检索结果-内蒙古大学图书馆

PHENOTYPE/ GENOTYPE SCREENING PATTERN OF HEMOPHILIA A AND B IN SAUDI ARAB

Hematology, Transfusion and Cell Therapy 2022年 44卷 S28-S29页

作者： Tarek Owaidah Salwa Bakr Hala AbaAlkhail Hazza Alzahrani Mahasen Saleh Abdulrahman Almusa Nouf Al-Numair Haitham Khogeer Faisal Al-Allaf Department of Pathology King Faisal Specialist hospital and Research Center Riyadh Saudi Arabia Department of Clinical Pathology/Hematology Faculty of Medicine Fayoum University Egypt Saudi Human Genome Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia Department of Medical Genetics Umm Al-Qura University Faculty of Medicine Makkah Saudi Arabia

Objective Hemophilia A and B are X-linked recessive bleeding disorder caused by variants in the factor VIII (FVIII) and factor IX (FIX) genes. There is correlation between the type of mutation and clinical severity of these patients. Establishing national screening program for haemophilia patients is highly encouraged by the World Health Organization (WHO) and World Federation of Haemophilia (WFH). Hence we aimed to establish a genotypic data base for the nature of mutations present in Saudi population. Case report This retrospective descriptive study on a cohort of 136 Saudi hemophilia A and B patients. Methodology Molecular studies were performed to identify known and novel causative variants in hemophilia A and B families and correlated with some clinical features. Results There were 129 male and 7 females with age ranged from 2 - 62 years old, 97 (71.3%) hemophilia A (HA) and 39 (28.7%) hemophilia B (HB). The clinical severity of hemophilia A ranged between mild (10, 10.3%), moderate (2, 2.1%) and severe (83, 85.6%), while for hemophilia B (mild 13 (33.3%), moderate 2 (5.1%) and severe 24 (61.5%) respectively. There were 76 (55.9%) had chronic joint disability. Factor inhibitors with different titers were detected in 24 (24.7%) of HA and only 2 (5.1%) of HB. Out of the whole cohort 136 had been tested for causative variants, 17 (12.5%) were positive for inv-22 and 4 (2.9%) for inv-1, while all negative HA were selected for analysis by next generation sequencing. We are reporting 3 cases of females with severe forms of *** are reporting different mutations that was consistent in group of tested members of same family /trip. We confirmed as previously reported high frequency of inv 22 and we found 7 novel mutation out 12 detected variants for HA and one novel mutation out of 13 detected variants for HB. Conclusion These results will enrich the spectrum of variants and enlarge the factor VIII and factor IX proteins database in the Saudi Arabian population

关键词：

来源：评论

学校读者我要写书评

暂无评论

Frontispiz: Visualizing Microglia with a Fluorescence Turn‐On Ugt1a7c Substrate

引用

Angewandte Chemie 2019年第24期131卷

作者： Beomsue Kim Masahiro Fukuda Jung‐Yeol Lee Dongdong Su Srikanta Sanu Aymeric Silvin Audrey T. T. Khoo Taejoon Kwon Xiao Liu Weijie Chi Xiaogang Liu Sejong Choi Diana S. Y. Wan Sung‐Jin Park Jin‐Soo Kim Florent Ginhoux H. Shawn Je Young‐Tae Chang Singapore Bioimaging Consortium Agency for Science Technology and Research (A*STAR) Singapore 138667 Singapore Program in Neuroscience and Behavioral Disorders Duke-NUS Medical School Singapore 169857 Singapore Department of Chemistry Pohang University of Science and Technology Pohang 37673 Korea Present address: New drug discovery center DGMIF Daegu 41061 Korea Singapore Immunology Network A*STAR Singapore 138648 Singapore Department of Biomedical Engineering Ulsan National Institute of Science and Technology Ulsan 44919 Korea Center for Self-assembly and Complexity Institute for Basic Science (IBS) Pohang 37673 Korea Singapore University of Technology and Design Singapore 487372 Singapore Department of Chemistry Seoul National University Seoul 08826 Korea Center for Genome Engineering IBS Daejeon 34047 Korea

