Genes & Diseases最新文献

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Investigation of the temporal distribution of anti-VEGF drugs in the retina and the correlation with the distribution of FcR isoforms 抗vegf药物在视网膜的时间分布及其与FcR亚型分布的相关性研究

IF 6.9 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-28 DOI: 10.1016/j.gendis.2025.101698

Jicai He , Yanping Jiang , Rongqin Yang , Ziwen Lu , Zhihuan Li , Zhigang Tu

引用次数: 0

METTL3 promotes esophageal squamous cell carcinoma progression and reduces chemosensitivity to paclitaxel through the CASP9/BIRC3-dependent apoptosis pathway METTL3通过CASP9/ birc3依赖的凋亡途径促进食管鳞状细胞癌的进展并降低对紫杉醇的化疗敏感性

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101693

Pengxiang Ji , Bo Wan , Minghui Gao , Shaohua Yin , Han Wu , Junjie Wang , Yuting Ma , Weihua Xu , Minghua Wang

引用次数: 0

LINC00431 modulates KRAS and p53 stability to drive pancreatic cancer progression under hypoxia LINC00431调节KRAS和p53稳定性，在缺氧条件下驱动胰腺癌进展

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101696

Zhiwei Cai , Meng Liu , Weiyi Wang , Hongfei Yao , Shuo Yang , Chunjing Li , Xiao Hu , Yunlong Pu , Jianxia Ma , Chongyi Jiang

引用次数: 0

An in-depth analysis of the prognostic significance and potential clinical impact of Leupaxin in the immunotherapeutic treatment of esophageal squamous cell carcinoma 深入分析Leupaxin在食管鳞状细胞癌免疫治疗中的预后意义及潜在临床影响

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101695

Fei Teng , Yang Chen , Xiaojuan Zhang , Hai-Ke Lei , Mei He , Wei Wang , Zhi-Qiang Wang , Gui-Xue Wang

引用次数: 0

Immune microenvironment in autosomal dominant polycystic kidney disease 常染色体显性多囊肾病的免疫微环境

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-26 DOI: 10.1016/j.gendis.2025.101694

Cheng Xue , Xinming Li , Chenchen Zhou , Changlin Mei , Zhiguo Mao

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary renal disorder characterized by the progressive development of fluid-filled cysts within the kidneys, leading to renal dysfunction and potentially life-threatening complications. While ADPKD has long been considered a primarily genetic disorder, emerging evidence suggests that the immune microenvironment within the kidney plays a pivotal role in disease progression and severity. This review explored the intricate interplay between immune cells, inflammatory microenvironment, inflammatory pathways, complement system, and ADPKD, shedding light on the various immune components and mechanisms contributing to ADPKD pathogenesis. Key findings suggest that renal immune cell infiltration, inflammation, and the complement system could take part in cyst growth, renal fibrosis, and ADPKD progression. Inflammation, in particular, stands out as a prime candidate for therapeutic intervention. Moreover, recent studies have unveiled the involvement of immune checkpoints, such as PD-1 and its ligand PD-L1, in modulating the immune response within ADPKD kidneys. In conclusion, this review highlights the emerging paradigm shift in the understanding of ADPKD, emphasizing the pivotal role of the immune microenvironment in disease pathogenesis. Targeted therapies aimed at modulating immune responses and addressing immune-related checkpoints may hold promise for the development of novel treatments to improve the clinical outcomes of ADPKD patients.

常染色体显性多囊肾病（ADPKD）是一种常见的遗传性肾脏疾病，其特征是肾脏内积液囊肿的进行性发展，导致肾功能障碍和潜在的危及生命的并发症。虽然ADPKD一直被认为是一种主要的遗传性疾病，但新出现的证据表明，肾脏内的免疫微环境在疾病的进展和严重程度中起着关键作用。本文探讨了免疫细胞、炎症微环境、炎症途径、补体系统与ADPKD之间复杂的相互作用，揭示了多种免疫成分和机制对ADPKD发病机制的影响。关键发现提示肾免疫细胞浸润、炎症和补体系统可能参与囊肿生长、肾纤维化和ADPKD进展。特别是炎症，作为治疗干预的主要候选。此外，最近的研究揭示了免疫检查点，如PD-1及其配体PD-L1，参与调节ADPKD肾脏内的免疫反应。总之，这篇综述强调了对ADPKD理解的新范式转变，强调了免疫微环境在疾病发病机制中的关键作用。靶向治疗旨在调节免疫反应和解决免疫相关检查点可能有望开发新的治疗方法，以改善ADPKD患者的临床结果。

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引用次数: 0

Genetics, epidemiology and management of clubfoot and related disorders 内翻足及相关疾病的遗传学、流行病学和管理

IF 6.9 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-17 DOI: 10.1016/j.gendis.2025.101690

Muhammad Umar , Liping Tong , Hongting Jin , Tamas Terebessy , Di Chen

Clubfoot, medically termed congenital talipes equinovarus (CTEV), is a prevalent musculoskeletal birth defect, affecting approximately 0.3% of all live births. This serious congenital anomaly results from structural abnormalities in the foot and lower leg, leading to abnormal positioning of the ankle and foot joints. This review provides a comprehensive overview of the causative factors associated with CTEV and evaluates current therapeutic approaches. Although variations in genes encoding contractile proteins of skeletal myofibers have been proposed as contributors to the etiology of CTEV, no definitive candidate genes have been conclusively linked to increased risk. However, genes such as TBX4, PITX1, and members of the HOXA, HOXC, and HOXD clusters, as well as NAT2, have been implicated in the condition’s development, playing critical roles in limb development, muscle formation, and tissue differentiation. Also, Axin1 plays a key role in joint formation and skeletal development by inhibiting β-catenin-BMP signaling. It could significantly serve as a therapeutic target for fibular hemimelia and multiple synostoses syndrome. The exact mechanisms and the extent of their physical and genetic interactions remain subjects of ongoing research. Understanding the genetic determinants and cellular pathways involved in CTEV is crucial for unravelling the pathophysiology of this complex deformity.

