MedScience最新文献_第5页

Essential genetic mutations impair DNA damage repair and modulate tumor immune microenvironment in ccRCC. 关键基因突变影响DNA损伤修复，调节肿瘤免疫微环境。

MedScience Pub Date : 2026-04-01 Epub Date: 2026-05-26 DOI: 10.1007/s11684-025-1136-4

Hongchao He, Xian-De Liu, Eric Jonasch

引用次数: 0

Lactate-driven lysine lactylation in tumor progression, therapy resistance, and prognosis. 乳酸驱动的赖氨酸乳酸化在肿瘤进展、治疗抵抗和预后中的作用。

MedScience Pub Date : 2026-04-01 Epub Date: 2026-04-30 DOI: 10.1007/s11684-026-1212-4

Dan Huang, Lan Jiang, Qihui Zhao, Zhe Chen

引用次数: 0

Hepatitis B virus infection or reactivation and HBV-related liver dysfunction in patients with inflammatory bowel disease receiving infliximab: a nationwide real-world study. 在接受英夫利昔单抗治疗的炎症性肠病患者中，乙型肝炎病毒感染或再激活和hbv相关的肝功能障碍：一项全国性的现实世界研究

MedScience Pub Date : 2026-04-01 Epub Date: 2026-05-06 DOI: 10.1007/s11684-026-1208-0

Rongbei Liu, Tingting Wu, Jian Tang, Hongjie Zhang, Yanyun Fan, Haibo Sun, Chen Xie, Qunyan Zhou, Hongzhen Xu, Yabi Zhu, Mei Ye, Xiaomin Shi, Feng Tian, Haiyan Shen, Dan Xu, Ying Zhou, Qian Cao

{"title":"Hepatitis B virus infection or reactivation and HBV-related liver dysfunction in patients with inflammatory bowel disease receiving infliximab: a nationwide real-world study.","authors":"Rongbei Liu, Tingting Wu, Jian Tang, Hongjie Zhang, Yanyun Fan, Haibo Sun, Chen Xie, Qunyan Zhou, Hongzhen Xu, Yabi Zhu, Mei Ye, Xiaomin Shi, Feng Tian, Haiyan Shen, Dan Xu, Ying Zhou, Qian Cao","doi":"10.1007/s11684-026-1208-0","DOIUrl":"10.1007/s11684-026-1208-0","url":null,"abstract":"Infliximab (IFX) for inflammatory bowel disease (IBD) treatment may increase the risk of hepatitis B virus (HBV) reactivation, particularly in areas with high HBV prevalence such as China. This study aimed to evaluate HBV reactivation/infection, liver dysfunction, vaccination efficacy and strategies in IBD patients undergoing IFX therapy. This retrospective, multicenter study included 4183 IBD patients from 15 hospitals across China, who were divided into six groups according to the HBV status. Demographic features, HBV vaccination status, reactivation/infection rates, and liver dysfunction outcomes were collected, with data collection performed from 2009 to 2022. We found that HBV reactivation rate was notably higher in HBsAg positive group than other groups (P < 0.05) despite antiviral treatment. Although only 29% of patients were immunized at IFX initiation and almost no patients got vaccinated against HBV during IFX treatment, no patients experienced HBV infection in the susceptible population group. The study underscores a critical need for rigorous HBV screening before IFX initiation. Despite antiviral prophylaxis, the importance of continuous monitoring of HBV DNA is necessary for HBsAg positive patients. HBsAg negative patients, including the susceptible population, had a very low risk of new HBV infection, thus reassuring patients and physicians of the safety of IFX in this cohort.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"301-310"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147849389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study. X染色体终末期肾病相关位点的鉴定：一项全X染色体相关性研究

MedScience Pub Date : 2026-04-01 Epub Date: 2026-05-26 DOI: 10.1007/s11684-026-1205-3

Xiaohong Zhou, Dianchun Shi, Ming Li, Yibin Liu, Zhiming Ye, Wei Chen, Meng Wang, Dongying Fu, Yanna Wang, Hua Gan, Ping Fu, Xiaojun Tan, Yaozhong Kong, Jihong Chen, Jinghong Zhao, Xueqing Yu, Jianjun Liu

