A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin [0.03%]
NIPBL 5-UTRCornelia de Lange综合征突变通过下调RAD21和β-catenin降低体外模型细胞增殖
Qingqing Chen,Yonghua Chen,Chaochun Zou et al.
Qingqing Chen et al.
Cornelia de Lange Syndrome (CdLS) is a prevalent chromatinopathy, frequently caused by mutations in genes encoding cohesin complex components, with NIPBL being the most commonly affected. The present study aimed to investigate the effects o...
Prevalence and risk factors of obstructive sleep apnea in patients with unexplained dizziness: A real-world study [0.03%]
不明原因头晕患者阻塞性睡眠呼吸暂停的患病率及危险因素：一项真实世界研究
Norapat Limsirorat,Sitta Suntrawanichakul,Watchara Boonsawat et al.
Norapat Limsirorat et al.
Obstructive sleep apnea (OSA) is a globally prevalent sleep disorder linked to a wide range of systemic conditions, including cardiovascular and vestibular dysfunction. Dizziness is frequently encountered in clinical practice but underexplo...
Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report [0.03%]
基因组测序识别出2号染色体短臂的单亲二体和ABCG5同源突变，使此前治疗抵抗长达13年的儿童高胆固醇血症得到有效治疗——病例报告
Hannah Kassaie,Chanatjit Cheawsamoot,Sunisa Kanchanasutthiyakorn et al.
Hannah Kassaie et al.
Sitosterolemia is a rare inherited disorder caused by mutations in ABCG5 or ABCG8 genes, resulting in abnormal accumulation of phytosterols. Clinically, it often resembles familial hypercholesterolemia (FH), which is much more common. The p...
Case Reports
Biomedical reports. 2025 Sep 17;23(5):178. DOI:10.3892/br.2025.2056 2025
Hyperthyroidism with reference to elevated serum FT3 and FT4 levels in patients with ischemic stroke [0.03%]
与血清FT3、FT4水平升高相关的卒中患者甲亢状态研究
Xianjing Zhang,Honghu Wu,Gaofeng Wang et al.
Xianjing Zhang et al.
Ischemic stroke and hyperthyroidism are common diseases and may be associated with each other. The aim of the present study was to investigate whether patients with hyperthyroidism are at risk of developing ischemic stroke, whilst also expl...
Exon 4 and intron 4 TP53 are both methylated in advanced-stage ovarian carcinomas [0.03%]
晚期卵巢癌中TP53的外显子4和内含子4均发生甲基化
Wiktor Szewczuk,Oksana Szewczuk,Krzysztof Czajkowski et al.
Wiktor Szewczuk et al.
Although intragenic CpG dinucleotides are conserved during evolution, they are also sensitive to methylation-dependent mechanisms. Methylation status of the TP53 introns 1, 3 and 4 have been analysed in stage III ovarian carcinoma (OC). In ...
Pro-angiogenic potential of the isoxazole derivative ISO-1 via α7-nAChRs activation in human endothelial cells [0.03%]
异噁唑衍生物ISO-1通过活化人血管内皮细胞α7烟碱型乙酰胆碱受体发挥促血管生成的潜力
Hilda Espinoza,Gabriel Vallejos,Michel Lapier et al.
Hilda Espinoza et al.
Angiogenesis is essential for tissue growth and repair, but its dysregulation is associated with various pathological conditions, such as cancer and ischemic disease. Non-neuronal α7-nicotinic acetylcholine receptors (α7-nAChRs) mediate a...
Association between miRNA expression profiles and polymorphisms of dihydropyrimidine dehydrogenase drug-metabolizing gene in patients with colorectal cancer receiving 5-fluorouracil [0.03%]
尿嘧啶二聚体脱氢酶代谢基因多态性与结直肠癌氟尿嘧啶治疗患者的微小核糖核酸表达谱关联分析
Phatchariya Phannasil,Phichai Chansriwong,Ekaphop Sirachainan et al.
Phatchariya Phannasil et al.
5-Fluorouracil (5-FU) is widely used for colorectal cancer (CRC) treatment. Its administration is challenged by wide variability in patient toxicity. Genetic polymorphisms in dihydropyrimidine dehydrogenase (DYPD) and circulating microRNAs ...
Impact of vascular risk factors on endovascular mechanical thrombectomy outcomes in patients with stroke [0.03%]
血管危险因素对卒中患者血管内机械取栓效果的影响
Walaa A Aldarwish,Shahid Bashir,Eman Mohammed Ali et al.
Walaa A Aldarwish et al.
Endovascular mechanical thrombectomy (MT) is a recommended treatment for acute ischemic stroke due to large vessel occlusion (LVO). The objective of the present study was to evaluate the impact of vascular risk factors on the outcome of MT ...
Puerariae radix flavones induce apoptosis in bladder cancer T24 cells via the FAS/TNFR1 pathway: A potential therapeutic candidate [0.03%]
葛根异黄酮通过FAS/TNFR1途径诱导膀胱癌T24细胞凋亡：一种潜在的治疗候选药物
Jing Dong,Yupeng Guo,Tao Ji et al.
Jing Dong et al.
Puerariae radix flavones (PRFs), bioactive components derived from the Pueraria lobata plant, exhibit anti-inflammatory and anti-tumor properties. However, their therapeutic potential for bladder cancer remains poorly understood. The presen...
Intraoperative electrocorticography in focal drug-resistant epilepsy: A 10-year retrospective single-center study [0.03%]
难治性局灶性癫痫术中超脑电图的10年单中心回顾性研究
Amani Alshahrani,Ziyad Mohammed Althani,Raidah Al-Baradie et al.
Amani Alshahrani et al.
Intraoperative electrocorticography (ECoG) represents a crucial tool for improving seizure outcomes during epilepsy surgeries by assisting in localization of the epileptogenic zones. There is a shortage of information in the literature rega...