STIM1 as an Early Predictive Biomarker for Acute Respiratory Distress Syndrome (ARDS) and Its Potential Mechanisms [0.03%]
STIM1作为预测急性呼吸窘迫综合征的早期标志物及其潜在机制研究
Shuping Deng,Qi Wu,Dan Zhou et al.
Shuping Deng et al.
Acute respiratory distress syndrome (ARDS) mainly results in severe respiratory failure and significant morbidity. This study decisively investigated the effectiveness and clinical importance of stromal interaction molecule 1 (STIM1) mRNA a...
Integrative Genomic Analysis Identifies MAGT1 as a Key Regulator of Proliferation and Poor Prognosis in Breast Cancer [0.03%]
整合基因组分析确定MAGT1是乳腺癌增殖及预后不良的关键调节因子
Liwen Zhao,Zhe Song
Liwen Zhao
Objective: Magnesium transporter 1 (MAGT1) plays a crucial role in magnesium homeostasis and immune regulation, yet its clinical significance and functional role in breast cancer remain largely unexplored. ...
A Combined Transcriptomic and Machine Learning Study Reveals PAX8 as a Promising Diagnostic Biomarker in Endometriosis [0.03%]
结合转录组学和机器学习研究发现PAX8可作为子宫内膜异位症有前途的诊断生物标志物
Xiaoli Zhu,Li Zhong,Yanlin Xu et al.
Xiaoli Zhu et al.
Background: Endometriosis (EM) is a chronic, estrogen-dependent disease that lacks reliable noninvasive diagnostic biomarkers. This study was aimed at evaluating the diagnostic value of PAX8 using integrated transcriptomi...
A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family [0.03%]
中国一家族中SAMD9基因突变(c.2423A>G)导致MIRAGE综合征并宫内生长受限及肾发育不全的病例报告
Yuxin Huang,Jiahui Fu,Zhongzhi Gan et al.
Yuxin Huang et al.
Background and aims: MIRAGE syndrome is an autosomal-dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through...
Case Reports
Human mutation. 2026 Apr 17:2026:9470286. DOI:10.1155/humu/9470286 2026
SPP1 as a Critical Regulator of Cardiac Cell Reprogramming Following Myocardial Infarction Through Single-Cell Transcriptomic Analysis [0.03%]
单细胞转录组分析发现SPP1通过调节心梗后的表观遗传学改变成为心血管再生的关键因素
Rui Wang,Man Zhang,Xiaojun Liu et al.
Rui Wang et al.
Background: Cardiovascular mortality remains predominantly driven by acute myocardial infarction (AMI), necessitating comprehensive elucidation of mechanisms governing cardiomyocyte reprogramming for therapeutic advanceme...
A Pan-Cancer Atlas of TIPE2 Identifies Its Association With the Tumor Immune Microenvironment, Prognosis, and Immunotherapeutic Potential [0.03%]
TIPE2的泛癌症图谱鉴定其与肿瘤免疫微环境、预后及免疫治疗潜力的关系
Hui Cao,Wenyu Jia,Hao Yang et al.
Hui Cao et al.
The tumor microenvironment (TME) plays a pivotal role in tumorigenesis, progression, and metastasis. Tumor necrosis factor alpha-induced protein 8-like 2 (TNFAIP8L2; TIPE2), a member of the TIPE family, is a key regulator of immune homeosta...
PAPPA2 c.392G>C Heterozygous Mutation Associates Primary Open-Angle Glaucoma in a Chinese Family [0.03%]
家系研究发现PAPPA2基因杂合突变c.392G>C与原发性开角型青光眼发病相关
Gang Wang,Zilu Guo,Jing Ren et al.
Gang Wang et al.
Approximately 60% of glaucoma patients have a family history. Family-based studies indicate that relatives of glaucoma patients have a 10-fold higher risk of developing glaucoma compared to the control population. Genetic mutations have bee...
Shuangshen Granule Regulates Tumor Cell Exosomes Through MIF-miR-34a-KLF4 Pathway and Affects Macrophage Polarization Against Lung Cancer [0.03%]
双神颗粒通过MIF-miR-34a-KLF4信号通路调节肿瘤细胞外泌体以抑制肺癌免疫微环境中的M2型巨噬细胞极化作用研究
Runzhi Qi,Yi Li,Zhongning He et al.
Runzhi Qi et al.
The incidence and mortality of lung cancer are among the highest in the world, involving a variety of complex pathological mechanisms and processes. Previous studies have demonstrated that the tumor immunosuppressive microenvironment (TIME)...
Targeting LY6E Inhibits Neuroblastoma Progression and Suppresses M2 Macrophage Polarization [0.03%]
靶向LY6E抑制神经母细胞瘤进展并抑制M2型巨噬细胞极化
Lijuan Li,Yu Zeng,Qinfen Zhang et al.
Lijuan Li et al.
Neuroblastoma is a pediatric malignancy characterized by significant clinical heterogeneity. Although MYCN amplification is a well-established marker of high-risk disease, its interplay with the tumor immune microenvironment-particularly tu...
ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins [0.03%]
双胞胎婴儿低磷性佝偻病中的显性负效应ALPL突变
Luna Hao,Na Huang,Yilun Tao et al.
Luna Hao et al.
Background and aims: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue-nonspecific alkaline phosphatase (ALP) activity. We investigated genotype-pheno...
Case Reports
Human mutation. 2026 Apr 15:2026:9913394. DOI:10.1155/humu/9913394 2026