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六例遗传性易栓症的血栓发生与实验表型及基因型关联分析
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作者 曹雅楠 夏燕 +7 位作者 王学锋 丁秋兰 许冠群 张利伟 戴菁 陆晔玲 奚晓东 王鸿利 《中华血液学杂志》 CAS CSCD 北大核心 2013年第3期256-258,共3页
易栓症包括遗传性和获得性。获得性易栓症继发于手术创伤、制动、口服避孕药、母体免疫性疾病、恶性肿瘤等,遗传性易栓症主要是由蛋白c(Pc)、蛋白s(Ps)和抗凝血酶(AT)缺陷导致。AT缺陷的发病率为1/5000—1/500,病情较为严重... 易栓症包括遗传性和获得性。获得性易栓症继发于手术创伤、制动、口服避孕药、母体免疫性疾病、恶性肿瘤等,遗传性易栓症主要是由蛋白c(Pc)、蛋白s(Ps)和抗凝血酶(AT)缺陷导致。AT缺陷的发病率为1/5000—1/500,病情较为严重。遗传性Pc缺陷为常染色体显性遗传病, 展开更多
关键词 遗传性易栓症 实验表型 血栓发生 基因型 常染色体显性遗传病 获得性易栓症 口服避孕药 免疫性疾病
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双重杂合性突变Arg304Gln和Arg304Trp导致的遗传性凝血因子Ⅶ缺陷症
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作者 丁秋兰 王鸿利 +5 位作者 王学锋 王明山 傅启华 武文漫 胡翊群 王振义 《检验医学教育》 2002年第4期39-42,48,共5页
目的:探讨一例遗传性凝血因子Ⅶ(coagulation factor Ⅶ,FⅦ)缺陷症家系基因突变的类型。方法:检测凝血指标以明确诊断;用DNA直接测序法对先证者及其家庭成员FⅦ基因的全部外显子和其侧翼以及启动子进行分析,寻找基因突变;将含突变序列... 目的:探讨一例遗传性凝血因子Ⅶ(coagulation factor Ⅶ,FⅦ)缺陷症家系基因突变的类型。方法:检测凝血指标以明确诊断;用DNA直接测序法对先证者及其家庭成员FⅦ基因的全部外显子和其侧翼以及启动子进行分析,寻找基因突变;将含突变序列克隆入pGEM T—easy质粒载体中,对所得两条染色体相应序列分别测序,以确定不同突变在染色体上的分布。应用限制性内切酶MspⅠ对先证者及家系成员相应基因片段进行酶切分析,证实测序所发现的突变。结果:先证者在8号外显子上有两种基因突变:11348位C→T突变和11349位G→A突变。pGEM T—easy质粒克隆测序结果显示上述两种突变位于不同的染色体上。为不同染色体同一编码区Arg(CGG)304Trp(TGG)和Arg(CGG)304Gln(CAG)双重杂合性突变。其父亲、母亲分别为11349位G→A和11348位C→T杂合突变;先证者的弟弟FⅦ基因为正常野生型;其哥哥和3个子女均为杂合性突变。PCR辅助限制性酶切证实了先证者及其家系成员的基因突变。结论:先证者FⅦ基因突变为不同染色体同一编码区Arg304Trp和Arg304Gln双重杂合性突变,此种突变类型的组合尚属首例。 展开更多
关键词 双重杂合性突变 Arg304Glh Arg304Trp 遗传性凝血因子VII缺陷症 基因突变 实验表型 临床症状
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产超广谱β-内酰胺酶阴性杆菌的耐药性检测
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作者 陈婕 蒋显勇 陈虎云 《湘南学院学报(医学版)》 2008年第3期51-53,共3页
目的了解产超广谱β-内酰胺酶(ESBLs)细菌的耐药特点,以指导临床用药。方法用表型确证实验检测224株阴性杆菌产生ESBLs的情况,惠州阳光微生物半自动分析仪SS-100010型系统提供药敏结果。结果在224株受试菌中,共检出产ESBLs细菌78株,总... 目的了解产超广谱β-内酰胺酶(ESBLs)细菌的耐药特点,以指导临床用药。方法用表型确证实验检测224株阴性杆菌产生ESBLs的情况,惠州阳光微生物半自动分析仪SS-100010型系统提供药敏结果。结果在224株受试菌中,共检出产ESBLs细菌78株,总阳性率为34.8%。其中,大肠埃希菌阳性率38.6%;肺炎克雷伯菌阳性率46.7%。产酶菌株对头孢他啶(CAZ)、头孢噻肟(CTX)的耐药率高达97.3%~100%。而不产酶菌株耐药率仅为10%。产酶菌株对氨基糖甙类、喹诺酮类、磺胺类的耐药率分别为:98.5%、86.3%、97%。所有受试菌均对泰能敏感。结论产ESBLs菌株的阳性率近几年有所增高,应引起临床和实验室工作人员的注意并加强对其的检测工作。 展开更多
关键词 超广谱Β-内酰胺酶 表型确证实验 耐药性
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长链非编码RNA Linc00152在泛癌中表达、预后及功能研究 被引量:2
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作者 郑伟 许守平 庞达 《实用肿瘤学杂志》 CAS 2018年第1期7-13,共7页
目的分析Linc00152在泛癌不同组织中表达差异及其表达情况与肿瘤的恶性程度及患者预后的关系,并探究Linc00152在不同类型癌细胞中相关功能。方法选取33例乳腺标本进行RNA-Seq,用q PCR方法检测50对乳腺癌组织和正常组织Linc00152的表达,... 目的分析Linc00152在泛癌不同组织中表达差异及其表达情况与肿瘤的恶性程度及患者预后的关系,并探究Linc00152在不同类型癌细胞中相关功能。方法选取33例乳腺标本进行RNA-Seq,用q PCR方法检测50对乳腺癌组织和正常组织Linc00152的表达,结合GEO和TCGA数据库,分析Linc00152表达与乳腺癌恶性程度及患者预后的相关性;分析Linc00152在不同类型癌症、不同分期和分级中的表达情况。采用MDA-MB-231乳腺癌细胞系、SGC-7901胃癌细胞系、786-O肾癌细胞系进行细胞增殖能力、细胞凋亡和细胞迁移侵袭能力检测。结果 Linc00152在乳腺癌组织高表达(P<0.001),在HER2阳性和三阴性乳腺癌中Linc00152表达更高(P<0.0001);Linc00152高表达的乳腺癌患者无事件生存期和无转移生存期较差(P<0.001;P<0.01);敲降Linc00152后细胞增殖、迁移、侵袭能力降低,细胞凋亡增加(P<0.05)。结论 Linc00152在恶性肿瘤中具有促癌作用,可能是潜在的治疗靶点。 展开更多
关键词 Linc00152 乳腺癌 表达 预后 表型实验
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Experimental Investigation of the Effect of Bow Profiles on Resistance of an Underwater Vehicle in Free Surface Motion 被引量:2
