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Cellular Heterogeneity and Tissue Specificity in Venous Malformations: Implications for Pathogenesis and Targeted Therapies

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资源类型：
Pubmed体系：
作者：
He Yang[3,4,7] * ; Lin Jian[3,4,6] * ; Li Yi[5] ; Zeng Weixing[3,4] ; Li Yongsheng[1,2] ;
机构： [1]Department of Oral and Maxillofacial Surgery, Yunnan First People’s Hospital, Kunming, Yunnan, 650032, China [2]The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, 650032, China [3]Yunnan Key Laboratory of Stomatology, Kunming Medical University, Kunming, Yunnan, 650500, China [4]The Affiliated Stomatology Hospital of Kunming Medical University, Kunming, Yunnan, 650031, China [5]The 920th Hospital of the Joint Logistic Support Force of the Chinese People’s Liberation Army, Kunming, Yunnan, 650100, China [6] Kunming Stomatological Hospital North City District Branch, 650231, China [7]Shiyan Key Laboratory of Comprehensive Prevention and Treatment of Oral Cancer, Department of Stomatology, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, 442000, China
出处：
DOI： 10.1016/j.pbiomolbio.2025.06.002
ISSN：

关键词： Venous malformations Cerebral cavernous malformations Tissue specificity Cellular heterogeneity Artery Vein Genetic mutations

摘要：
Venous malformations (VMs) are common vascular anomalies characterized by abnormal endothelial cell proliferation, a paucity of vascular wall cells, and irregular vascular structures. While pathogenic gene mutations are the genetic basis of VMs, the cellular heterogeneity, tissue specificity, and underlying mechanisms remain poorly understood. VMs are increasingly recognized as vascular anomalies with tumor-like mechanisms, highlighting the critical roles of cellular heterogeneity and tissue specificity in pathogenesis.This review systematically examines recent advances in VMs research, focusing on cellular heterogeneity and tissue specificity. It summarizes key mutated genes, the roles of various cell types, and their interactions within lesions. By comparing physiological differences between arteries and veins, we explore the tissue-specific origins of VMs. Additionally, we evaluate current cellular and animal models, discussing their strengths and limitations in simulating pathological features, including cellular heterogeneity and tissue specificity.The development of VMs is strongly linked to genetic mutations in endothelial cells and functional alterations in endothelial progenitor and vascular wall cells. Lesion tissues exhibit significant heterogeneity in cell function, gene/protein expression, and signal transduction. Tissue specificity is influenced by differences in environmental factors, tissue structure, and gene expression between arteries and veins, explaining why VMs predominantly affect veins.VMs development involves interactions among pathogenic gene mutations, cellular heterogeneity, and tissue specificity. Understanding these mechanisms will elucidate VMs pathogenesis and inform precision therapies. Future research should focus on cell-type interactions, the role of tissue specificity in disease progression, and developing targeted therapeutic strategies.Copyright © 2025. Published by Elsevier Ltd.

基金：
the Famous Doctor Special Project of the Ten Thousand Talents Program of Yunnan Province, China (Grant No.YNWR-MY-2019-024); the Academician Expert Workstation Program under the Science and Technology Talent and Platform Plan of Yunnan Province, China (Grant No. 202305AF150044); and the Graduate Education Innovation Fund of Kunming Medical University, China (Grant No. 2024S229).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2025]版：
无
最新[2025]版：
大类 | 3 区 生物学
小类 | 2 区 生物物理 3 区 生化与分子生物学
第一作者：
第一作者机构： [3]Yunnan Key Laboratory of Stomatology, Kunming Medical University, Kunming, Yunnan, 650500, China [4]The Affiliated Stomatology Hospital of Kunming Medical University, Kunming, Yunnan, 650031, China [7]Shiyan Key Laboratory of Comprehensive Prevention and Treatment of Oral Cancer, Department of Stomatology, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, 442000, China
共同第一作者：
通讯作者：
通讯机构： [1]Department of Oral and Maxillofacial Surgery, Yunnan First People’s Hospital, Kunming, Yunnan, 650032, China [2]The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, 650032, China
推荐引用方式(GB/T 7714)：
He Yang,Lin Jian,Li Yi,et al.Cellular Heterogeneity and Tissue Specificity in Venous Malformations: Implications for Pathogenesis and Targeted Therapies[J].Progress In Biophysics And Molecular Biology.2025,doi:10.1016/j.pbiomolbio.2025.06.002.
APA：
He Yang,Lin Jian,Li Yi,Zeng Weixing&Li Yongsheng.(2025).Cellular Heterogeneity and Tissue Specificity in Venous Malformations: Implications for Pathogenesis and Targeted Therapies.Progress In Biophysics And Molecular Biology,,
MLA：
He Yang,et al."Cellular Heterogeneity and Tissue Specificity in Venous Malformations: Implications for Pathogenesis and Targeted Therapies".Progress In Biophysics And Molecular Biology .(2025)

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