DNA methylation and exosomes in relation to type 2 diabetes in Black South Africans: A pilot study [0.03%]
与南非黑人2型糖尿病有关的DNA甲基化和外泌体：一项试点研究
Buhle B Mbali,Laverdure T Piame,Sesethu Sehole et al.
Buhle B Mbali et al.
Type 2 diabetes (T2D) is a metabolic disorder characterised by hyperglycaemia, reduced insulin secretion, and increased insulin resistance, yet its mechanisms are not fully understood. While genetic predisposition contributes to the variabl...
Research on the imbalance of metal homeostasis and ferroptosis mechanisms in neurodegenerative diseases [0.03%]
金属稳态失衡和铁死亡介导的神经退行性疾病发病机制研究进展
Peiyun Zhang,Wei Jin,Xinxuan Lyu et al.
Peiyun Zhang et al.
Objective: To investigate the associations between urinary and serum metal levels and neurodegenerative diseases (NGDs) as well as all-cause mortality, and identify research trends through bibliometric. ...
No significant increase in thrombotic risk following the widespread adoption of TPO-RAs in ITP: A comparative study [0.03%]
TPO-RA在ITP中广泛应用并未显著增加血栓风险：一项回顾性队列研究
Yun Wang,Huiyuan Li,Yunfei Chen et al.
Yun Wang et al.
In patients with primary immune thrombocytopenia (ITP), the risk of thrombosis associated with thrombopoietin receptor agonists (TPO-RAs) remains debated. This study compared the thrombosis occurrence in ITP patients before and after the la...
Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4 [0.03%]
新型复合杂合EOGT突变导致的Adams Oliver综合征型4的分子机制研究
Yufei He,Xiangyu Liu,Zongrui Shen et al.
Yufei He et al.
Adams-Oliver Syndrome Type 4 (AOS4) is a rare autosomal recessive disorder primarily characterized by aplasia cutis congenita and cranial defects. Pathogenic variants in several genes, including DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1...
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review [0.03%]
常染色体显性多囊肾病的分子遗传学诊断方法系统评价
Natalie Ciantar,Edith Said
Natalie Ciantar
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder primarily caused by pathogenic variants in PKD1 and PKD2. Although molecular testing has revolutionized diagnosis, v...
Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation [0.03%]
自动化拷贝数变异致病性预测工具能否替代ACMG框架下的人工审核？一项临床验证研究
Yingying Zhang,Xiuming Zhang,Dayang Chen
Yingying Zhang
Background: Copy Number Variation (CNV) is associated with numerous complex diseases, yet their pathogenicity assessment remains heavily dependent on manual expert review, a process that is cumbersome and time-consuming. ...
Regulatory role and subtype analysis of m6A modifications in dermatomyositis [0.03%]
肌炎中m6A修饰的调控作用及亚型分析
Xiang Long,Yidan Hu,Rui Tu et al.
Xiang Long et al.
Background: Dermatomyositis (DM) is an uncommon autoimmune disease that presents challenges due to the lack of reliable biomarkers in clinical practice. Growing evidence suggests that N6-methyladenosine (m6A) is closely a...
Pediatric toe-walking cohort with heterozygous SBF1 variants: A phenotypic description [0.03%]
携带SBF1杂合变异的儿童踮脚走路队列的表型描述
David Pomarino,Amel Sidi Athmane,Bastian Fregien et al.
David Pomarino et al.
Purpose: Persistent toe walking is frequently labeled idiopathic; however, targeted genetic testing in selected cohorts can identify variants in genes implicated in neuromuscular disease. SBF1 is a known cause of autosoma...
Mediating role of the weight-adjusted-waist index in the association between sedentary behavior and depression: A cross-sectional study [0.03%]
久坐行为与抑郁关系中的体重调整腰围指数的中介作用：一项横断面研究
Xinxuan Lyu,Wei Jin,Zhaoshun Lyu et al.
Xinxuan Lyu et al.
Background: Sedentary behavior and obesity are established risk factors for depression. The weight-adjusted-waist index (WWI) is a more accurate obesity measure than body mass index (BMI) or waist circumference (WC). This...
Cannabidiol modulates exosomal miRNA networks to enhance Imatinib mesylate response in chronic myelogenous leukemia [0.03%]
大麻二酚通过调节外泌体mirna网络增强慢性髓性白血病中甲磺酸伊马替尼的疗效
Petar Petrov Donchev,Evelina Yordanova Vasileva,Tsvetelina S Paunova-Krasteva et al.
Petar Petrov Donchev et al.
Background/objectives: Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disease driven by the BCR-ABL1 fusion oncogene. Tyrosine kinase inhibitors (TKIs) such as Imatinib mesylate have dramatically improv...