检索结果-南通市图书馆

Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Bone Research 2016年第1期4卷 48-54页

作者： Qianqian Pang Xuan Qi Yan Jiang ou Wang mei Li Xiaoping Xing Jin Dong Weibo Xia Department of Endocrinology Key Laboratory of EndocrinologyThe Ministry of HealthPeking Union Medical College HospitalChinese Academy of Medical Sciences Department of Endocrinology The First Affiliated Hospital of Shanxi Medical University

Hereditary vitamin D-resistant rickets （HVDRR） is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor （VDR）, which lead to complete or partial target organ resistance to the action of 1,25- dihydroxy vitamin D~ A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene was found to be responsible for the patient＇s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

关键词： VDR Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

微流控芯片在昆虫研究中的应用

引用

应用昆虫学报 2022年第1期59卷 1-15页

作者：欧英琪薛堃中央民族大学生命与环境科学学院北京100081

与昆虫学相关的研究是生命科学最早的研究领域之一,在害虫防治、资源昆虫利用和模式生物(例如黑腹果蝇Drosophila melanogaster)等研究领域有重要意义。微流控芯片(Microfluidic chip)也称作“芯片实验室”(Lab-on-a-chip),是21世纪一... 详细信息

与昆虫学相关的研究是生命科学最早的研究领域之一,在害虫防治、资源昆虫利用和模式生物(例如黑腹果蝇Drosophila melanogaster)等研究领域有重要意义。微流控芯片(Microfluidic chip)也称作“芯片实验室”(Lab-on-a-chip),是21世纪一项重要的技术发明,目前被广泛应用于细胞生物学、发育生物学、体外诊断等领域。随着微流控芯片技术发展的不断深入,与昆虫研究相关的微流控芯片不断出现,促进了昆虫细胞、胚胎发育、昆虫行为和害虫防治等研究领域的发展。本文针对应用于昆虫学领域的微流控芯片研究进行综述。

关键词：微流控芯片细胞培养昆虫行为害虫防治果蝇芯片

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Cilia regeneration requires an RNA splicing factor from the ciliary base

引用

Cell Regeneration 2022年第1期11卷 303-314页

作者： Kaiming Xu Guangshuo ou Tsinghua-Peking Center for Life Sciences Beijing Frontier Research Center for Biological StructureMcGovern Institute for Brain ResearchSchool of Life Sciences and MOE Key Laboratory for Protein ScienceTsinghua UniversityBeijingChina

Cilia are microtubule-based organelles projected from most eukaryotic cell surfaces performing cell motility and signaling.Several previously recognized non-ciliary proteins play crucial roles in cilium formation and function.Here,we provide additional evidence that the Caenorhabditis elegans RNA splicing factor PRP-8/PRPF8 regulates ciliogen-esis and regeneration from the ciliary base.Live imaging of GFP knock-in animals reveals that the endogenous PRP-8 localizes in the nuclei and the ciliary base.A weak loss-of-function allele of prp-8 affects ciliary structure but with little impact on RNA splicing.Conditional degradation of PRP-8 within ciliated sensory neurons showed its direct and spe-cific roles in cilium formation.Notably,the penetrance of ciliary defects correlates with the reduction of PRP-8 at the ciliary base but not nuclei,and sensory neurons regenerated cilia accompanying PRP-8 recovery from the ciliary base rather than the nuclei.We suggest that PRP-8 at the ciliary base contributes to cilium formation and regeneration.

关键词： PRP-8/PRPF8 RNA splicing factor Ciliogenesis Cilium regeneration

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

前后路联合手术治疗下颈椎陈旧性脱位21例临床研究

引用

重庆医学 2007年第20期36卷 2098-2099页

作者：朱美忠权正学欧云生重庆医科大学附属第一医院骨科 400016

目的探讨同期前后路联合手术治疗陈旧性下颈椎脱位的疗效。方法21例经颅骨牵引未能复位的陈旧性下颈椎脱位伴关节突交锁患者,在颅骨牵引下,先从后路松解关节突交锁与脊髓后方压迫,然后行前路减压、植骨内固定术。结果21例均完全复位,症... 详细信息