{"title":"Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.","authors":"Xiaohong Zhou, Dianchun Shi, Ming Li, Yibin Liu, Zhiming Ye, Wei Chen, Meng Wang, Dongying Fu, Yanna Wang, Hua Gan, Ping Fu, Xiaojun Tan, Yaozhong Kong, Jihong Chen, Jinghong Zhao, Xueqing Yu, Jianjun Liu","doi":"10.1007/s11684-026-1205-3","DOIUrl":"10.1007/s11684-026-1205-3","url":null,"abstract":"X-chromosomal genetic variants have been understudied in end-stage renal disease (ESRD), which holds the promise to provide valuable insights into sexually dimorphic traits and diseases. Here we performed an X chromosome-wide association study (XWAS) in a Chinese cohort (N = 2750), comprising 1489 cases with ESRD and 1261 controls, to identify locus associated with ESRD risk. One locus showing a consistent effect direction across sex but primarily supported by the male cohort was identified in COL4A5 (P = 2.43 × 10-6) in the metaanalysis combining summary statistics from the sex-stratified XWAS. COL4A5 codes for the alpha chain of type IV collagen, which is essential for the integrity of the glomerular basement membrane and normal glomerular function. Two male-specific loci, MIR3202-2 (P = 6.85 × 10-5) and SYTL4 (P = 1.71 × 10-5), were identified in the sex-stratified XWAS in males, and expression of SYTL4, TSPAN6, NOX1, CSTF2, and PCDH19 was found to be influenced by the ESRD loci near SYTL4 based on expression quantitative trait loci (eQTL) results from the Genotype-Tissue Expression (GTEx) project. In summary, our findings revealed three X-chromosome loci linked to ESRD risk, which provided foundational knowledge for genetic risk prediction and advanced our understanding of the molecular underpinnings of ESRD.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"367-381"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148039276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vascular and musculoskeletal interactions: structure, function, and therapeutic strategies for sarcopenia and osteoporosis. 血管和肌肉骨骼的相互作用：肌肉减少症和骨质疏松症的结构、功能和治疗策略。

MedScience Pub Date : 2026-04-01 Epub Date: 2026-05-16 DOI: 10.1007/s11684-026-1204-4

Liming Zheng, Ke Zhao, Xu Wang, Tianxiao Feng, Ning Liu, Linghui Li, Liguo Zhu, Xu Wei

{"title":"Vascular and musculoskeletal interactions: structure, function, and therapeutic strategies for sarcopenia and osteoporosis.","authors":"Liming Zheng, Ke Zhao, Xu Wang, Tianxiao Feng, Ning Liu, Linghui Li, Liguo Zhu, Xu Wei","doi":"10.1007/s11684-026-1204-4","DOIUrl":"10.1007/s11684-026-1204-4","url":null,"abstract":"Muscle and bone, key tissues that maintain the body's structure and function, are closely connected via mechanical and biochemical interactions. The vascular system plays a crucial role in musculoskeletal health, not only by providing nutrients and oxygen but also by regulating growth, regeneration, and metabolism. This review systematically examines the vascular structure and function of the musculoskeletal system, and explores the complex biochemical signaling networks involving myokines, osteokines, and vascular-derived factors. Vascular dysfunction is a key contributor to the pathogenesis of degenerative diseases like sarcopenia (SP) and osteoporosis (OP), making vascular-targeted therapies a promising approach for their treatment. Potential strategies for restoring vascular health include molecular targeting, exercise training, nutritional supplementation, cardiovascular pharmacotherapy, hormone therapies, and tissue engineering-all of which may help slow aging-related musculoskeletal degeneration. Despite significant research progress, challenges remain in the clinical translation of these interventions. Future research should focus on elucidating the molecular mechanisms of muscle-bone-vascular interactions and exploring innovative tissue engineering techniques. This review provides a comprehensive understanding of the dynamic interactions between muscle, bone, and vascular systems, highlighting the importance of vascular health in musculoskeletal disease management, and proposes novel vascular-targeted approaches for the prevention and treatment of musculoskeletal disorders.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"247-267"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147960662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Paligenosis: dual potential of mature cell plasticity in regeneration and tumorigenesis. Paligenosis：成熟细胞可塑性在再生和肿瘤发生中的双重潜力。

MedScience Pub Date : 2026-02-01 Epub Date: 2026-02-14 DOI: 10.1007/s11684-025-1197-4

