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>>

The abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome: 《Genes & Diseases》2025年第3期4-6,共3页Fudan Wu Mingjie Li Xuan Zhou Qianyun Wang Yan’an Wu; supported by the Fujian Provincial Health Technology Project(China)(No.2023QNA016);the Guidance in Medical and Health Program of Xiamen,China(No.3502Z20209120);Scientific Research Foundation for Advanced Talents,Xiang’an Hospital of Xiamen University(China)(No.PM201809170018).; Mutations in fibrillin-1 gene(FBN1)have been shown to be associated with Marfan syndrome and most FBN1 mutations display missense or nonsense.Recently,reports on synonymous mutation-related diseases have attracted wid...; 关键词：Marfan syndrome marfan syndrome splicing regulation abnormal splicing synonymous mutation synonymous mutations FBN saccharomyces cerevisiae

Gastrointestinal stromal tumors with an uncommon primary mutation responded well to imatinib: 《Cancer Pathogenesis and Therapy》2025年第2期176-178,共3页Gilani Shahid Mujeeb Qudsia Ikram Naima Khir Ibrahim; Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract,driven by mutations in the proto-oncogene c-KIT or platelet-derived growth factor alpha(PDGFRA)gene in 85%-90%...; 关键词：exon mutation mesenchymal tumors tyrosine kinase inhibitor tki gastrointestinal stromal tumors IMATINIB partial response gastrointestinal stromal tumors gists

CCNO mutation as a cause of primary ciliary dyskinesia:A case report被引量：1: 《World Journal of Clinical Cases》2022年第25期9148-9155,共8页Yun-Yan Zhang Yan Lou Han Yan Hao Tang; BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly...; 关键词：Primary ciliary immobility disorder CCNO gene Whole exon gene sequencing Clinical profiles Review of literature Case report

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

Activity and bioavailability of tepotinib for leptomeningeal metastasis of NSCLC with MET exon 14 skipping mutation被引量：5: 《Cancer Communications》2021年第1期83-87,共5页Hisashi Tanaka Kageaki Taima Tomonori Makiguchi Junichi Nakagawa Takenori Niioka Sadatomo Tasaka; Tepotinib is a key drug for cancer patients with mesenchymal-epithelial transition receptor tyrosine kinase proto-oncogene(MET)exon 14 skipping mutation.However,its bioavailability in the cerebrospinal fluid(CSF)in hu...; 关键词：cerebrospinal fluid IC50 leptomeningeal metastasis MET exon 14 skipping mutation non-small cell lung carcinoma performance status PHARMACOKINETICS tepotinib

Mutation of the KIT Gene, excluding Exon 11, in Gastrointestinal Stromal Tumors: 《Biomedical and Environmental Sciences》2020年第5期369-373,共5页LIU Qiu Yu KONG Ling Fei XU Zi Gung LI Zhen XUE Huan Zhou; supported by grants from the Henan Health Science and Technology Project[201702149]。; Gastrointestinal stromal tumors(GISTs)are derived from the interstitial cells of Cajal,and are the most common mesenchymal tumors of the gastrointestinal tract[1].KIT proto-oncogene,receptor tyrosine kinase(KIT),and p...; 关键词：excluding Exon 11 in Gastrointestinal Stromal Tumors Mutation of the KIT Gene KIT

Is exon mutation analysis needed for adjuvant treatment of gastrointestinal stromal tumor?被引量：1: 《World Journal of Gastroenterology》2013年第1期144-146,共3页Mehmet Ali Nahit Sendur Nuriye Yildirim zdemir Muhammed Bülent Akinci Dogan Uncu Nurullah Zengin Sercan Aksoy; Gastrointestinal stromal tumors(GISTs) are the most common soft tissue sarcoma of the gastrointestinal tract,resulting from an activating mutation of stem cell factor receptor(KIT),and an activating mutation of the ho...; 关键词：IMATINIB Gastrointestinal stromal tumor Activating MUTATION Stem cell FACTOR RECEPTOR PLATELET-DERIVED growth FACTOR RECEPTOR alpha MUTATION analysis

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China被引量：5: 《Chinese Medical Journal》2011年第20期3358-3361,共4页LIN Yu-ying WEI Ai-hua ZHOU Zhi-yong ZHU Wei HE Xin LIAN Shi; This study was supported in part by grants from the Natural Science Foundation of Beijing （No. 7092040）, the Capital Medical Development Foundation （No. 2007-3111）, and the National Natural Science Foundation of China （No. 31071252）.; Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence,...; 关键词：oculocutaneous albinism type 1 MUTATION TYR gene EXON HOMOZYGOUS

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

Deletion and Mutation of WWOX Exons 6-8 in Human Non-small Cell Lung Cancer被引量：2: 《Journal of Huazhong University of Science and Technology(Medical Sciences)》2005年第2期162-165,共4页周玉龙徐永健张珍祥; Summary: To examine the deletion and point mutation of WWOX (WW domain containing oxidoreductase) exons 6-8 in human non-small cell lung cancer and their possible relationship with pathological stages, tumor tissues ...; 关键词：non-small cell lung cancer WWOX gene EXON point mutation RT-PCR cDNA-sequencing

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