目的探讨同期前后路联合手术治疗陈旧性下颈椎脱位的疗效。方法21例经颅骨牵引未能复位的陈旧性下颈椎脱位伴关节突交锁患者,在颅骨牵引下,先从后路松解关节突交锁与脊髓后方压迫,然后行前路减压、植骨内固定术。结果21例均完全复位,症状改善,无严重并发症发生。全部病例均获6个月以上随访,椎间植骨融合良好,颈椎生理曲度、椎间高度、颈椎的稳定性均维持良好,15例脊髓损伤患者中14例按Frankel分级有不同程度提高。结论同期前后路联合手术可完全恢复颈椎的序列和高度、解除脊髓压迫,是一种有效的治疗方法,但手术有一定风险,应严格掌握适应证,谨慎操作。

关键词：颈椎陈旧性脱位前后路关节突交锁

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Role of epigenetic abnormalities and intervention in obstructive sleep apnea target organs

引用

Chinese Medical Journal 2023年第6期136卷 631-644页

作者： Yanru ou Dandan Zong Ruoyun ouyang Department of Pulmonary and Critical Care Medicine The Second Xiangya HospitalCentral South UniversityChangshaHunan 410011China Research Unit of Respiratory Disease Central South UniversityChangshaHunan 410011China Diagnosis and Treatment Center of Respiratory Disease Central South UniversityChangshaHunan 410011China

Obstructive sleep apnea(OSA)is a common condition that has considerable impacts on human health.Epigenetics has become a rapidly developing and exciting area in biology,and it is defined as heritable alterations in gene expression and has regulatory effects on disease progression.However,the published literature that is integrating both of them is not sufficient.The purpose of this article is to explore the relationship between OSA and epigenetics and to offer better diagnostic methods and treatment options.Epigenetic modifications mainly manifest as post-translational modifications in DNA and histone proteins and regulation of non-coding RNAs.Chronic intermittent hypoxia-mediated epigenetic alterations are involved in the progression of OSA and diverse multiorgan injuries,including cardiovascular disease,metabolic disorders,pulmonary hypertension,neural dysfunction,and even tumors.This article provides deeper insights into the disease mechanism of OSA and potential applications of targeted diagnosis,treatment,and prognosis in OSA complications.

关键词： Complications Epigenetics Intermittent hypoxia Multiorgan Obstructive sleep apnea

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

发酵制取柠檬皮膳食纤维及其脱色工艺研究

引用

中国酿造 2006年第1期25卷 26-29页

作者：张雪梅蒲彪欧阳玲花李季四川农业大学信息与工程技术学院四川雅安625014

采用正交试验优化绿色木霉发酵制取柠檬皮膳食纤维的最佳工艺,以发酵温度、pH值、发酵时间为主要因素,按L(933)正交组合设计试验,结果表明:提取膳食纤维的最佳组合为发酵温度28℃、发酵时间72h、pH值6.3。同时还进行膳食纤维的脱色处理... 详细信息

采用正交试验优化绿色木霉发酵制取柠檬皮膳食纤维的最佳工艺,以发酵温度、pH值、发酵时间为主要因素,按L(933)正交组合设计试验,结果表明:提取膳食纤维的最佳组合为发酵温度28℃、发酵时间72h、pH值6.3。同时还进行膳食纤维的脱色处理试验,以过氧化氢(H2O2)为脱色剂,探讨了H2O2的用量、反应时间、反应温度及其pH对柠檬皮膳食纤维脱色效果的影响,并通过正交试验确定了柠檬皮膳食纤维脱色的最佳工艺条件,即:H2O2用量5%,pH10,温度45℃,时间3h。

关键词：柠檬皮膳食纤维绿色木霉提取漂白工艺

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Distributed H_∞ PID Feedback for Improving Consensus Performance of Arbitrary-delayed Multi-agent System

引用

International Journal of Automation and computing 2014年第2期11卷 189-196页

作者： Lin-Lin ou Jun-Jie Chen Dong-mei Zhang Lin-Zhang Wei-Dong Zhang Department of Automation Zhejiang University of Technology Department of Automation Shanghai Jiaotong University

The H∞ proportional-integral-differential(PID) feedback for arbitrary-order delayed multi-agent system is investigated to improve the system performance. The closed-loop multi-input multi-output(MIMO) control framework with the distributed PID controller is firstly described for the multi-agent system in a unified way. Then, by using the matrix theory, the prescribed H∞performance criterion of the multi-agent system is shown to be equivalent to several independent H∞ performance constraints of the single-input single-output(SISO) subsystem with respect to the eigenvalues of the Laplacian matrix. Subsequently, for each subsystem,the set of the PID controllers satisfying the required H∞ performance constraint is analytically characterized based on the extended Hermite-Biehler theorem. Finally, the three-dimensional set of the decentralized H∞ PID control parameters is derived by finding the intersection of the H∞ PID regions for all the decomposed subsystems. The simulation results reveal the effectiveness of the proposed method.

