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TRPV4基因的两个不同变异导致变形性骨发育不良表型严重程度差异 被引量:1
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作者 袁佳雨 孙东兰 李亚洲 《中国组织化学与细胞化学杂志》 CAS CSCD 2021年第6期545-551,共7页
目的对2例临床表型严重程度有所差异的先天骨骼发育异常病例进行遗传学分析,并对检出变异进行生物信息学分析,探讨其致病性。方法本研究中,临床发现2例有不同表型严重程度的骨骼发育不良个体及其父母,并对其进行了包括染色体核型、染色... 目的对2例临床表型严重程度有所差异的先天骨骼发育异常病例进行遗传学分析,并对检出变异进行生物信息学分析,探讨其致病性。方法本研究中,临床发现2例有不同表型严重程度的骨骼发育不良个体及其父母,并对其进行了包括染色体核型、染色体微阵列分析(CMA)和全外显子测序(WES)的序贯式遗传检测,以Sanger测序作为变异验证方法,对检出错义变异进行了生物信息学结构分析。结果2例先证者的核型及CMA结果均正常,WES在2例先证者中分别检出TRPV4基因的两个变异,一个错义变异c.2389G>A(p.E797K)和一个整码缺失变异c.1412_1414del(p.F471del)。家系验证证实2个变异均为新发变异。2个变异发生在该基因的不同结构域,对错义变异的结构分析结果支持了其致病性。结论TRPV4基因变异所导致的变形性骨发育不良表型严重程度与变异具体位置有很大的关系。 展开更多
关键词 变形性骨发育不良 TRPV4基因 全外显子测序 错义变异
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反倾层状岩体倾倒变形发育深度模型的计算分析 被引量:2
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作者 金文祥 许腾晖 孙书勤 《水利水电技术》 CSCD 北大核心 2018年第5期129-135,共7页
为分析反倾岩质边坡弯曲倾倒破坏机理,通过对反倾层状岩体的物理力学解析及悬臂梁极限平衡分析模型的优化,开展反倾层状岩体变形发育深度计算研究。基于流变理论,采用广义开尔文流变模型,以变形发育极限位置处零应变作为发育深度的界定... 为分析反倾岩质边坡弯曲倾倒破坏机理,通过对反倾层状岩体的物理力学解析及悬臂梁极限平衡分析模型的优化,开展反倾层状岩体变形发育深度计算研究。基于流变理论,采用广义开尔文流变模型,以变形发育极限位置处零应变作为发育深度的界定标准,获取了反倾层状倾倒变形体的发育深度。进而,将两种方法推导出来的计算式进行工程实例分析,并与前人的研究成果进行对比分析,探讨其工程实际应用价值。实例计算表明:优化下的悬臂梁模型比广义开尔文流变模型计算的发育深度更接近实际情况;反倾层状边坡倾倒变形破坏发展演化的四个阶段为初始弯曲变形阶段、累计弯曲变形阶段、板裂体折断破裂阶段、破坏阶段。研究成果对反倾层状岩质边坡整体稳定性判别及失稳规模预测具有一定理论意义和参考价值。 展开更多
关键词 反倾层状岩体 发育深度 倾倒变形 悬臂梁极限平衡分析模型 流变模型 变形发育规模 锚固工程 应力转换莫尔圆
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变形性发育不良患者TRPV4基因突变一例报告
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作者 罗小庆 杨鹏 +6 位作者 李灿 谢杨丽 杨京 旷梁 陈波 陈林 苏楠 《中华骨质疏松和骨矿盐疾病杂志》 CSCD 北大核心 2022年第6期676-682,共7页
报告1例变形性发育不良(metatropic dysplasia,MD)患者的临床表型和基因突变。先证者为6岁男童,采用查体、X线成像等对其临床表型进行分析;通过Sanger测序,分析患者瞬时感受电位香草酸家族4(transient receptor potential vanilloid 4,T... 报告1例变形性发育不良(metatropic dysplasia,MD)患者的临床表型和基因突变。先证者为6岁男童,采用查体、X线成像等对其临床表型进行分析;通过Sanger测序,分析患者瞬时感受电位香草酸家族4(transient receptor potential vanilloid 4,TRPV4)基因的突变情况。患者身材矮小、头部增大、前额突出、鼻梁低平、方形下巴、脊柱侧弯和后凸、胸骨前突、关节畸形、膝外翻、鸭步步态、骶尾部骨性突起。影像学异常包括椎体扁平、椎间隙增宽,腕骨骨化延迟,骨龄明显落后于正常儿童,跟骨和距骨不规则,四肢长骨干骺端膨大、呈哑铃型,髂骨短、宽且周边不规整、髋臼上切迹、耻骨联合增宽、尾骨延长并向左侧弯。TRPV4基因测序结果显示第14号外显子存在1个c.2318A>C杂合错义突变,导致第773位天冬氨酸突变为丙氨酸(p.D773A)。该突变为新突变,正常人基因中无此突变。 展开更多
关键词 变形发育不良 TRPV4基因 突变
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巷道断面空间岩层变形与破坏演化特征光纤监测研究 被引量:21
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作者 张平松 张丹 +2 位作者 孙斌杨 施斌 许时昂 《工程地质学报》 CSCD 北大核心 2019年第2期260-266,共7页
煤层开采过程中巷道围岩会发生变形、移动与破坏,其动态变化特征对巷道设计、支护等技术参数的选择具有重要的参考意义。论文结合淮南矿区某工作面回采进程,在煤巷中布设测试断面,通过钻孔布置分布式光纤传感器,对煤岩层变形与破坏过程... 煤层开采过程中巷道围岩会发生变形、移动与破坏,其动态变化特征对巷道设计、支护等技术参数的选择具有重要的参考意义。论文结合淮南矿区某工作面回采进程,在煤巷中布设测试断面,通过钻孔布置分布式光纤传感器,对煤岩层变形与破坏过程中产生的应变参数进行实测与分析,讨论断面空间岩层变形发育规律及其采动影响特征。井下2个监测钻孔的16组监测数据分析结果表明:工作面回采过程中,底板岩层受采动影响发生变形产生位移特征明显,且受岩层界面控制,变形位置多自层面开始逐渐发育,探查区底板岩层破坏的最大深度达14.1 m,与电阻率CT结果基本一致,且超前应力显现明显,整体监测效果良好。认为分布式光纤测试技术可精确分辨采动作用下岩层的变形演化过程,有利于研究不同条件下岩层受力后发生变形及破裂的规律。 展开更多
关键词 岩层变形发育 光纤监测 采动影响 煤巷断面
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西藏樟木镇友谊桥3号滑坡破坏机理及防治措施分析 被引量:2
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作者 曹松傑 高进 +1 位作者 武博强 张超 《路基工程》 2021年第5期219-225,共7页
