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MUTATIONS: 作品数：712被引量：1988H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

Integrating multi-omics methods for personalized treatment of refractory chronic myelomonocytic leukemia with NRAS and TET2 mutations: 《Cancer Pathogenesis and Therapy》2025年第2期173-175,共3页Chuandong Hou Bo Yang Yue Wang Lili Cai Ran Qin Bo Guo Jie Geng XueChun Lu; supported by the Multi-Center Clinical Research Project of the National Clinical Research Center for Geriatric Diseases(No.NCRCG-PLAGH-20230010);the Key Military Health Project(No.23BJZ25).; Chronic myelomonocytic leukemia(CMML),a rare and malignant hematologic disorder,is classified as a myelodysplastic/myeloproliferative neoplasm(MDS/MPN).1 It poses a significant risk of progression to acute myeloid leu...; 关键词：chronic myelomonocytic leukemia cmml personalized treatment demethylation therapy acute myeloid leukemia refractory chronic myelomonocytic leukemia multi omics Nras mutations Tet mutations

Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis:A case report: 《Genes & Diseases》2025年第3期57-60,共4页Huaiyuan Wang Shengjie Li Weiyun Chen Jianxiong Shen; supported by the National Natural Science Foundation of China(No.82272446).; Titin,the largest known protein in nature,is a giant sarcomeric protein that plays essential architectural,developmental,and regulatory roles in striated muscles.Mutations in the TTN gene(MIM:188840)that encodes titin...; 关键词：compound heterozygous variants muscle diseases giant sarcomeric protein titinopathies SCOLIOSIS striated musclesmutations TITIN

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

The Role of Linker Histone Mutation in Oncogenesis: Molecular Mechanism and Structural Impact: 《BIOCELL》2025年第4期519-538,共20页Gege Liu Houfang Zhang Yunhui Peng; supported by the National Natural Science Foundation of China(No.12205112);financially supported by self-determined research funds of CCNU from the colleges’basic research and operation of MOE(CCNU24JC012);supported by Natural Science Foundation of Wuhan(No.2024040801020302).; Nucleosomes play a vital role in chromatin organization and gene regulation,acting as key hubs that inter-act with various chromatin-associated factors through diverse binding mechanisms.Recent research has highlighte...; 关键词：Linker histone H1 EPIGENETICS histone cancer mutations chromatin structure NUCLEOSOME

Cholestasis in hepatitis E virus infection: 《World Journal of Hepatology》2025年第4期1-6,共6页Tatsuo Kanda Reina Sasaki-Tanaka Takeshi Yokoo Kazunao Hayashi Hiroteru Kamimura Atsunori Tsuchiya Shuji Terai; Supported by the Japan Agency for Medical Research and Development(AMED),No.JP24fk0210132(Kanda T,Sasaki-Tanaka R and Terai S);the JSPS KAKENHI,No.JP23K15055(Sasaki-Tanaka R).; Hepatitis E virus(HEV)infection causes acute hepatitis,chronic hepatitis,particularly in compromised hosts,and various extrahepatic manifestations.HEV infection is reportedly associated with biliary-pancreatic disease...; 关键词：Genomic mutations CHOLESTASIS Farnesoid X receptor Hepatitis E virus JAUNDICE

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

MUTATIONS