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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>>

Cryptic exon inclusion in TDP-43 proteinopathies:opportunities and challenges: 《Neural Regeneration Research》2025年第7期2003-2004,共2页Lorena Decker Sonja Menge Axel Freischmidt; supported by the Deutsche Forschungsgemeinschaft(DFG;grant#521487152)(to AF)。; TDP-43 proteinopathies and cryptic exons:Transactive response DNA binding protein of 43 kDa(TDP-43)is a ubiquitously expressed RNA/DNA binding protein crucial for coding and non-coding RNA metabolism including transcr...; 关键词：HUNTINGTON METABOLISM TDP

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

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

The fourth exon confers antagonistic activity of OsMFT1 and OsMFT2 in rice pre-harvest sprouting: 《The Crop Journal》2025年第1期135-144,共10页Jialing Zhang Fei Liu Yang Kuang Ming Luo Chengcai Chu Fan Xu; supported by the National Natural Science Foundation of China(32172059);Fundamental Research Funds for the Central Universities(SWUXDJH202315).; Pre-harvest sprouting(PHS)describes the germination of physiologically mature grains in spikes prior to harvest in cereal crops.PHS could seriously decrease grain yield and quality,which makes it a major constraint to...; 关键词：RICE Pre-harvest sprouting PEBP MFT

Dysregulated inclusion of BOLA3 exon 3 promoted by HNRNPC accelerates the progression of esophageal squamous cell carcinoma: 《Frontiers of Medicine》2024年第6期1035-1053,共19页Bo Tian Yan Bian Yanan Pang Ye Gao Chuting Yu Xun Zhang Siwei Zhou Zhaoshen Li Lei Xin Han Lin Luowei Wang; supported by Shanghai Science and Technology Innovation Action Program(No.21Y31900100).; Dysregulated RNA splicing events produce transcripts that facilitate esophageal squamous cell carcinoma(ESCC)progression,but how this splicing process is abnormally regulated remains elusive.Here,we unveiled a novel a...; 关键词：esophageal squamous cell carcinoma alternative splicing exon skipping BOLA3 HNRNPC

CRISPR/Cas9-mediated NlInR2 mutants:Analyses of residual mRNA and truncated proteins: 《Journal of Integrative Agriculture》2024年第6期2006-2017,共12页Jun Lü Jingxiang Chen Yutao Hu Lin Chen Shihui Li Yibing Zhang Wenqing Zhang; the National Natural Science Foundation of China(31730073).; CRISPR/Cas9 technology is a powerful genome manipulation tool in insects.However,little is known about whether mRNA and protein of a target gene are completely cleared in homozygous mutants.This study generated homozy...; 关键词：CRISPR/Cas9 Nilaparvata lugens residual mRNA skipping exon truncated protein

Truncated SCRIB isoform promotes breast cancer metastasis through HNRNP A1 mediated exon 16 skipping: 《Acta Pharmacologica Sinica》2023年第11期2307-2321,共15页Bin Zhang Shao-han Xie Jun-yi Hu Si-jia Lei Liang-hua Shen Hong-tao Liu Qing Zheng Zhi-ming Zhang Chun-lian Wu Qiang Li Feng Wang; supported by the Guangzhou Basic and Applied Basic Research Project(to FW);Natural Science Foundation of Guangdong Province(NO.2022A1515012636);High-level University Construction Project and 2019 Ministry of Education“Chunhui Plan”Cooperative Scientific Research Project(NO.131).; Breast cancer is one of the most common malignant tumors with high mortality due to metastases. SCRIB, a scaffold protein mainly distributed in the cell membrane, is a potential tumor suppressor. Mislocalization and a...; 关键词：breast cancer scribble planar cell polarity protein(SCRIB) HnRNP A1 alternative splicing invasion ASO-SCRIB

Sonic hedgehog signaling:Alternative splicing and pathogenic role in medulloblastoma被引量：2: 《Genes & Diseases》2023年第5期2013-2028,共16页Meiyu Qu Qiangqiang He Jiahao Luo Tingyu Shen Ruibo Gao Yana Xu Chengyun Xu Muhammad Qasim Barkat Ling-Hui Zeng Ximei Wu; supported by the National Natural Science Foundation of China(No.31571493,81741043,31871395,82000046,and 32170841).; Alternative splicing(AS)produces the different mRNA splicing bodies,which are then translated into multiple protein isoforms and participate in various biological functions.With a deeper understanding of alternative s...; 关键词：Alternative splicing EXON Hedgehog signaling MEDULLOBLASTOMA Tumor suppressor

Townes–Brocks syndrome with adult renal impairment in a Chinese family:A case report: 《World Journal of Clinical Cases》2023年第23期5567-5572,共6页Jing Wu Jun Zhang Tang-Li Xiao Ting He; Supported by Joint Medical Project of Science and Technology Commission of Chongqing,No.2021MSXM164.; BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible ...; 关键词：Townes-Brocks syndrome SALL1 Renal impairment PEDIGREE Whole exon sequencing Case report

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