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作者 Mehran Javadi Mojtaba Dehghan Manshadi +1 位作者 Saeid Kheradmand Mohammad Moonesun 《Journal of Marine Science and Application》 CSCD 2015年第1期53-60,共8页
In this paper, towing tank experiments are conducted to study the behavior of flow on a model of the underwater vehicle with various shapes of bows, i.e. tango and standard bows in free surface motion tests. The total... In this paper, towing tank experiments are conducted to study the behavior of flow on a model of the underwater vehicle with various shapes of bows, i.e. tango and standard bows in free surface motion tests. The total resistances for different Froude numbers are considered experimentally. The towing tank is equipped with a trolley that can operate in through 0.05-6 m/s speed with ±0.02 m/s accuracy. Furthermore, the study is done on hydrodynamic coefficients i.e. total, residual and friction resistance coefficients, and the results are compared. Finally, the study on flow of wave fields around bows is done and wave filed around two bows are compared. The Froude number interval is between 0.099 and 0.349. Blockage fraction for the model is fixed to 0.005 3. The results showed that the residual resistance of the standard bow in 0.19 to 0.3 Froude number is more than the tango bow in surface motion which causes more total resistance for the submarine. Finally, details of wave generated by the bow are depicted and the effects of flow pattern on resistance drag are discussed. 展开更多
关键词 underwater vehicle free surface motion bow profile residual resistance towing tank flow assessment Froude mtmber
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Epigenetic regulation mechanism of ABCG2 induced drug-resistant phenotype 被引量:1
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作者 Yuan Jianhui Zhou Jianmeng JiNana Xu Xinyun Liu Jianjun Ke Yuebin Cheng Jinquan. Zhuang Zhixiong 《Journal of Medical Colleges of PLA(China)》 CAS 2011年第5期243-253,共11页
The aim of this study is to investigate epigenetic mechanism of ABCG2 induced drug-resistance. It is not only expatiate for drug-resistance regulation mechanism in all-round, but also to provide scientific experimenta... The aim of this study is to investigate epigenetic mechanism of ABCG2 induced drug-resistance. It is not only expatiate for drug-resistance regulation mechanism in all-round, but also to provide scientific experimental basis for selecting target to reverse its drug-resistance. Apply methylation-specific PCR (MSP) to have tested methylation of ABCG2 promoter region -359 to -353 specific positions in breast cancer tissues and paired adjacent tissue of 22 cases and test their methylation positions with MSP products for sequencing; and adopt fluorescent quantitation RT-PCR to test expression level DNMT1, DNMT3A, DNMT3B and ABCG2; to make analysis on relationship between them with statistical spearman correlation. Specific positions of ABCG2 gene promoter region of 18 cases among the 22 cases with breast cancer (18/22, 82%) existed