以中尼边境友谊桥^(#)3滑坡治理工程为依托,在现场勘查及室内试验的基础上,深入研究滑坡发育变形历史,分析其成因机制;采用折线滑动法进行天然、暴雨及地震工况下的滑坡稳定性分析。结果显示:滑坡所有计算模型在天然工况下均为稳定状态... 以中尼边境友谊桥^(#)3滑坡治理工程为依托,在现场勘查及室内试验的基础上,深入研究滑坡发育变形历史,分析其成因机制;采用折线滑动法进行天然、暴雨及地震工况下的滑坡稳定性分析。结果显示:滑坡所有计算模型在天然工况下均为稳定状态,大部分剖面模型在降雨工况下呈现欠稳定-基本稳定状态,地震工况下各剖面模型均呈现基本稳定-稳定状态;提出针对性的综合治理方案,效果良好。 展开更多
关键词 牵引式滑坡 发育变形 破坏机理 滑坡稳定性 滑坡治理
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国道G318线公路灾后恢复对策研究 被引量:2
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作者 车晶 段百全 《路基工程》 2022年第1期209-215,共7页
以国道G318线某段公路灾后恢复重建工程为依托,进行现场勘察及室内试验,深入研究坍塌岸坡区发育变形历史,分析其成因机制;对滑坡进行天然、暴雨及地震工况下的稳定性分析;总结出临水区公路灾毁工程保通思路与措施:采取对内侧边坡进行开... 以国道G318线某段公路灾后恢复重建工程为依托,进行现场勘察及室内试验,深入研究坍塌岸坡区发育变形历史,分析其成因机制;对滑坡进行天然、暴雨及地震工况下的稳定性分析;总结出临水区公路灾毁工程保通思路与措施:采取对内侧边坡进行开拓、设置抗滑桩+锚索肋板墙等综合支挡措施,坡体在各类工况下均处于稳定状态,经近一年监测未见异常,防治措施合理可行。 展开更多
关键词 灾后 发育变形 破坏机理 防护设计 滑坡治理
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CRANIODENTAL VARIATION OF MACAQUES ( Macaca ): SIZE,FUNCTION AND PHYLOGENY
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作者 潘汝亮 Charles Oxnard 《Zoological Research》 CAS CSCD 2000年第4期308-322,共15页
In order to analyze skull variation in the genus Macaca ,seventy seven craniodental variables were taken from eleven species.They were first defined seven functional units comprising three anatomical regions.Twenty s... In order to analyze skull variation in the genus Macaca ,seventy seven craniodental variables were taken from eleven species.They were first defined seven functional units comprising three anatomical regions.Twenty seven variables were finally selected to carry out the morphology of the whole skull.The data,organized in these ways,were examined to discover variations between and within the various species.The methods used were Principal Components Analysis (PCA) and Discriminant Function Analysis (DFA).PCAs of the functional units anatomical regions,and the whole skull provided similar,though not identical,separations of species clusters in both sexes separately.These differences in structure could be related to size,sexual dimorphism,diet,ecology,classification and phylogeny.The question of size should have been easy to settle.Unfortunately,this is not the case.In this study where the raw data are measurements of the specimens,the main differences should be size.However,the size differences seem to occur in both the first and second (independent) multivariate axes.In some analyses the size differences between the species are biggest and appear in the first axis.In other analyses it is the separation between the sexes (and these too are largely size) that are the biggest and appear in the first axis.Yet in other analyses,both of these size separations,though still orthogonal to one another,present in the combination of the first two axes.This certainly implies that a single axis of body size is not present and that shape differences have not been isolated form size differences.It also implies that sexual dimorphism is a complex matter.As a result,the question of the relationships between the species is therefore also complex.One cluster of species that includes M fascicularis,M sinica and M radiata was significantly isolated from all others regardless of level of analysis.This relationship is quite different from that proposed on the anatomy of the reproductive organs (Delson,1980;Fooden,1976,1980). 展开更多
关键词 PRIMATES MACACA Craniodental variation Morphometric analysis Functional adaptation PHYLOGENY