来源：评论

学校读者我要写书评

暂无评论

Visualizing Microglia with a Fluorescence Turn‐On Ugt1a7c Substrate

引用

Angewandte Chemie 2019年第24期131卷

Microglia, the brain‐resident macrophage, are involved in brain development and contribute to the progression of neural disorders. Despite the importance of microglia, imaging of live microglia at a cellular resolution has been limited to transgenic mice. Efforts have therefore been dedicated to developing new methods for microglia detection and imaging. Using a thorough structure–activity relationships study, we developed CDr20, a high‐performance fluorogenic chemical probe that enables the visualization of microglia both in vitro and in vivo. Using a genome‐scale CRISPR‐Cas9 knockout screen, the UDP‐glucuronosyltransferase Ugt1a7c was identified as the target of CDr20. The glucuronidation of CDr20 by Ugt1a7c in microglia produces fluorescence.

关键词： Biologische Aktivität Fluoreszsonden Kontrastmittel Mikroglia Struktur-Aktivitäts-Bezieung

来源：评论

学校读者我要写书评

暂无评论

Frontispiece: Visualizing Microglia with a Fluorescence Turn-On Ugt1a7c Substrate

引用

Angewandte Chemie International Edition 2019年第24期58卷

作者： Dr. Beomsue Kim Dr. Masahiro Fukuda Dr. Jung-Yeol Lee Dr. Dongdong Su Dr. Srikanta Sanu Dr. Aymeric Silvin Audrey T. T. Khoo Prof. Taejoon Kwon Xiao Liu Dr. Weijie Chi Prof. Xiaogang Liu Sejong Choi Diana S. Y. Wan Dr. Sung-Jin Park Prof. Jin-Soo Kim Prof. Florent Ginhoux Prof. H. Shawn Je Prof. Young-Tae Chang Singapore Bioimaging Consortium Agency for Science Technology and Research (A*STAR) Singapore 138667 Singapore Program in Neuroscience and Behavioral Disorders Duke-NUS Medical School Singapore 169857 Singapore Department of Chemistry Pohang University of Science and Technology Pohang 37673 Korea Present address: New drug discovery center DGMIF Daegu 41061 Korea Singapore Immunology Network A*STAR Singapore 138648 Singapore Department of Biomedical Engineering Ulsan National Institute of Science and Technology Ulsan 44919 Korea Center for Self-assembly and Complexity Institute for Basic Science (IBS) Pohang 37673 Korea Singapore University of Technology and Design Singapore 487372 Singapore Department of Chemistry Seoul National University Seoul 08826 Korea Center for Genome Engineering IBS Daejeon 34047 Korea

来源：评论

学校读者我要写书评

暂无评论

Magnetically Tuned Continuous Transition from Weak to Strong Coupling in Terahertz Magnon Polaritons

arXiv

引用

arXiv 2022年

作者： Baydin, Andrey Hayashida, Kenji Makihara, Takuma Tay, Fuyang Ma, Xiaoxuan Ren, Wei Ma, Guohong Noe, G. Timothy Katayama, Ikufumi Takeda, Jun Nojiri, Hiroyuki Cao, Shixun Bamba, Motoaki Kono, Junichiro Department of Electrical and Computer Engineering Rice University HoustonTX77005 United States The Smalley-Curl Institute Rice University HoustonTX77005 United States Division of Applied Physics Graduate School of Engineering Hokkaido University Hokkaido Sapporo060-8628 Japan Department of Physics and Astronomy Rice University HoustonTX77005 United States Applied Physics Graduate Program Smalley-Curl Institute Rice University HoustonTX77005 United States Department of Physics International Center of Quantum and Molecular Structures Materials Genome Institute Shanghai University Shanghai200444 China Department of Physics Graduate School of Engineering Science Yokohama National University Yokohama240-8501 Japan Institute for Materials Research Tohoku University Sendai980-8577 Japan The Hakubi Center for Advanced Research Kyoto University Kyoto606-8502 Japan Department of Physics I Kyoto University Kyoto606-8502 Japan PRESTO Japan Science and Technology Agency Kawaguchi332-0012 Japan Department of Materials Science and NanoEngineering Rice University HoustonTX77005 United States

Depending on the relative rates of coupling and dissipation, a light-matter coupled system is either in the weak- or strong-coupling regime. Here, we present a unique system where the coupling rate continuously increases with an externally applied magnetic field while the dissipation rate remains constant, allowing us to monitor a weak-to-strong coupling transition as a function of magnetic field. We observed a Rabi splitting of a terahertz magnon mode in yttrium orthoferrite above a threshold magnetic field of ∼14 T. Based on a microscopic theoretical model, we show that with increasing magnetic field the magnons transition into magnon polaritons through an exceptional point, which will open up new opportunities for in situ control of non-Hermitian systems. Copyright © 2022, The Authors. All rights reserved.