high methylation (P〈0.05), MSP products sequencing proved methylation of the specific position, and mRNA expression level was relative higher in remarkable positive correlation (P〈0.05) ABCG2, DNMT1, DNMT3A, DNMT3B mRNA expression levels in breast cancer tissues were obviously higher than adjacent tissues (P〈0.01), and DNMT3B expression level was obviously higher than DNMT1 and DNMT3A (P〈0.01) in negative correlation with ABCG2 gene expression (P=0.001). -359 to -353 positions of promoter regions of ABCG2gene existed high methylation capable to push expression of this gene in beast cancer tissue. DNMT3B is involved in expression regulation in ABCG2 gene, and provides new scientific basis for drug-resistance target as reverse ABCG2 induction 展开更多
关键词 Breast cancer ABCG2 gene: Epigenetics
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A modified model of a single rock joint's shear behavior in limestone specimens 被引量:3
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作者 Dindarloo Saeid R. Siami-Irdemoosa Elnaz 《International Journal of Mining Science and Technology》 SCIE EI CSCD 2016年第4期577-580,共4页
The shear behavior of a single rock joint in limestone specimens,under a constant normal load(CNL),was analyzed in this study.Test specimens with different asperity roughness were prepared and tested.Goodman's mod... The shear behavior of a single rock joint in limestone specimens,under a constant normal load(CNL),was analyzed in this study.Test specimens with different asperity roughness were prepared and tested.Goodman's model of a rock joint's shear behavior,under CNL,was modified to render a better representation of the data obtained.The model's applicability was validated.The proposed model showed better correlation with experimental data.It also,requires fewer variables.The steps to calculate all the necessary variables for the model are discussed. 展开更多
关键词 Limestone rockjoints Constant normalload Direct shear test Shear behavior
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EFFECT OF KANGLEMYCIN C ON LYMPHOKIN A PRODUCTION AND GENE EXPRESSION OF MOUSE SPLENOCYTE AND MACROPHAGE
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作者 李建明 谭焕然 林志彬 《Chinese Medical Sciences Journal》 CAS CSCD 2000年第3期165-169,共5页
Aim. To study the effect of kanglemycin C (KC) on production and gene transcription of lymphokins. Methods.Cell proliferation and lymphokin activities were quantified with MTT colorimetry and ELISA, and gene transcrip... Aim. To study the effect of kanglemycin C (KC) on production and gene transcription of lymphokins. Methods.Cell proliferation and lymphokin activities were quantified with MTT colorimetry and ELISA, and gene transcriptions of lymphokins semi quantified with RT PCR. Results.Suppression of KC on proliferation of enriched T and B cell respectively mediated by Con A and LPS was declined by addition of exogenous IL 1, IL 2, and IL 6. KC 80 nmol/L markedly inhibited IL 2 and IL 6 production and mRNA transcription of incubated mouse splenocytes induced by Con A. Additionally, KC had some suppression on IL 1β and IL 6 productions of peritoneal macrophage stimulated by LPS (5μg/mL), whereas cyclosporine (CS) had not. [WT5”BX]Conclusion. [WT5”BZ]Immunosuppression of KC came true partially through the decrease of IL 1β, 2 and 6 productions, especially of IL 2. However, CS′s immunosuppression was mainly through the decrease of IL 2 procduction. 展开更多