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大新乡场镇危岩稳定性研究及其防治措施 被引量:1
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作者 周舟 罗显均 《岩土工程技术》 2016年第5期254-257,265,共5页
危岩体是工程地质最具特色的问题之一,对危岩体变形发育特征、稳定性及防治对策的研究成为了国内外工程地质领域的研究热点与难点。以大新乡场镇危岩体为工程实例,在对形成危岩体的区域地质环境进行详细分析基础上,系统地研究了危岩体... 危岩体是工程地质最具特色的问题之一,对危岩体变形发育特征、稳定性及防治对策的研究成为了国内外工程地质领域的研究热点与难点。以大新乡场镇危岩体为工程实例,在对形成危岩体的区域地质环境进行详细分析基础上,系统地研究了危岩体的变形发育特征、稳定性计算方法以及危岩崩塌工程防治对策等。 展开更多
关键词 危岩体 变形发育特征 稳定性计算方法 防治对策
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Evolving management of metaplasia and dysplasia in Barrett's epithelium
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作者 Richard PT Evans Moustafa Mabrouk Mourad +1 位作者 Simon G Fisher Simon R Bramhall 《World Journal of Gastroenterology》 SCIE CAS 2016年第47期10316-10324,共9页
Oesophageal cancer affects more than 450000 people worldwide and despite continued medical advancements the incidence of oesophageal cancer is increasing. Oesophageal cancer has a 5 year survival of 15%-25% and now gl... Oesophageal cancer affects more than 450000 people worldwide and despite continued medical advancements the incidence of oesophageal cancer is increasing. Oesophageal cancer has a 5 year survival of 15%-25% and now globally attempts are made to more aggressively diagnose and treat Barrett's oesophagus the known precursor to invasive disease. Currently diagnosis the of Barrett's oesophagus is predominantly made after endoscopic visualisation and histopathological confirmation. Minimally invasive techniques are being developed to improve the viability of screening programs. The management of Barrett's oesophagus can vary greatly dependent on the presence and severity of dysplasia. There is no consensus between the major international medical societies to determine and agreed surveillance and intervention pathway. In this review we analysed the current literature to demonstrate the evolving management of metaplasia and dysplasia in Barrett's epithelium. 展开更多
关键词 Barrett’s OESOPHAGUS DYSPLASIA METAPLASIA Oesophageal cancer
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Morphological variation and distribution of free neuromasts during half-smooth tongue sole Cynoglossus semilaevis ontogeny
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作者 马爱军 商晓梅 +5 位作者 周洲 王新安 孙志宾 崔文晓 夏丹丹 马本贺 《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 2017年第2期244-250,共7页
This study was conducted to clarify the distribution and morphology of free neuromasts during the development of half-smooth tongue sole (Cynoglossus semilaevis) using scanning electron microscopy. During developmen... This study was conducted to clarify the distribution and morphology of free neuromasts during the development of half-smooth tongue sole (Cynoglossus semilaevis) using scanning electron microscopy. During development, (1) the apical surface of free neuromasts changed in shape from a circle to a four-poiut star; (2) the external structure changed from being level with the epidermis to papilla-like above the level of the epidermis; (3) the neuromast cupula changed from cylindrical to blade-shaped; (4) the free neuromasts went from occurring singly to being in clusters of a few single organs; (5) the arrangement changed from a linear array to no discernable pattern; (6) there was a significant increase in the number of free neuromasts after metamorphosis. In adult C. semilaevis, free neuromasts were only observed on the abocular side of the head. Thus, there were more free neuromasts located on the abocular side of the head with a higher concentration around the anterior nostril and mouth, which may have a mechanical sensory function to help locate food as an adaptation to a benthic mode of life. 