关键词： Polariton

来源：评论

学校读者我要写书评

暂无评论

programmable Chromism and Photoluminescence of Spiropyran-Based Liquid Crystalline Polymer with Tunable Glass Transition Temperature

引用

Angewandte Chemie 2021年第35期133卷

作者： Wei Hu Chang Sun Yunxiao Ren Shengyu Qin Yu Shao Lanying Zhang Yu Wu Qian Wang Huai Yang Dengke Yang Beijing Advanced Innovation Center for Materials Genome Engineering & Department of Materials Science and Engineering College of Engineering Peking University Beijing 100871 P. R. China School of Materials Science and Engineering University of Science and Technology Beijing Beijing 100083 P. R. China Department of Obstetrics and Gynecology Peking University Third Hospital Beijing 100191 P. R. China Chemical Physics Interdisciplinary Program in Liquid Crystal Institute Kent State University Kent OH 44242 USA

Spiropyran-based materials (SPBMs) can give responses to the stimulations induced by the light, heat, force, or pH, which have been used as triggers for many smart materials. Here, a cross-linkable SPBM containing mesogenic-units is synthesized, which is pale-colored, non-photoluminescent and non-mesogenic at a spiro form, but dark-colored, photoluminescent, and mesogenic at a merocyanine form. Moreover, the dynamic interconversion behavior of the form in the different chemical environments are distinct. Liquid crystalline polymers (LCPs) containing the SPBMs cross-linked via visible light, own a photoswitchable glass transition temperature ( T g ) and retain the switchable property; however, the SPBMs cross-linked via UV light will be locked at the MC state, because the molecular movement was frozen at the room temperature lower than the given T g of the LCP. Thus, programmable chromism and photoluminescence based on the tunable T g can be endowed to the functional materials prepared from the SPBMs.

关键词： chromism liquid crystalline polymer photoluminescence spiropyran-based tunable Tg

来源：评论

学校读者我要写书评

暂无评论

A Fluorescent Rosamine Compound Selectively Stains Pluripotent Stem Cells†

引用

Angewandte Chemie 2010年第41期122卷

作者： Chang‐Nim Im Nam‐Young Kang Hyung‐Ho Ha Xuezhi Bi Jae Jung Lee Sung‐Jin Park Sang Yeon Lee Marc Vendrell Yun Kyung Kim Jun‐Seok Lee Jun Li Young‐Hoon Ahn Bo Feng Huck‐Hui Ng Seong‐Wook Yun Young‐Tae Chang Department of Chemistry National University of Singapore 3 Science Drive 3 Singapore 117543 (Republic of Singapore) Fax: (+65) 6779‐1691 http://ytchang.science.nus.edu.sg Laboratory of Bioimaging Probe Development Singapore Bioimaging Consortium Agency for Science Technology and Research (A*STAR) 11 Biopolis Way # 02‐02 Helios Singapore 138667 (Republic of Singapore) NUS MedChem Program of Life Sciences Institute National University of Singapore Singapore 117543 (Republic of Singapore) Department of Chemistry New York University New York NY 10003 (USA) Gene Regulation Laboratory Genome Institute of Singapore Agency for Science Technology and Research (A*STAR) Singapore 138672 (Republic of Singapore) Department of Biological Sciences National University of Singapore Singapore 117543 (Republic of Singapore)

来源：评论

学校读者我要写书评

暂无评论

Finding high posterior density phylogenies by systematically extending a directed acyclic graph

arXiv

引用

arXiv 2024年

作者： Jennings-Shaffer, Chris Rich, David H. Macaulay, Matthew Karcher, Michael D. Ganapathy, Tanvi Kiami, Shosuke Kooperberg, Anna Zhang, Cheng Suchard, Marc A. Matsen, Frederick A. Public Health Sciences Division Fred Hutchinson Cancer Research Center SeattleWA United States University of Technology Sydney Australian Institute for Microbiology & Infection Sydney Australia Department of Math & Computer Science Muhlenberg College AllentownPA United States School of Mathematical Sciences Peking University Beijing China Department of Human Genetics University of California Los Angeles United States Department of Computational Medicine University of California Los Angeles United States Department of Biostatistics University of California Los Angeles United States Department of Genome Sciences University of Washington Seattle United States Howard Hughes Medical Institute Fred Hutchinson Cancer Research Center SeattleWA United States Computational Biology Program Fred Hutchinson Cancer Research Center 1100 Fairview Ave. N. Mail stop: S2-140 SeattleWA98109-1024 United States