关键词 kanglemycin C CYCLOSPORINE lymphokin RT PCR
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检测肠杆菌科超广谱β-内酰胺酶方法的性能评价
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作者 罗冬莲 向玉良 《中外医学研究》 2012年第5期61-62,共2页
目的对临床上如何有效的开展对肠杆菌科超广谱β-内酰胺酶的检测方法进行研究,以利于临床上合理的使用抗生素类药物。方法对送检的58株大肠埃希菌和42株肺炎克雷伯菌分别采用双纸片协同实验、三维实验、纸片表型确证实验和E-test法分别... 目的对临床上如何有效的开展对肠杆菌科超广谱β-内酰胺酶的检测方法进行研究,以利于临床上合理的使用抗生素类药物。方法对送检的58株大肠埃希菌和42株肺炎克雷伯菌分别采用双纸片协同实验、三维实验、纸片表型确证实验和E-test法分别对这100株细菌进行超光谱β-内酰胺酶的检测,记录每种检测方法的灵敏度和特异性。并将结果使用SPSS统计学软件进行χ2检验,α=0.05。结果双纸片协同实验法:敏感性86.21%,特异性88.10%;纸片表型确证方法:敏感性87.93%,特异性85.71%;三维检测法:敏感性93.10%,特异性88.10%;E-test法:敏感性98.28%,特异性95.24%。χ2检验的结果为P<0.05,具有统计学意义。结论四种方法中,E-test法的检测灵敏度和检测特异性最优,对肠杆菌科超广谱β-内酰胺酶的检测效果最佳。 展开更多
关键词 超广谱Β-内酰胺酶 E-TEST 双纸片协同实验 三维实验 纸片表型确证实验
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Adsorption of Cholesterol on Carbon Powders
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作者 Jennifer Lee Gordon Thomas Roy Rybolt Christina Elizabeth Wells 《Journal of Chemistry and Chemical Engineering》 2010年第9期14-27,共14页
Carbon powders have the ability to remove cholesterol from solution by adsorption. Various combinations from among 12 different types of carbon powders (including two medical carbons), having a wide range of surface... Carbon powders have the ability to remove cholesterol from solution by adsorption. Various combinations from among 12 different types of carbon powders (including two medical carbons), having a wide range of surface area and porosity, were used to perform cholesterol adsorption experiments. The cholesterol concentration in a cyclohexane solvent (37 ~C, shaking 200 rpm) was detected at 215 nm using ultraviolet spectroscopy. Most adsorption occurred in the first 30 to 60 minutes. A Langmuir model was used to fit the amount of cholesterol adsorbed per gram of carbon. The medical carbon, Natural Elements Activated Charcoal, adsorbed 234 mg of cholesterol adsorption per gram of carbon. The experimental percentages of cholesterol removed from solution (maximum 98%) were correlated with nitrogen Branauer-Emmett-Teller (BET) surface areas and micro, meso, and macropore volume distributions. Surface area alone was not a suitable predictor of cholesterol adsorption. However, carbon powders exhibiting a large surface area along with significant meso and macropores were shown to be effective in adsorbing cholesterol from a nonpolar environment. Ingestion of a medically approved carbon powder with a large surface area and sufficient meso and macroporosity may be able to adsorb cholesterol in the intestinal tract and thereby lower cholesterol levels in the body. 展开更多
关键词 CHOLESTEROL adsorption capacity adsorption from solution Langmuir isotherm enterosorption POROSITY BET surface area carbon powder.