Fan Xue, Yue Liang, Yi-Fu Miao, Che Liu, Zhi-Feng Miao, Zhen-Ning Wang

{"title":"Paligenosis: dual potential of mature cell plasticity in regeneration and tumorigenesis.","authors":"Fan Xue, Yue Liang, Yi-Fu Miao, Che Liu, Zhi-Feng Miao, Zhen-Ning Wang","doi":"10.1007/s11684-025-1197-4","DOIUrl":"10.1007/s11684-025-1197-4","url":null,"abstract":"Paligenosis is an emerging model of mature cell plasticity that enables terminally differentiated cells to re-enter the cell cycle and contribute to tissue regeneration following injury. This tightly regulated process involves an initial phase of autophagy-mediated organelle clearance coupled with mechanistic target of rapamycin complex 1 (mTORC1) suppression, followed by mTORC1 reactivation and stemness gene induction that establishes regenerative competence, ultimately culminating in proliferation and lineage restoration. While paligenosis provides an adaptive mechanism to rapidly replenish lost cells in tissues such as the stomach and pancreas, persistent activation under chronic stress or oncogenic signals may drive metaplasia and tumor initiation. Recent evidence further implicates paligenosis-like programs in cancer progression, metastasis, and therapy resistance, underscoring its dual roles in regeneration and disease. Ongoing investigation into the molecular circuitry of paligenosis-including metabolic rewiring, canonical signaling, and epigenetic remodeling-may yield new insights into both tissue repair and oncogenic transformation, offering novel opportunities for therapeutic targeting.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"78-93"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mono-ubiquitination of histone H2A lysine 119 (H2AK119Ub): its multifaceted role in biology and implication in diseases. 组蛋白H2A赖氨酸119 （H2AK119Ub）的单泛素化：其在生物学中的多方面作用及其在疾病中的意义。

MedScience Pub Date : 2026-02-01 Epub Date: 2026-04-01 DOI: 10.1007/s11684-026-1209-z

Damu Wu, Haiqing Zhong, Ling Cai, Gang Greg Wang

{"title":"Mono-ubiquitination of histone H2A lysine 119 (H2AK119Ub): its multifaceted role in biology and implication in diseases.","authors":"Damu Wu, Haiqing Zhong, Ling Cai, Gang Greg Wang","doi":"10.1007/s11684-026-1209-z","DOIUrl":"10.1007/s11684-026-1209-z","url":null,"abstract":"Mono-ubiquitination of histone H2A at lysine 119 (H2AK119Ub) is deposited by the Polycomb repressive complex 1 (PRC1) and represents an abundant post-translational modification (PTM) of histones. H2AK119Ub is crucially involved in the regulation of a wide range of biological processes, including organization of the genome into distinct functional domains, gene silencing, and the maintenance of cell identities during development, among others. Biochemically, the deposition and removal of H2AK119Ub are tightly controlled in cells owing to a dynamic balance between the specific \"writers\" (i.e., PRC1) and \"erasers\" (i.e., deubiquitinases (DUBs) such as BAP1 and USP16). Furthermore, the increasing evidence establishes a notion that H2AK119Ub serves as a signal for recruiting specific \"readers\" (such as JARID2, DNMT3A, RYBP, SSX, and RSF1), which elicit the critical downstream effects such as modulating gene transcription, maintaining genome integrity, and shaping cell identity. This H2AK119Ub-based signaling is often perturbed in human diseases, pointing to a connection between its dysregulation and pathological development. This review is aimed at providing a timely, in-depth analysis of the molecular machinery governing H2AK119Ub, its interactions with other chromatin factors, and its causal role in the onset and progression of diseases, notably cancer.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"3-22"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations. 伴有FANCA突变的范可尼贫血家系中外阴畸形的差异遗传分析。

MedScience Pub Date : 2026-02-01 Epub Date: 2026-02-14 DOI: 10.1007/s11684-026-1202-6

Jian-Hui Zhang, Zi-Yan Xu, Hong-Ping Yu, Ruo-Li Wang, Juan Zhu, Zhen-Bo Geng, Li Chen, Dan-Dan Ruan, Fang-Meng Huang, Mei-Zhu Gao, Yun-Fei Li, Xi-Kui Zhang, Li Zhang, Zhu-Ting Fang, Li-Sheng Liao, Xiao-Ling Zheng, Bin Hu, Jie-Wei Luo

