云南高校图书馆联盟文献共享服务平台- EXON

EXON: 作品数：161被引量：414H指数：11; 导出分析报告; 相关领域：医药卫生生物学更多>>; 相关作者：贾天军赵铁军张庶民李萍金鑫燕更多>>; 相关机构：河北北方学院中国药品生物制品检定所青海大学南京军区福州总医院更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家高技术研究发展计划河北省自然科学基金国家科技支撑计划更多>>

Significance of monitoring imatinib plasma concentration in secondline treatment decisions for c-kit 11 gene-mutated gastrointestinal stromal tumors: 《World Journal of Gastrointestinal Oncology》2025年第3期81-90,共10页Hai-Tao Li Yun-Yun Du Zhen Huang Jin-Jin Li Jun Zhang; BACKGROUND For patients with advanced gastrointestinal stromal tumors(GISTs)carrying the ckit exon 11 mutation,imatinib(IM)at a standard dosage of 400 mg per day is the preferred first-line treatment.In cases where tr...; 关键词：Gastrointestinal stromal tumor C-kit exon 11 IMATINIB Plasma concentration Second-line treatment

Association of Haplotypes in Exon 4 of KLK2 Gene with Raised Serum Prostate-Specific Antigen: 《American Journal of Molecular Biology》2023年第1期57-66,共10页Innocent S. I. Ogbu Ogochukwu A. Nwankwo Chinemere C. Ogbu Emmanuel Nna Kingsley K. Anya Malachy O. Odoh David C. Obasi; The standard diagnostic modalities for Prostate Cancer (PC) include serum Prostate-Specific Antigen (PSA) assay, Digital Rectal Examination (DRE), and histological examination of prostate biopsy. They are limited by l...; 关键词：Prostate Cancer Prostate-Specific Antigen Kallikrein 2 Gene Genetic Mutations Haplotypes Short Nucleotidepolymorphism

Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report: 《World Journal of Clinical Cases》2021年第19期5226-5231,共6页Mi Yang Ru-Xin Xing; the Medical and Health Science and Technology Program of Zhejiang Province,No.2018273034.; BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle disorders.Mutations in the CRPPA gene(encoding CDPLribitol pyrophosphorylase A)are recognized as cau...; 关键词：Congenital muscular dystrophy CRPPA MUTATION Dystroglycanopathy Case report

New Gene Therapy Strategies for the Deletion of Exon 44 of Dystrophin Gene Based on Gene Editing by TALENs: 《Open Journal of Medicinal Chemistry》2013年第1期1-6,共6页Ping Li Yunzhi Pan Alice S. S. Li Aijuan Sun Jia Zhang H. L. Gao Pierre Sirois Kai Li; Duchenne Muscular Dystrophy (DMD) is a severe childhood form of muscular dystrophy. Both the severe form and its milder form of Becker Muscular Dystrophy (BMD) are caused by the mutation of dystrophin gene. Different ...; 关键词：TALENs DMD GENE Therapy EXON SKIPPING

Clinical manifestations and gene mutation in a case of Machado-Joseph disease被引量：1: 《Neural Regeneration Research》2012年第35期2842-2847,共6页Bin Zhang Liru Li Longxing Chen Jie Huang; funded by Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101,2011-110; This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission sh...; 关键词：machado-Joseph disease clinical characteristics IMAGING molecular genetics spinocerebellarataxia-3 gene gene mutation exon 10 spinocerebellar ataxia nervous system disease

R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B被引量：5: 《Chinese Medical Journal》2009年第23期2840-2845,共6页YUAN Wo-liang HUANG Chun-yan WANG Jing-feng XIE Shuang-lun NIE Ru-qiong LIU Ying-mei LIU Pin-ming ZHOU Shu-xian CHEN Su-qin HUANG Wei-jun; This study was supported by the grant from Natural Science Foundation of Guangdong Province, China, 2005 （No. 5001673）.; Background Mutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy （DCM）, conduction system defects and skeletal muscle dystrophy. Here we report a family with a mutation of the ...; 关键词：lamin A/C dilated cardiomyopathy limb-girdle muscular dystrophy MUTATION sudden death

Polymorphism Detection of the Twelfth Exon of Equine MxA Gene被引量：1: 《Agricultural Science & Technology》2009年第1期85-88,共4页菊林花金花呼都特; Supported by the Natural Science Foundation of Inner Mongolia Au-tonomous Region (200508010413)~~; [Objective] The study aimed to establish a fast and accurate method to detect the polymorphism of the 12^th exon of equine MxA gene. [Method] The 12^th exon of MxA gene was amplified by mismatch PCR and the products w...; 关键词：HORSE MxA gene POLYMORPHISM

Polymorphism Analysis of the Thirteenth Exon of Equine MxA Gene被引量：3: 《Agricultural Science & Technology》2008年第6期25-26,77,共3页萨仁高娃菊林花; Supported by Natural Science Foundation of Inner Mongolia Autonomous Region(200508010413)~~; [Objective] To investigate the polymorphism of the thirteenth exon of MxA gene in 4 species of horse. [Method] The thirteenth exon of MxA gene fragments were amplified from genomic DNA of Sanhe horse, Xinihe horse, Wu...; 关键词：HORSE MXA GENE Polymorphism PCR-SSCP

Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene被引量：11: 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2006年第11期887-891,共5页ZHANG Qin YANG Yun-mei LV Xue-ying; Objective: To investigate the association of Graves’ disease and Graves’ ophthalmopathy with the C/T transition polymorphism at position –318 of promoter and the A/G transition polymorphism at position 49 of exon 1...; 关键词：Graves＇ ophthalmopathy Cytotoxic T lymphocyte associated antigen-4 （CTLA-4） gene Gene frequency Susceptibility gene

Role of the intracellular receptor domain of gp130 (exon 17) in human inflammatory bowel disease: 《World Journal of Gastroenterology》2005年第8期1196-1199,共4页Christoph J.Auernhammer Kathrin Zitzmann Fabian Schnitzler Julia Seiderer Peter Lohse George Vlotides Dieter Engelhardt Michael Sackmann Burkhard G(o|¨)ke Thomas Ochsenkühn; Supported by the Department of Clinical Chemistry - Grosshadem, Ludwig-Maximilians-University; AIM: To study the role of the intracellular receptor domain of gp130 in human inflammatory bowel disease (IBD).METHODS: We amplified and sequenced the complete exon 17 of the human gp130 gene in 146 patients with IBD....; 关键词：Exon 17 Inflammatory bowel disease gp130 gene

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