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Quality Management of Aeronautical Surfaces Manufacturing
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作者 Srdjan Zivkovic 《Management Studies》 2016年第1期16-32,共17页
Wind tunnel testing is experimental support of research and development during the design phase of aircraft and missile projects. The paper presents the developed method of manufacturing management by providing the re... Wind tunnel testing is experimental support of research and development during the design phase of aircraft and missile projects. The paper presents the developed method of manufacturing management by providing the required quality and accuracy of the wind tunnel models. The price of the wind tunnel model is several hundred thousand dollars and for this reason a manufacturing defect is not allowed. Additionally, any delays in the production process cause delay of testing in the wind tunnel. The costs of the delay are very high, because the wind tunnel laboratory is extremely expensive. All the foregoing is why the issue of the model's production is very important. Manufacturing of wind tunnel model within the contracted deadline and the required quality define tasks and objectives of production process management: identification of critical machining operations and activities; minimizing the time of coordinate inspections between cutting operations; identifying the main parameters of quality (shape, position in space, and angular relations); and material management for all other machining operations that follow. Specially developed methods of coordinate metrology are crucial for the management of the manufacturing process. Worldwide used specialized coordinate inspection programs have no option to measure the flaps deflection angles and wing dihedral angle. This paper introduces the originally developed coordinate inspection methods for determining the angular relations between lift and control surfaces. The methods presented in this paper have been confirmed in several international projects. The quality and accuracy of the models for wind tunnel testing are conditio sine qua non. 展开更多
关键词 wind ttmnel models MANUFACTURING coordinate metrology quality management
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Impact of Sea Surface Temperature on COSMO Forecasts of a Medicane over the Western Mediterranean Sea
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作者 Vito Romaniello Paolo Oddo +3 位作者 Marina Tonani Lucio Torrisi Alessandro Grandi Nadia Pinardi 《Journal of Earth Science and Engineering》 2015年第6期338-348,共11页
The paper describes and analyzes the sensitivity of an operational atmospheric model to different SST (sea surface temperature) estimates. The model's sensitivity has been analyzed in a Medicane (Mediterranean hur... The paper describes and analyzes the sensitivity of an operational atmospheric model to different SST (sea surface temperature) estimates. The model's sensitivity has been analyzed in a Medicane (Mediterranean hurricane) test case. Numerical simulations have been performed using the COSMO (consortium for small-scale modeling) atmospheric model, in the COSMO-ME configuration. The model results show that the model is capable of capturing the position, timing and intensity of the cyclone. Sensitivity experiments have been carried out using different SSTs surface boundary conditions for the COSMO forecasts. Four different experiments have been carried out: the first two using SST fields obtained from the OSTIA (operational sea surface temperature and sea ice analysis) system, while the other two using the SST analyses and forecasts from MFS (Mediterranean Forecasting System, Tonani et al., 2015; Pinardi and Coppini, 2010). The different boundary conditions determine differences in the trajectory, pressure minimum and wind intensity of the simulated Medicane. The sensitivity experiments showed that a colder than real SST field determines a weakening of the minimum pressure at the vortex center. MFS SST analyses and forecasts allow the COSMO model to simulate more realistic minimum pressure values, trajectories and wind speeds. It was found that MFS SST forecast, as surface boundary conditions for COSMO-ME runs, determines a significant improvement, compared to ASCAT observations, in terms of wind intensity forecast as well as cyclone dimension and location. 展开更多
关键词 Mediterranean Sea Medicane atmospheric model oceanic model.