马蹄内翻足，医学上称为先天性马蹄内翻（CTEV），是一种常见的肌肉骨骼出生缺陷，影响约0.3%的活产婴儿。这种严重的先天性畸形是由足部和小腿的结构异常引起的，导致踝关节和足关节的异常定位。这篇综述提供了与CTEV相关的致病因素的全面概述，并评估了目前的治疗方法。虽然编码骨骼肌纤维收缩蛋白的基因变异被认为与CTEV的病因有关，但没有明确的候选基因与风险增加有决定性的联系。然而，TBX4、PITX1、HOXA、HOXC和HOXD集群成员以及NAT2等基因与该疾病的发展有关，在肢体发育、肌肉形成和组织分化中起着关键作用。此外，Axin1通过抑制β-catenin-BMP信号传导在关节形成和骨骼发育中起关键作用。它可以作为腓骨偏瘫和多发性关节闭锁综合征的治疗靶点。它们的物理和遗传相互作用的确切机制和程度仍然是正在进行的研究的主题。了解CTEV的遗传决定因素和细胞通路对于揭示这种复杂畸形的病理生理学至关重要。

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引用次数: 0

Upregulated Krüppel-like factor 5 promotes hepatocellular carcinoma progression by activating Wnt3a signaling kr<s:1> ppel样因子5的上调通过激活Wnt3a信号通路促进肝细胞癌的进展

IF 6.9 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-15 DOI: 10.1016/j.gendis.2025.101685

Wenli Sai , Jie Yang , Liwei Qiu , Min Xu , Min Yao , Dengfu Yao

引用次数: 0

IL1β is induced in nephronophthisis but does not mediate kidney damage il - 1β在肾纤维化中被诱导，但不介导肾损害

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-14 DOI: 10.1016/j.gendis.2025.101687

Giulia Ferri , Mariyam El Hamdaoui , Joran Martin , E. Wolfgang Kuehn , Frank Bienaimé , Sophie Saunier , Amandine Viau

引用次数: 0

UBR5 regulates the progression of colorectal cancer cells through Snail-induced epithelial–mesenchymal transition UBR5通过蜗牛诱导的上皮-间质转化调节结直肠癌细胞的进展

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-13 DOI: 10.1016/j.gendis.2025.101679

Xinyue Zhao , Ruiying Liu , Zhihui Han , Zehao Li , Ling Mei , Yuyang Liu , Xueqi Fu , Yue Jin

Snail is a core inducer of epithelial-to-mesenchymal transition. Here, we show that UBR5 promotes ubiquitin-mediated degradation of Snail and regulates the progression of colorectal cancer cells through its E3 ubiquitin ligase function. UBR5 specifically binds to Snail in vitro, but not Slug, and its degradation depends on snail phosphorylation. Depletion of endogenous UBR5 causes Snail protein accumulation, epithelial-to-mesenchymal transition, and tumor invasion in colorectal cancer cells. Conversely, the overexpression of UBR5 reduces Snail protein abundance and cellular invasiveness. The activity-deficient mutant UBR5 C2768S disrupts its binding and degradation to Snail, thereby losing the ability to regulate epithelial-to-mesenchymal transition in colorectal cancer cells. UBR5 is lowly expressed in human colorectal cancer versus normal tissues, and high UBR5 levels correlate with favorable prognosis, suggesting that UBR5 sustains the epithelial state and inhibits cancer progression. These findings establish the UBR5-Snail axis as a mechanism of post-translational regulation of epithelial-to-mesenchymal transition and colorectal cancer metastasis.

蜗牛是上皮细胞向间质细胞转化的核心诱导剂。在这里，我们发现UBR5通过其E3泛素连接酶功能促进蜗牛的泛素介导降解并调节结直肠癌细胞的进展。UBR5在体外特异性地与蜗牛结合，但不与蛞蝓结合，其降解依赖于蜗牛的磷酸化。内源性UBR5的缺失导致结直肠癌细胞的Snail蛋白积累、上皮向间质转化和肿瘤侵袭。相反，UBR5的过表达降低了蜗牛蛋白的丰度和细胞侵袭性。缺乏活性的突变体UBR5 C2768S破坏了其与Snail的结合和降解，从而失去了调节结直肠癌细胞上皮到间质转化的能力。与正常组织相比，UBR5在人类结直肠癌中的表达较低，高水平的UBR5与良好的预后相关，表明UBR5维持上皮状态并抑制癌症进展。这些发现证实了UBR5-Snail轴是翻译后调控上皮细胞向间质转化和结直肠癌转移的机制。

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引用次数: 0

CTHRC1 promotes the progression of clear cell renal cell carcinoma via the PI3K/AKT/GSK3β signaling pathway CTHRC1通过PI3K/AKT/GSK3β信号通路促进透明细胞肾细胞癌的进展

IF 9.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases

Pub Date : 2025-05-13 DOI: 10.1016/j.gendis.2025.101688

Wei Xie , Zhouyong Fu , Thomas Skutella , Qing Jiang , Ronggui Zhang , Yuanfeng Zhang

引用次数: 0

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