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MUTATION: 作品数：1526被引量：3956H指数：24; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：唐晓文陈立波王蜜赵亮任卫波更多>>; 相关机构：复旦大学浙江大学中国人民解放军总医院苏州大学更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划国家高技术研究发展计划中国博士后科学基金更多>>

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

Hepatitis B virus genotype distribution and mutation patterns:Insights and clinical implications for hepatitis B virus positive patients: 《World Journal of Experimental Medicine》2025年第2期72-82,共11页Manisha M Ratnaparkhi Chanda R Vyawahare Nageswari R Gandham; Hepatitis B virus(HBV)infection is still a major worldwide health concern,contributing to chronic liver disorders like hepatocellular carcinoma(HCC).This review comprehensively analyzes HBV genotype distribution,mutat...; 关键词：Chronic hepatitis Viral resistance Antiviral therapies Disease progression Personalized treatment

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

MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy:A case report and review of literature: 《World Journal of Clinical Cases》2025年第15期22-31,共10页Ying Hong Zhen Fan Yi Guo Hui-Hui Ma Sheng-Zhi Zeng Hu-Tao Xi Jing Yang Kai Luo Rong Luo Xiao-Ping Li; Supported by National Natural Science Foundation of China,No.81770379.; BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress ...; 关键词：Dilated phase of hypertrophic cardiomyopathy PEDIGREE MYH7 gene Missense mutation Literature review Case report

A rare case of MELAS syndrome caused by mitochondrial DNA m.3256C>T mutation in China: 《World Journal of Emergency Medicine》2025年第2期180-182,共3页Xiangxin Zheng Man Huang; Mitochondrial cytopathies are characterized by energy failure within the cellular system.These disorders exhibit a wide range of clinical presentations and are highly heterogeneous.The mitochondrial diseases include m...; 关键词：MELAS EPILEPSY clinical

The first Chinese case with LCAEOD syndrome caused by mutation of TUBB4B gene: 《International Journal of Ophthalmology(English edition)》2025年第4期753-756,共4页Yan-Ling Long Xiao Liu Gang Wang Bo Liu Xiao-Hong Meng Yong Liu; Supported by the National Natural Science Foundation of China(No.82271132).; Dear Editor,Leber congenital amaurosis with early-onset deafness syndrome(LCAEOD,OMIM 617879)is a rare autosomal dominant syndromic disease that was first described in 2017.The TUBB4B gene,encoding the betatubulin 4B ...; 关键词：LEBER LCA EOD

A barley SS2a single base mutation at the splicing site leads to obvious changes in starch: 《Journal of Integrative Agriculture》2025年第4期1359-1371,共13页Bang Wang Jing Liu Xiaolei Chen Qiang Xu Yazhou Zhang Huixue Dong Huaping Tang Pengfei Qi Mei Deng Jian Ma Jirui Wang Guoyue Chen Yuming Wei Youliang Zheng Qiantao Jiang; supported by the Major Program of National Agricultural Science and Technology of China(NK20220607);the Sichuan Science and Technology Program,China(2023YFH0041)。; Starch biosynthesis is a complex process that relies on the coordinated action of multiple enzymes.Resistant starch is not digested in the small intestine,thus preventing a rapid rise in the glycemic index.Starch synt...; 关键词：BARLEY EMS mutagenesis starch synthase 2a splicing site mutation starch property resistant starch

Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient:A case report: 《World Journal of Clinical Cases》2025年第10期35-39,共5页Yan-Feng Wu Yan Huang Bao-Hui Weng Shan Deng Li-Ya Pan Zhen Li; BACKGROUND Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired.Hereditary thrombophilia may arise from various gene mutations,some of which have ...; 关键词：Arg596Gln Belgrade mutation THROMBOPHILIA PROTHROMBIN Case report

Characteristics and therapeutic strategies for familial gastrointestinal stromal tumors: 《World Journal of Gastrointestinal Oncology》2025年第3期13-18,共6页Yuan Liu Xiao-Feng Li; National Natural Science Foundation of China,No.82370569;Basic and Applied Basic Research Foundation of Guangdong Province,No.2022A1515012647;the Key Program for Science and Technology Projects of Social Development in Zhuhai,No.2220004000249(to Li XF).; This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patients wi...; 关键词：Gastrointestinal stromal tumors KIT mutation Platelet-derived growth factor receptor alpha mutation Wild-type gastrointestinal stromal tumor Tyrosine kinase inhibitors Familial gastrointestinal stromal tumor syndromes Molecular characteristics Targeted therapy

Penile metastasis from colon cancer with BRAF_(V600E)mutation treated with BRAF/MEK-targeted therapy plus cetuximab:A case report: 《World Journal of Gastrointestinal Oncology》2025年第3期402-409,共8页Jun-Chen Wu Hua-Xi Cheng Qiu-Sheng Lan He-Yang Xu Yu-Jie Zeng Wei Lai Zhong-Hua Chu; National Natural Science Foundation of China,No.81871981;Natural Science Foundation of Guangdong Province,No.2022A1515012348 and No.2023A1515010457.; BACKGROUND The incidence of colon cancer has been progressively increasing over time,whereas penile metastasis of colon cancer has remained exceedingly uncommon.Since the prognosis for colon cancer with BRAF_(V600E)mu...; 关键词：Colon cancer Penile metastasis BRAF_(V600E)mutation Targeted therapy Case report

MUTATION