关键词： Multi-agent system,proportional-integral-differential(PID) controller,H∞ performance index,parametric space,consensus.

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Authenticating GNSS civilian signals:a survey

引用

Satellite Navigation 2023年第1期4卷 196-213,I0006页

作者： Muzi Yuan Xiaomei Tang Gang ou School of Electronic Science National University of Defense TechnologyChangshaChina

Civilian services of Global Navigation Satellite System are threatened by spoofng attacks since it is hard to determine the authenticity of a navigation signal with a detailed structure open to the public.Signal authentication efectively protects the security of the signal by attaching unforgeable information to one or several elements of the signal.Receivers can verify the authenticity of the signal by extracting and validating this information.Developing good signal authentication schemes requires understanding possible spoofng modes,signal element specialty,and performance evaluation methods.This paper is an overview of navigation signal authentication,where the theories and reported approaches are described in detail.A design/performance matrix that demonstrates the advantages and defects of the signal element and its authentication design is summarized.Recommendations are proposed to improve the robustness,security,efciency,and implementation hardness for future designs of navigation signal authentication.

关键词： GNSS spoofng Signal authentication Signal structure design Authentication scheme

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Combretastatin A4/poly(L-glutamic acid)-graft-PEG conjugates self-assembled to nanoparticles

引用

Asian Journal of Pharmaceutical Sciences 2018年第2期13卷 191-196页

作者： Yang ou Zhao-hui Tang Lu Sun Hai-yang Yu Jia Li mei-hui Zhao Hui Xu School of Pharmacy Shenyang Pharmaceutical University Key Laboratory of Polymer Ecomaterials Changchun Institute of Applied Chemistry Chinese Academy of Sciences

Combretastatin A4(CA4) possesses varying ability to cause vascular disruption in tumors,while the short half-life, low water solubility and deactivation of many CA4 analogs during storage limited its antitumor efficacy and drug stability. A novel macromolecular conjugate of CA4(CA4-PL) was synthesized by covalent bonding of CA4 onto poly(L-glutamic acid)-graft-polyethylene glycol(PLG-g-PEG) via Yamaguchi reaction. The obtained CA4-PL was characterized by ~1H NMR, GPC, and UV methods, and the properties of the nanoparticles composed of CA4-PL, including critical aggregation concentration, size and size distribution, and morphology, were investigated. CA4-PL can self-assemble to form micelle-like nanoparticles of 80～120 nm in diameter, which may have potential to improve the blood circulation period as well as the targetability of CA4, and find applications to treat various tumors when combined with traditional chemotherapy or radio therapy.

关键词： Combretastatin A4 Macromolecular conjugate Poly(L-glutamic acid)-graft-polyethylene glycol Self-assemble Nanoparticles

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

引用

Chinese Medical Journal 2019年第2期132卷 145-153页

作者： Lu-Jiao Li Fang Lyu Yu-Wen Song ou Wang Yan Jiang Wei-Bo Xia Xiao-Ping Xing mei Li Department of Endocrinology National Health Commission Key Laboratory of EndocrinologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China

Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.Methods:A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study.The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing.A new clinical scoring system was developed to quantitatively assess the clinical severity of OI and the genotype-phenotype relationship was analyzed.The independent sample t-test, analysis of variance, Mann-Whitney U-test, Chi-squared test, Pearson correlation, and multiple linear regression were applied for statistical analyses.Results:Among 161 patients with OI, 32.9% missense mutations, 16.8% non-sense mutations, 24.2% splice-site mutations, 24.8% frameshift mutations, and 1.2% whole-gene deletions were identified, of which 38 variations were novel.These mutations led to 53 patients carrying qualitative defects and 67 patients carrying quantitative defects in type I collagen.Compared to patients with quantitative mutations, patients with qualitative mutations had lower alkaline phosphatase level (296 [132, 346] U/L vs.218 [136, 284] U/L, P=0.009) and higher clinical score (12.2 ± 5.3 vs.7.4 ± 2.4, Pould not present with DI if the glycine substitutions happened before the 79th amino acid in triple helix of α1 chains .Conclusions:This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI.This new quantitative analysis of

关键词： Osteogenesis imperfecta COL1A1 Clinical scoring system Genotype Phenotype

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：