展开更多
关键词 MORPHOLOGY structure cupula METAMORPHOSIS scanning electron microscopy (SEM)
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采动覆岩涌水溃砂灾害模拟试验系统研制与应用 被引量:19
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作者 郭惟嘉 王海龙 +1 位作者 陈绍杰 李金平 《岩石力学与工程学报》 EI CAS CSCD 北大核心 2016年第7期1415-1422,共8页
为研究煤层开采过程中覆岩涌水溃砂灾害的演化特征,研制采动覆岩涌水溃砂灾害模拟试验系统。该系统由主体承载支架、试验舱、承压水仓、模拟采煤装置、储能罐、水压水量双控伺服系统和位移应力双控伺服系统组成,具有模拟空间大、可视度... 为研究煤层开采过程中覆岩涌水溃砂灾害的演化特征,研制采动覆岩涌水溃砂灾害模拟试验系统。该系统由主体承载支架、试验舱、承压水仓、模拟采煤装置、储能罐、水压水量双控伺服系统和位移应力双控伺服系统组成,具有模拟空间大、可视度优、密封性好、加载方式多样、数据精度高等特点。以西部地区煤炭赋存地层为工程背景,利用研制的低强度非亲水相似材料对煤系地层进行模拟铺设,并对其进行模拟开采,较好地再现了覆岩涌水溃砂灾害孕育、发展及发生的全过程,获得工作面开采过程中覆岩变形破坏、裂隙发育扩展、水砂通道形成及水砂突涌参数和特征。试验结果表明该试验系统稳定可靠,研究方法及结果对进一步认识采煤工作面涌水溃砂灾害的形成机制具有指导和借鉴意义。 展开更多
关键词 采矿工程 采动覆岩 涌水溃砂 变形破坏、裂隙发育扩展、模拟试验
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Charting brain growth in tandem with brain templates at school age 被引量:4
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作者 Hao-Ming Dong F.Xavier Castellanos +20 位作者 Ning Yang Zhe Zhang Quan Zhou Ye He Lei Zhang Ting Xu Avram J.Holmes B.T.Thomas Yeo Feiyan Chen Bin Wang Christian Beckmann Tonya White Olaf Sporns Jiang Qiu Tingyong Feng Antao Chen Xun Liu Xu Chen Xuchu Weng Michael P.Milham Xi-Nian Zuo 《Science Bulletin》 SCIE EI CAS CSCD 2020年第22期1924-1934,M0004,共12页
Brain growth charts and age-normed brain templates are essential resources for researchers to eventually contribute to the care of individuals with atypical developmental trajectories.The present work generates age-no... Brain growth charts and age-normed brain templates are essential resources for researchers to eventually contribute to the care of individuals with atypical developmental trajectories.The present work generates age-normed brain templates for children and adolescents at one-year intervals and the corresponding growth charts to investigate the influences of age and ethnicity using a common pediatric neuroimaging protocol.Two accelerated longitudinal cohorts with the identical experimental design were implemented in the United States and China.Anatomical magnetic resonance imaging(MRI)of typically developing school-age children(TDC)was obtained up to three times at nominal intervals of1.25 years.The protocol generated and compared population-and age-specific brain templates and growth charts,respectively.A total of 674 Chinese pediatric MRI scans were obtained from 457 Chinese TDC and 190 American pediatric MRI scans were obtained from 133 American TDC.Population-and age-specific brain templates were used to quantify warp cost,the differences between individual brains and brain templates.Volumetric growth charts for labeled brain network areas were generated.Shape analyses of cost functions supported the necessity of age-specific and ethnicitymatched