reservoirs for L. pneumophila in the environment. 相似文献
107.
Tweedia caerulea flowers are sensitive to ethylene and the closing of the flowers, a characteristic of senescence, is accelerated by exposure to ethylene. T. caerulea flowers were continuously treated with ethanol at concentrations of 0, 2, 4, 6, 8, 10 or 12 %, and treatment levels at 4 % and above showed delayed closing. Ethanol accelerated climacteric increase in ethylene production from flowers. Although ethylene production was higher in gynoecium than in petals, ethanol treatment accelerated ethylene production by both organs. Exposure to ethylene increased autocatalytic ethylene production, and production was further accelerated by ethanol treatment. When flowers treated with ethanol were exposed to ethylene, senescence was delayed compared to that for untreated flowers, suggesting that ethanol reduces the sensitivity of flowers to ethylene. These results indicate that treatment with ethanol delays petal senescence in cut T. caerulea flowers, possibly through reduced sensitivity to ethylene. 相似文献
108.
Kazuto Ishikawa Takashi Ohmori Hirokuni Miyamoto Toshiyuki Ito Yoshifumi Kumagai Masatoshi Sonoda Jirou Matsumoto Hisashi Miyamoto Hiroaki Kodama 《Applied microbiology and biotechnology》2013,97(3):1349-1359
NO 3 ? is a major nitrogen source for plant nutrition, and plant cells store NO 3 ? in their vacuoles. Here, we report that a unique compost made from marine animal resources by thermophiles represses NO 3 ? accumulation in plants. A decrease in the leaf NO 3 ? content occurred in parallel with a decrease in the soil NO 3 ? level, and the degree of the soil NO 3 ? decrease was proportional to the compost concentration in the soil. The compost-induced reduction of the soil NO 3 ? level was blocked by incubation with chloramphenicol, indicating that the soil NO 3 ? was reduced by chloramphenicol-sensitive microbes. The compost-induced denitrification activity was assessed by the acetylene block method. To eliminate denitrification by the soil bacterial habitants, soil was sterilized with γ irradiation and then compost was amended. After the 24-h incubation, the N2O level in the compost soil with presence of acetylene was approximately fourfold higher than that in the compost soil with absence of acetylene. These results indicate that the low NO 3 ? levels that are often found in the leaves of organic vegetables can be explained by compost-mediated denitrification in the soil. 相似文献
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110.
Fuminori Tanabe Tomoko Nakajima Masahiko Ito 《Biochemical and biophysical research communications》2013
In Alzheimer’s disease (AD), enhancing α-secretase processing of amyloid precursor protein (APP) is an important pathway to decrease neurotoxic amyloid β (Aβ) secretion. The α-secretase is reported to be regulated by protein kinase C (PKC) and various endogenous proteins or cell surface receptors. In this report, we first examined whether Aβ reduces α-secretase activity, and showed that Aβ peptide 1–40 (0.001 and 0.01 μM) reduced the secretion of soluble amyloid precursor protein α (sAPPα) in carbachol-stimulated SH-SY5Y neuroblastoma cells. E-64-d (3 μM), which is a potent calpain inhibitor that prevents PKC degradation, ameliorated the Aβ-induced reduction of sAPPα secretion. In addition, we observed that Aβ significantly enhanced ceramide production by activating neutral sphingomyelinase. The cell-permeable ceramide analog, C2-ceramide (1 μg/mL), also reduced sAPPα secretion, and in addition, E-64-d eliminated the observed decrease of sAPPα secretion. C2-ceramide induced down-regulation of PKC-α, -β1, and -β2 isozymes in SH-SY5Y cells. These findings suggest that ceramide may play an important role in sAPPα processing by modulating PKC activity. 相似文献