Bayesian phylogenetics typically estimates a posterior distribution, or aspects thereof, using Markov chain Monte Carlo methods. These methods integrate over tree space by applying local rearrangements to move a tree through its space as a random walk. Previous work explored the possibility of replacing this random walk with a systematic search, but was quickly overwhelmed by the large number of probable trees in the posterior distribution. In this paper we develop methods to sidestep this problem using a recently introduced structure called the subsplit directed acyclic graph (sDAG). This structure can represent many trees at once, and local rearrangements of trees translate to methods of enlarging the sDAG. Here we propose two methods of introducing, ranking, and selecting local rearrangements on sDAGs to produce a collection of trees with high posterior density. One of these methods successfully recovers the set of high posterior density trees across a range of data sets. However, we find that a simpler strategy of aggregating trees into an sDAG in fact is computationally faster and returns a higher fraction of probable trees. © 2024, CC BY.

关键词： Markov chains

来源：评论

学校读者我要写书评

暂无评论

Microfractures in TiO2 Enhance the Photoelectrochemical Properties of Photosystem I Bio-Sensitized Solar Cells

Microfractures in TiO2 Enhance the Photoelectrochemical Prop...

引用

BioInspired Processing (BIP), IEEE International Conference on

作者： Sebastián Castro Flores Christopher Espinoza Araya Fabricio Chaverri Segura Leslie W. Pineda Barry D. Bruce Claudia C. Villarreal Escuela de Ciencia e Ingeniería de Materiales Centro de Investigación y Extensión en Ingeniería de Materiales (CIEMTEC) Instituto Tecnológico de Costa Rica Cartago Costa Rica Escuela de Ciencia e Ingeniería de Materiales Centro de Investigación y Extensión en Ingeniería de Materiales (CIEMTEC) Maestría Ingeniería en Dispositivos Médicos Instituto Tecnológico de Costa Rica Cartago Costa Rica Escuela de Química Centro de Investigación en Electroquímica y Energía Química (CELEQ) Universidad de Costa Rica San Jose Costa Ric*é Department of Biochemistry Cellular and Molecular Biology Program in Genome Science and Technology University of Tennessee Knoxville TN USA Laboratorio Nacional de Nanotecnología (LANOTEC) Centro Nacional de Alta Tecnología (CENAT) San José Costa Rica

Climate change, caused by the increasing energy demand from fossil fuels due to population growth and economic expansion, triggers the need for clean, renewable, and sustainable energy sources. The solar energy contributes to approximately 99.9% of the Earth's energy. Therefore, photovoltaic technology is considered a possible substitute for fossil fuels owing to its abundance, but the current silicon and thin film photovoltaic (PV) technologies generate greenhouse gas emissions (GHE) during manufacturing and use scarce and polluting materials. Bio-sensitized solar cells (BSSCs) offer a promising solution using simple, lower energy-demand manufacturing processes and abundant, non-toxic materials. BSSCs are derived from dye-sensitized solar cells (DSSCs) technology by replacing the synthetic dye with biological molecules, such as photosystem I (PSI), into a thin film device. We report a BSSC using PSI as a sensitizer, TiO2 as a wide-bandgap semiconductor, Co-bipyridine compound as a redox mediator in the electrolyte, and PEDOT-CNT composite as the counter electrode. This study investigates how microfractures on the TiO2 thin film induced during thermal sintering affect the photoelectrochemical performance of the BSSCs. Electrochemical characterization of the PSI-BSSCs was performed under a solar simulator using linear sweep voltammetry (LSV), open-circuit voltage decay (OCVD), chronoamperometry, and electrochemical impedance spectroscopy (EIS). SEM micrographs reveal fissures in the photoanode surface induced by the fast heating and cooling during thermal treatments. Surprisingly, the microfractures improved the performance of the solar cells and will be discussed regarding the accessibility of PSI and the mediator to penetrate the nanostructured electrode and enhance the photocurrents generated. The BSSCs improvement due to the microfractures is ascribed to the enabled diffusion of the PSI sensitizer through the nanoporous TiO2, given the significantly larger size o

