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...
Genetic link between metabolic syndrome and coronary artery disease: Insights from genome-wide cross-trait analysis [0.03%]
代谢综合征与冠状动脉疾病之间的遗传联系：来自全基因组交叉性状分析的见解
Pengcheng Yi,Quanting Yin,Huanhuan Zhang et al.
Pengcheng Yi et al.
Metabolic syndromes (MeS), marked by central obesity, high blood pressure, abnormal cholesterol and blood sugar, are key cardiovascular disease (especially coronary artery disease, CAD) risk factors. Genetic studies show MeS-CAD genetic ove...
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies [0.03%]
异质性PMP22队列的比较表型分析：持续性走路踢趾与经典的PMP22相关神经病学
David Pomarino,Kevin M Rostásy,Bastian Fregien et al.
David Pomarino et al.
Background: The Peripheral Myelin Protein 22 (PMP22) gene plays a central role in peripheral nerve myelination, and dosage alterations (deletion, duplication, or point mutation) are established causes of hereditary neurop...
Genetic susceptibility of IKZF1, ARID5B, and CEBPE polymorphisms to childhood acute lymphoblastic leukemia in Chinese populations: a case-control study [0.03%]
中国人群IKZF1、ARID5B和CEBPE基因多态性与儿童急性淋巴细胞白血病易感性的病例对照研究
Xiaoqing Cao,Yong Wang,Yurou Kang et al.
Xiaoqing Cao et al.
Objective: This study aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children. ...
A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review [0.03%]
PRKACB新变异与双侧后复指及宫内生长受限一例及相关文献复习
Yan Zhang,Wenlong Shen,Yaer Lv et al.
Yan Zhang et al.
Objective: To characterize the clinical features of a fetus with postaxial polydactyly caused by a de novo PRKACB gene variant and to perform a genetic analysis. ...
Global comprehensive transcriptomic and proteomic analyses of murine terminal erythroid differentiation [0.03%]
小鼠终末期红细胞分化转录组和蛋白质组的全面分析
Xiao-Yue Tang,Jia-Huan Chen,Ran Yang et al.
Xiao-Yue Tang et al.
Background: Terminal erythroid differentiation (TED) is the maturation process of proerythroblasts into enucleated erythrocytes. Animal models are essential for studying red blood cell disorders. ...
Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study [0.03%]
小儿PMP22相关神经病持久性踮脚走路的显著特征：一项回顾性队列研究
David Pomarino,Kevin M Rostásy,Bastian Fregien et al.
David Pomarino et al.
Purpose: Persistent toe walking in children is often considered idiopathic; however, increasing evidence suggests that alterations in the PMP22 gene-implicated in Charcot-Marie-Tooth disease type 1 A (CMT1A) and Hereditar...
Targeting non-coding RNAs to overcome resistance and improving outcomes in glioblastoma [0.03%]
靶向非编码RNA克服胶质母细胞瘤耐药性及改善预后的研究
Dhruv Parikh,Manan Shah
Dhruv Parikh
Glioblastoma (GB) remains the most aggressive and treatment-resistant primary brain tumor, characterized by extensive heterogeneity, therapeutic resistance, and dismal prognosis. In this comprehensive review, we aimed to synthesize emerging...