brain templates,which was confirmed by growth chart analyses.These analyses revealed volumetric growth differences between the two ethnicities primarily in lateral frontal and parietal areas,regions which are most variable across individuals in regard to their structure and function.Age-and ethnicity-specific brain templates facilitate establishing unbiased pediatric brain growth charts,indicating the necessity of the brain charts and brain templates generated in tandem.These templates and growth charts as well as related codes have been made freely available to the public for open neuroscience(https://github.com/zuoxinian/CCS/tree/master/H3/Growth Charts). 展开更多
关键词 Growth charts NEUROIMAGING ETHNICITY Brain templates DEVELOPMENT
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Phenotypic plasticity can explain evolution of sympatric polymorphism in the hairy snail Trochulus hispidus (Linnaeus, 1758) 被引量:2
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作者 Matgorzata PROCKOW Elzbieta KUZNIK-KOWALSKA Pawet MACKIEWICZ 《Current Zoology》 SCIE CAS CSCD 2017年第4期389-402,共14页
Morphological variation of snails from the genus Trochulus is so huge that their taxonomy is unclear. The greatest variability concerns forms hispidus and sericeus/plebeius, which are often considered as separate spec... Morphological variation of snails from the genus Trochulus is so huge that their taxonomy is unclear. The greatest variability concerns forms hispidus and sericeus/plebeius, which are often considered as separate species. To evidence the species barriers, we carried out crossbreeding ex- periments between these two sympatric morphs. Moreover, we compared the shell morphology of laboratory-bred offspring with their wild parents to test if the variation can be explained by the phenotypic plasticity model. We found that the two Trochulus morphs show no reproductive bar- riers. The fecundity rates, the mean clutch size, and F~ viability observed for all crosses were not significantly different. In hybrid crosses (in F2 generation), we also recorded reproduction compati- bility, similar fecundity, and hatching success as in their parents. Accordingly, phylogenetic ana- lyses revealed the significant grouping of sequences from these different morphs and supported no constrains in reproduction between them. Comparison of shell morphology between wild and laboratory samples showed that various characters appeared highly plastic. The average shell shape of the hispidus morph changed significantly from flat with wide umbilicus to elevated with narrower umbilicus such as in the sericeus/plebeius morph. All these findings indicate that the examined morphs do not represent separate biological species and the evolutionary process is not advanced enough to separate their genetic pool. Therefore, phenotypic plasticity has played a sig- nificant role in the evolution of Trochulus shell polymorphism. The two morphs can evolve inde- pendently in separate phylogenetic lineages under the influence of local environmental conditions. 展开更多
关键词 CROSSBREEDING cytochrome c oxidase subunit I molecular phylogeny phenotypic variation principal component analysis shell morphology.
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