HEMOGLOBINOPATHIES

作品数:14被引量:34H指数:3
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相关领域:医药卫生更多>>
相关期刊:《Science China(Life Sciences)》《Journal of Life Sciences》《Open Journal of Blood Diseases》《World Journal of Medical Genetics》更多>>
相关基金:国家自然科学基金中国博士后科学基金更多>>
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Gene therapy and gene editing strategies in inherited blood disorders
《Journal of Genetics and Genomics》2024年第11期1162-1172,共11页Xuemei Song JinLei Liu Tangcong Chen Tingfeng Zheng Xiaolong Wang Xiang Guo 
supported by Research Fund of Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital(30420230006);the National Natural Science Foundation of China(Nos.82300142);Sichuan Science and Technology Program(2022ZYD0131)。
Gene therapy has shown significant potential in treating various diseases,particularly inherited blood disorders such as hemophilia,sickle cell disease,and thalassemia.Advances in understanding the regulatory network ...
关键词:Gene therapy Inherited blood disorders Therapeutic targets β-Hemoglobinopathies Gene editing 
Phenotypic analysis of hemoglobinopathies caused by rare variants of α-globin gene in Guangxi Zhuang Autonomous Region
《China Medical Abstracts(Internal Medicine)》2024年第3期149-150,共2页LIN Li 
Objective To study the rare variation and phenotype spectrum of α-globin protein gene in Guangxi Zhuang Autonomous Region (hereinafter referred to as Guangxi),and to provide a scientific basis for prevention and trea...
关键词:PREVENTION RARE Zhuang 
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China被引量:5
《Biomedical and Environmental Sciences》2023年第2期127-134,共8页XI Hui LIU Qin XIE Dong Hua ZHOU Xu TANG Wang Lan TANG De Guo ZENG Chun Yan WANG Qiong NIE Xing Hui PENG Jin Ping GAO Xiao Ya WU Hong Liang ZHANG Hao Qing QIU Li FENG Zong Hui WANG Shu Yuan ZHOU Shu Xiang HE Jun ZHOU Shi Hao ZHOU Fa Qun ZHENG Jun Qing WANG Shun Yao CHEN Shi Ping ZHENG Zhi Fen MA Xiao Yuan FANG Jun Qun LIANG Chang Biao WANG Hua 
supported by the National Key Research and Development Program of China[2021YFC1005300];the science and technology innovation Program of Hunan Province—Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province[2019SK1010 and 2019SK1011];Hunan Province Clinical Medical Technology Innovation Guidance Project"Screening,prevention and control of single gene disease carriers and panel research in childbearing age people in Hunan Province"[2021SK50602].
Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening fr...
关键词:THALASSEMIA Carrier rate Molecular spectrum Abnormal hemoglobin variants α-globin triplication 
Perforated duodenal ulcer secondary to deferasirox use in a child successfully managed with laparoscopic drainage:A case report
《World Journal of Clinical Cases》2022年第34期12775-12780,共6页Abdullah Alshehri Tuqa Adil Alsinan 
BACKGROUND A perforated gastroduodenal ulcer is rarely observed in children.Certain medications have been reported to cause ulcerations.Deferasirox,an iron chelating agent,has been previously reported to be associated...
关键词:Peptic ulcer Iron chelating agents DEFERASIROX HEMOGLOBINOPATHIES CHILDREN Case report 
Incidence of Sickle Cell Disease and Other Hemoglobinopathies in Burkina Faso: Results of a Five-Year Systematic Neonatal Screening (2015-2019) in Four Urban Hospitals
《Open Journal of Blood Diseases》2022年第4期87-97,共11页Salam Sawadogo Koumpingnin Nebie Donatien Kima Hélène Traore Savadogo Jean De Dieu Sanou Dieudonné Ouedraogo Paul Ouedraogo Hyacinthe Zamane Abdoulaye Ndiaye Eléonore Kafando 
Hemoglobinopathies, mainly Sickle cell disease (SCD), are the most common monogenic disorders in Africa. In Burkina Faso, data on these diseases are scarce, mainly hospital-based in Ouagadougou and its surroundings. I...