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Prediction method for surface finishing of spiral bevel gear tooth based on least square support vector machine
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作者 马宁 徐文骥 +2 位作者 王续跃 魏泽飞 庞桂兵 《Journal of Central South University》 SCIE EI CAS 2011年第3期685-689,共5页
The predictive model of surface roughness of the spiral bevel gear (SBG) tooth based on the least square support vector machine (LSSVM) was proposed.A nonlinear LSSVM model with radial basis function (RBF) kernel was ... The predictive model of surface roughness of the spiral bevel gear (SBG) tooth based on the least square support vector machine (LSSVM) was proposed.A nonlinear LSSVM model with radial basis function (RBF) kernel was presented and then the experimental setup of PECF system was established.The Taguchi method was introduced to assess the effect of finishing parameters on the gear tooth surface roughness,and the training data was also obtained through experiments.The comparison between the predicted values and the experimental values under the same conditions was carried out.The results show that the predicted values are found to be approximately consistent with the experimental values.The mean absolute percent error (MAPE) is 2.43% for the surface roughness and 2.61% for the applied voltage. 展开更多
关键词 pulse electrochemical finishing (PECF) surface roughness least squares support vector machine (LSSVM) PREDICTION
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Phenotypic plasticity Gasterosteus aculeatus ence in captivity of the threespine stickleback telencephalon in response to experi-
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《Current Zoology》 SCIE CAS CSCD 2012年第1期189-210,共22页
Threespine stickleback were used to examine phenotypic plasticity of telencephala in relation to inferred ecology. Fish from derived, allopatric, freshwater populations were sampled from three shallow, structurally co... Threespine stickleback were used to examine phenotypic plasticity of telencephala in relation to inferred ecology. Fish from derived, allopatric, freshwater populations were sampled from three shallow, structurally complex lakes with ben- thic-foraging stickleback (benthics) and from three deep, structurally simple lakes with planktivores (limnetics). The telencepha- Ion of specimens preserved immediately after capture (field-preserved), field-caught fish held in aquaria for 90 days (lab-held), and lab-bred fish from crosses and raised in aquaria were compared. Field-preserved sea-run (ancestral) stickleback were col- lected from two separate sites, and parents of lab-bred sea-run stickleback were collected from one of these sites. In field-preserved and lab-held fish, the telencephala of limnetics exhibited triangular dorsal shape, while those of benthics and sea-run fish had rounder shapes. No such pattern was detected in lab-bred fish. Within each treatment type, benthics had larger relative telencephalon sizes, using overall brain size as the covariate, than limnetics. Among field-preserved samples, sea-run fish had smaller telencephalon sizes than lake fish. Intra-population analyses of lake samples showed that field-preserved fish consis- tently had larger relative telencephalon sizes than lab-bred fish. The opposite was true of the sea-run population. In a separate study using one benthic population and one limnetic population, samples were preserved in the field immediately or held in the lab for 30, 60, and 90 days before they were sacrificed. In both populations, the telencephalon shapes of lab-held fish were similar to those of field-preserved fish but became progressively more like lab-bred ones over 90 days. In contrast, relative telencephalon size decreased dramatically by 30 days after which there was littie change. In freshwater threespine stickleback, the telencephalon exhibits considerable phenotypic plasticity, which was probably present in the ancestor [Current Zoology 58 (1): 189-210, 2012]. 展开更多
关键词 TELENCEPHALON Phenotypic plasticity Brain plasticity Spatial learning Adaptive radiation HIPPOCAMPUS
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MATHEMATICAL DESCRIPTION OF GROWTH OF MULTIPLE ROOT BRANCHING STRUCTURE IN A PLANT
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作者 ARUN KUMAR 《International Journal of Biomathematics》 2013年第3期1-10,共10页
An existing growth model of Edelstien is extended and modified for multiple root branching structure or root hairs of any plant. Numerical and analytical solutions for the model are developed and compared. In the deri... An existing growth model of Edelstien is extended and modified for multiple root branching structure or root hairs of any plant. Numerical and analytical solutions for the model are developed and compared. In the derivation it is assumed that multiple root branches are attached to the root surface that acts as a continuous source of new tips. The numerical scheme is derived with anticipation of the fact that comparison with experimental data may necessitate a more complicated model. 展开更多
关键词 Uptake parameter asymptotic matching van Genuchten formula relativewater content.
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