{"title":"Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.","authors":"Jian-Hui Zhang, Zi-Yan Xu, Hong-Ping Yu, Ruo-Li Wang, Juan Zhu, Zhen-Bo Geng, Li Chen, Dan-Dan Ruan, Fang-Meng Huang, Mei-Zhu Gao, Yun-Fei Li, Xi-Kui Zhang, Li Zhang, Zhu-Ting Fang, Li-Sheng Liao, Xiao-Ling Zheng, Bin Hu, Jie-Wei Luo","doi":"10.1007/s11684-026-1202-6","DOIUrl":"10.1007/s11684-026-1202-6","url":null,"abstract":"Fanconi anemia (FA; OMIM: 227650) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and cancer predisposition. While FANCA mutations account for most FA cases, phenotypic overlap with other disorders complicates diagnosis. This study analyzes molecular diagnostic pathways for FANCA-related FA and establishes a hereditary differential diagnosis for ectrodactyly. A Chinese FA family clinical phenotype was collected. The proband and father underwent whole-genome sequencing. Copy number variations (CNVs) in FANCA were assessed by genomic qPCR. Functional characterization of the EHMT1 variant included minigene splicing assays, RT-qPCR and Western blotting on peripheral blood samples. The proband showed pancytopenia and bone marrow hypoplasia, suggesting aplastic anemia. Sequencing analysis identified two FANCA mutations, NM_000135.4: c.154C>T and NC_000016.9: g.89865477_89895212del, which caused partial protein deletion. Subsequent pedigree analysis revealed that the affected individuals of the proband's paternal lineage, who exhibited ectrodactyly, were heterozygous for the EHMT1 c.2382 + 1750G>A variant (NM 024757.5) and showed significantly reduced EHMT1 mRNA expression, demonstrating complete genotype-phenotype co-segregation. Furthermore, Western blot revealed reduced H3K9me2 and decreased intensity of a ∼100 kDa EHMT1-reactive band in the proband's father. The newly identified g.89865477_89895212del mutation enriches the FANCA gene mutant spectrum. Additionally, the EHMT1 c.2382 + 1750G>A variant co-segregates with ectrodactyly and is accompanied by significantly reduced EHMT1 mRNA expression.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"173-185"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

mRNA vaccines in cancer immunotherapy: current progress and perspectives in solid tumors and hematologic malignancies. mRNA疫苗在肿瘤免疫治疗中的应用：目前在实体瘤和血液恶性肿瘤中的进展和前景。

MedScience Pub Date : 2026-02-01 Epub Date: 2026-04-01 DOI: 10.1007/s11684-026-1210-6

Niu Qiao, Jing-Xian Chen, Yan Liu, Zhu Chen, Sai-Juan Chen

{"title":"mRNA vaccines in cancer immunotherapy: current progress and perspectives in solid tumors and hematologic malignancies.","authors":"Niu Qiao, Jing-Xian Chen, Yan Liu, Zhu Chen, Sai-Juan Chen","doi":"10.1007/s11684-026-1210-6","DOIUrl":"10.1007/s11684-026-1210-6","url":null,"abstract":"The unprecedented success of mRNA vaccines during the COVID-19 pandemic has accelerated the development of nucleic acid-based therapeutics, particularly in oncology. Decades of foundational research on mRNA design, delivery, and immunogenicity have laid the groundwork for the application of mRNA vaccines in cancer treatment. Herein, we summarize the key principles of synthetic mRNA engineering, including the optimization of structural elements, nucleoside modification, and codon usage to improve stability, enhance translation efficiency, and modulate immune responses. We highlight diverse antigen strategies, including tumor-associated antigens; neoantigens; and novel sources, such as cryptic antigens, aberrant splicing variants, and transposable element-derived antigens. We discuss delivery platforms, particularly lipid nanoparticles (LNPs) and dendritic cell-based systems, in the context of improving mRNA biodistribution and immune activation. We further examine how mRNA vaccines stimulate antitumor responses by encoding antigens, modulating the tumor microenvironment, and supporting adoptive T cell therapies. We review preclinical and clinical advances in combining mRNA vaccine with immune checkpoint inhibitors for the treatment of solid tumors (e.g., melanoma, pancreatic cancer, and glioblastoma) and hematologic malignancies (e.g., acute myeloid leukemia, myelodysplastic syndrome, and multiple myeloma). Finally, we explore emerging innovations, such as targeted LNP platforms for in vivo chimeric antigen receptor T/T cell receptor T engineering and artificial intelligence-assisted vaccine design, underscoring the transformative potential of mRNA technology in cancer immunotherapy.","PeriodicalId":521275,"journal":{"name":"MedScience","volume":" ","pages":"23-58"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diffuse large B-cell lymphoma combined with hyperlactatemia presents high mortality: case report and literature review. 弥漫性大b细胞淋巴瘤合并高乳酸血症死亡率高：病例报告及文献复习。

MedScience Pub Date : 2026-02-01 Epub Date: 2026-02-14 DOI: 10.1007/s11684-025-1199-2

Yu Jiao, Jingwen Zhang, Xiaojing Yan, Na Lin

引用次数: 0