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MUTATIONS: 作品数：699被引量：1983H指数：18; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：余永国梁玉婷王莹吴建华李娅更多>>; 相关机构：复旦大学北京协和医院河北医科大学华中农业大学更多>>; 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北京市自然科学基金中国博士后科学基金更多>>

Impact of Zika virus non-structural protein mutations on hippocampal damage: 《Neural Regeneration Research》2025年第8期2307-2308,共2页Larissa M.G.Cassiano Roney S.Coimbra; supported by INOVA Fiocruz;INCT Vacinas(to RSC)。; The Zika virus(ZIKV),a member of the Flaviviridae family,attracted worldwide attention for its connection to severe neurological effects,notably microcephaly in newborns,first reported during the 2015 epidemic in Braz...; 关键词：DAMAGE FETAL NEONATAL

Metastatic pancreatic cancer with activating BRAF V600E mutations:A case report: 《World Journal of Clinical Cases》2025年第16期52-59,共8页Fang Li Feng Shen; Supported by Clinical Research Center for Precision Medicine of Abdominal Tumor of Fujian Province.; BACKGROUND Pancreatic cancer(PC)is a highly malignant tumor that is resistant to chemotherapy,radiotherapy and immunotherapy.Combination chemotherapy regimens are the standard first-line regimens for metastatic diseas...; 关键词：Pancreatic cancer BRAF gene mutation Targeted therapy Prognosis Case report

Reference diagnosis and treatment process of juvenile hemochromatosis patients: 《World Journal of Clinical Cases》2025年第15期63-65,共3页Yan-Chun He Nan-Xue Wang Tao Zhong; The compelling case report by Xie et al,published in a renowned medical journal,is an excellent example of meticulous clinical evaluation,comprehensive labo-ratory testing,advanced imaging,and genetic analysis.The aut...; 关键词：Juvenile hemochromatosis Hemojuvelin gene MUTATIONS Clinical evaluation Laboratory testing IMAGING Genetic analysis

Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3:Diagnosis,therapeutic strategies: 《World Journal of Diabetes》2025年第4期310-313,共4页Heng-Li Lai Liu Yang; This article reviews a paper in the World Journal of Diabetes.The study uncovers the link between PPARG gene mutations and metabolic disorders,such as insulin resistance,diabetes,and hypertriglyceridemia,and emphasize...; 关键词：Familial partial lipodystrophy type 3 Genetic testing Metabolic disorders Personalized treatment

Diagnosis and treatment of lung cancer:A molecular perspective: 《World Journal of Clinical Oncology》2025年第3期1-7,共7页Yuan Xiong Long Cheng Yu-Jie Zhou Wei-Hong Ge Ming Qian Hui Yang; This editorial comments on the review by Da Silva et al,published in the World Journal of Clinical Oncology which focuses on the molecular perspectives of lung cancer.With the rapid development of molecular technology...; 关键词：Lung cancer MOLECULAR Oncogenic mutations Biomarkers Liquid biopsy Targeted therapy IMMUNOTHERAPY

Combined therapy of a case of multiple venous malformation with FLT4 gene mutation: 《Chinese Journal of Plastic and Reconstructive Surgery》2025年第1期18-22,共5页Yang Yang Ningyuan Gao Ming Ren Lu Wang Zixu Gao Rongkui Luo Chuanyuan Wei Jianying Gu; supported by the National Natural Science Foundation of China(grant no.82272891).; As the study of vascular anomalies progresses,it is imperative for plastic surgeons to individualize their in-depth research and practice to develop more effective and personalized treatment plans.Recent advancements ...; 关键词：Multiple venous malformations Whole-exome sequencing FLT4 mutations

Nexilin mutations,a cause of chronic heart failure:A state-of-the-art review starting from a clinical case: 《World Journal of Cardiology》2025年第3期12-24,共13页Oana-Cornelia Năstasie Dan-Andrei Radu Sebastian Onciul Marian-Bogdan Drăgoescu Nicoleta-MonicaPopa-Fotea; Heart failure(HF)is a medical condition associated with high morbidity and mortality,despite ongoing advances in diagnosis and treatment.Among the various causes of HF,cardiomyopathies are particularly significant and...; 关键词：Heart failure Genetic cardiomyopathies Dilated cardiomyopathy Nexilin gene G650del nexilin variant

Analysis of mutations in Chinese patients with polycystic kidney disease by targeted exome sequencing: 《Genes & Diseases》2025年第1期49-51,共3页Kaili Qin Qian Wang Jianbo Qing Yaheng Li Hao Gong Zhijian Zha Bingrui Zhou Yafeng Li; funded by the National Science Foundation of China(No.82170716,81870333,82100821);the Key Laboratory Construction Plan Project of Shanxi Provincial Health Commission(China)(No.2020SYS01);the Key Project of Shanxi Provincial Health Commission(China)(No.2020XM21);the Key Research and Development Project of Shanxi Province,China(No.201903D321086).; In recent years,molecular diagnostics has become pivotal in the detection of polycystic kidney disease(PKD).1 Nevertheless,given the extensive genomic architecture,allelic heterogeneity,and dispersed mutations in affi...; 关键词：KIDNEY DIAGNOSIS CLINICAL

Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23: 《Genes & Diseases》2025年第1期76-79,共4页Qianqian Li Yang Yang Ranran Li Chenguang Yu Kaidi Ren Yin Feng Xing Chen Yi Luan Xiangdong Kong; supported by the National Natural Science Foundation of China(No.82000321,31900502);Henan Educational Committee Program for Science and Technology Development of Universities(China)(No.22A310022,24A320017);Natural Science Foundation of Henan,China(No.212300410275);Henan Medical Science and Technology Joint Building Program(China)(No.LHGJ20190229,LHGJ20190236,and LHGJ20230283);the Medical Science and Technology Research Project of Henan Province(No.SBGJ202103079,SBGJ202302045).; Combined oxidative phosphorylation deficiency 23(COXPD23,MIM#616198)is a rare autosomal-recessive mitochondrial disorder with variable disease severity ranging from death in early infancy to survival into the second d...; 关键词：OXIDATIVE clinical CARDIOMYOPATHY

Thermal stress concentration points and stress mutations in nano-multilayer film structures: 《Communications in Theoretical Physics》2025年第1期179-189,共11页Ying Zheng Zhi You Wang Qianju Song Zao Yi Shubo Cheng Can Ma Chaojun Tang Qingdong Zeng Sohail Ahmad; the support of the National Natural Science Foundation of China(Grant Nos.51606158,11604311 and 12074151);the Guangxi Science and Technology Base and Talent Special Project(Grant No.AD21075009);the Sichuan Science and Technology Program(Grant No.2021JDRC0022);the Open Fund of the Key Laboratory for Metallurgical Equipment and Control Technology of Ministry of Education in Wuhan University of Science and Technology,People's Republic of China(Grant Nos.MECOF2022B01 and MECOF2023B04);the Guangxi Key Laboratory of Precision Navigation Technology and Application,Guilin University of Electronic Technology(Grant No.DH202321)。; In the multilayer film-substrate system,thermal stress concentration and stress mutations cause film buckling,delamination and cracking,leading to device failure.In this paper,we investigated a multilayer film system ...; 关键词：multilayer structure thermal stress concentration point stress mutation CHAMFER intermediate layer

MUTATIONS