关键词:Abnormal Hemoglobin β-Globin Gene Newborn Screening Isoelectric Focusing 
Recent advances in lentiviral vectors for gene therapy被引量:11
《Science China(Life Sciences)》2021年第11期1842-1857,共16页Xiaoyu Wang Cuicui Ma Roberto Rodríguez Labrada Zhou Qin Ting Xu Zhiyao He Yuquan Wei 
This work was supported by the National Key Research and Development Program of China(2020YFC2008302);the Sichuan Science and Technology program(2019YFG0266);the 1.3.5 project for disciplines of excellence,West China Hospital,Sichuan University(ZYJC18028,2021HXFH064).
Lentiviral vectors(LVs), derived from human immunodeficiency virus, are powerful tools for modifying the genes of eukaryotic cells such as hematopoietic stem cells and neural cells. With the extensive and in-depth stu...
关键词:lentiviral vector gene therapy primary immunodeficiency diseases LEUKEMIA HEMOGLOBINOPATHIES neurodegenerative diseases 
Therapeutic gene editing strategies using CRISPR-Cas9 for theβ-hemoglobinopathies
《The Journal of Biomedical Research》2021年第2期115-134,共20页James B.Papizan Shaina N.Porter Akshay Sharma Shondra M.Pruett-Miller 
With advancements in gene editing technologies,our ability to make precise and efficient modifications to the genome is increasing at a remarkable rate,paving the way for scientists and clinicians to uniquely treat a ...
关键词:sickle cell disease sickle cell anemia fetal hemoglobin HEMOGLOBINOPATHY CRISPR gene editing genome engineering 
Reactivation of γ-globin expression through Cas9 or base editor to treat β-hemoglobinopathies被引量:18
《Cell Research》2020年第3期276-278,共3页Liren Wang Linxi Li Yanlin Ma Handan Hu Qi Li Yang Yang Wenbang Liu Shuming Yin Wei Li Bin Fu Ryo Kurita Yukio Nakamura Mingyao Liu Yongrong Lai Dali Li 
partially supported by grants from the National Key R&D Program of China(2019YFA0110802,2019YFA0802800);Major Science and Technology Program of Hainan Province(ZDKJ2017007);the National Natural Science Foundation of China(81670470,81873685);grants from the Shanghai Municipal Commission for Science and Technology(18411953500);the Innovation program of Shanghai Municipal Education Commission(2019-01-07-00-05-E00054);the Fundamental Research Funds for the Central Universities.
Dear Editor,Mutations in the β-globin gene,the essential component of adult hemoglobin(HbA;a2p2),results in either a production of aberrant sickle hemoglobin(HbS)leading to sickle cell disease(SCD)or an insufficient ...
关键词:IMPAIRED FETAL ANEMIA 
Retinal Damage of Hemoglobinopathies in Adults: About 181 Cases in Campus-Teaching Hospital of Lomé
《Open Journal of Ophthalmology》2017年第3期153-157,共5页Nidain Maneh Koffi Didier Ayena Kossi Brice Dzidzinyo Kokou Vonor Komi Patrice Balo 
Aims: To study the frequency of sickle cell retinopathy and its severity. Material and Methods: Retrospective study over a period of 3 years (July 2013 thru June 2016) of cases of adults over 18 years old sent by the ...
关键词:HEMOGLOBINOPATHY SICKLE Cell RETINOPATHY Adult Lomé 
Cation-exchange high-performance liquid chromatography for variant hemoglobins and HbF/A2:What must hematopathologists know about methodology?
《World Journal of Methodology》2016年第1期20-24,共5页Prashant Sharma Reena Das 
Cation-exchange high-performance liquid chromatography(CE-HPLC) is a widely used laboratory test to detect variant hemoglobins as well as quantify hemoglobins F and A2 for the diagnosis of thalassemia syndromes. It's ...
关键词:Anemia Diagnosis HEMATOLOGICAL disorders HEMATOPATHOLOGY Hemoglobin HEMOGLOBINOPATHIES High-performance liquid chromatography Laboratory instrumentation Red blood cells THALASSEMIA 
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