关键词：

来源：评论

学校读者我要写书评

暂无评论

Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution (vol 33, pg 568, 2020)

引用

NATURE GENETICS 2020年第4期52卷 463-463页

作者： Chan-Seng-Yue, Michelle Kim, Jaeseung C. Wilson, Gavin W. Ng, Karen Figueroa, Eugenia Flores O'Kane, Grainne M. Connor, Ashton A. Denroche, Robert E. Grant, Robert C. McLeod, Jessica Wilson, Julie M. Jang, Gun Ho Zhang, Amy Liang, Sheng-Ben Borgida, Ayelet Chadwick, Dianne Kalimuthu, Sangeetha Lungu, Ilinca Bartlett, John M. S. Krzyzanowski, Paul M. Sandhu, Vandana Tiriac, Herve Froeling, Fieke E. M. Karasinska, Joanna M. Topham, James T. Renouf, Daniel J. Schaeffer, David F. Jones, Steven J. M. Marra, Marco A. Laskin, Janessa Chetty, Runjan Stein, Lincoln D. Zogopoulos, George Haibe-Kains, Benjamin Campbell, Peter J. Tuveson, David A. Knox, Jennifer J. Fischer, Sandra E. Gallinger, Steven Notta, Faiyaz Princess Margaret Cancer Centre Toronto Ontario Canada PanCuRx Translational Research Initiative Ontario Institute for Cancer Research Toronto Ontario Canada Genomics Technology Program Ontario Institute for Cancer Research Toronto Ontario Canada Wallace McCain Centre for Pancreatic Cancer Department of Medical Oncology Princess Margaret Centre University Health Network University of Toronto Toronto Ontario Canada Hepatobiliary/Pancreatic Surgical Oncology Program University Health Network Toronto Ontario Canada UHN Program in BioSpecimen Sciences University Health Network Toronto Ontario Canada Lunenfeld-Tanenbaum Research Institute Mount Sinai Hospital Toronto Ontario Canada Department of Pathology University Health Network and University of Toronto Toronto Ontario Canada Diagnostic Development Ontario Institute for Cancer Research Toronto Ontario Canada Cold Spring Harbor Laboratory Cold Spring Harbor NY USA Lustgarten Foundation Pancreatic Cancer Research Laboratory Cold Spring Harbor NY USA Department of Surgery and Cancer Imperial College London London UK Pancreas Centre BC Vancouver British Columbia Canada Department of Medical Oncology BC Cancer Vancouver British Columbia Canada Department of Pathology and Laboratory Medicine Vancouver General Hospital Vancouver British Columbia Canada Canada’s Michael Smith Genome Sciences Centre Vancouver British Columbia Canada Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada Bioinformatics Ontario Institute for Cancer Research Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Research Institute of the McGill University Health Centre Montreal Quebec Canada The Goodman Cancer Research Centre of McGill University Montreal Quebec Canada Department of Medical Biophysics University of Toronto Toronto Ontario Canada Department of Computer Science University of Toronto Toronto Ontario Canada Can

Pancreatic adenocarcinoma presents as a spectrum of a highly aggressive disease in patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor tumor cellularity and extensive genomic instability. To address this, a dataset of whole genomes and transcriptomes was generated from purified epithelium of primary and metastatic tumors. Transcriptome analysis demonstrated that molecular subtypes are a product of a gene expression continuum driven by a mixture of intratumoral subpopulations, which was confirmed by single-cell analysis. Integrated whole-genome analysis uncovered that molecular subtypes are linked to specific copy number aberrations in genes such as mutant KRAS and GATA6. By mapping tumor genetic histories, tetraploidization emerged as a key mutational process behind these events. Taken together, these data support the premise that the constellation of genomic aberrations in the tumor gives rise to the molecular subtype, and that disease heterogeneity is due to ongoing genomic instability during progression.

关键词： Pancreatic cancer Transcriptomics

来源：评论

学校读者我要写书评

暂无评论

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

请选择保存的检索档案：

请选择收藏分类：

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

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

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：