Clinicopathological and Molecular Features of Primary Inflammatory Myofibroblastic Tumor in Nasal Cavity and Paranasal Sinuses [0.03%]
鼻腔和副鼻窦原发性炎性肌成纤维细胞肿瘤的临床病理和分子特征
Yihua Zhao,Donglin Ma,Hongfei Wan et al.
Yihua Zhao et al.
Background: Inflammatory myofibroblastic tumor (IMT) in the nasal cavity and sinuses is rare and has special clinical and pathological characteristics with poor prognosis. This study aimed to investigate the clinicopathol...
Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening [0.03%]
ALRN外显子剪切变异和新的SLC16A2移码突变引起的所有汉德尼-迪利氏综合征及对携带者筛查的意义
Peng Lin,Huituan Liu,Jiwu Lou et al.
Peng Lin et al.
Background: Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder caused by mutations in the solute carrier family 16-member 2 (SLC16A2) gene. This syndrome leads to significant psychomotor d...
Association of MiRNA Polymorphisms Involved in the PI3K/ATK/GSK3β Pathway with T2DM in a Chinese Population [0.03%]
与中国人PI3K/ATK/GSK3β通路相关的MiRNA基因多态性与T2DM的关联研究
Xing Zhou,Man Yang,Ying Yang et al.
Xing Zhou et al.
Background: Single nucleotide polymorphisms (SNPs) in miRNA genes can influence the expression of miRNAs that modulate the PI3K/AKT/GSK3β pathway and play crucial roles in type 2 diabetes mellitus (T2DM) susceptibility. ...
Pharmacogenomics of Chemotherapies for Childhood Cancers in Africa: A Scoping Review [0.03%]
非洲儿童癌症化疗药物基因组学的范围审查
Deogratias M Katabalo,Stanley Mwita,Antony Cuthbert Liwa et al.
Deogratias M Katabalo et al.
Background: Pharmacogenomics holds significant promise in improving the efficacy and safety of chemotherapy for childhood cancers. However, the field remains underexplored in Africa, where high genetic diversity and subst...
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa [0.03%]
一种新的致病性剪接突变导致颌面耳廓-手指综合征基因OFD1变异，表现为乔布特综合征、额外指和视网膜母细胞病变
Liang Chen,Mei-Fang Zhao,Hui-Wen Deng et al.
Liang Chen et al.
Joubert syndrome (JS) is an infrequent congenital neurodevelopmental ciliopathy, typically identified in children around the average age of 33 months. This disorder is characterized by developmental delay, cognitive impairment, and infantil...
Naoxintong Is Involved in the Coagulation Regulation of Warfarin Through the MAPK Pathway [0.03%]
脑心通通过MAPK途径参与华法林凝血调节作用
Xiao Luo,Ling Chen,Jingsong Xu et al.
Xiao Luo et al.
Objective: To explore the effect of Naoxintong (NXT) on warfarin anticoagulation therapy and its potential mechanism. Methods: TCSMP, S...
Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review [0.03%]
精准公共卫生的药物基因组学工具及对中低收入国家的启示：综合述评
Angélica Borbón,Juan Carlos Briceño,Augusto Valderrama-Aguirre
Angélica Borbón
Pharmacogenomics is the integration of genomics and pharmacology to optimize drug response and reduce side effects. In terms of personalized or individualized medicine, PGx is defined as the identification and analysis of specific genetic v...
Identification of Bacterial Lipopolysaccharide-Associated Genes and Molecular Subtypes in Autism Spectrum Disorder [0.03%]
自闭症谱系障碍中细菌脂多糖相关基因及分子亚型的鉴定
Yuanxia He,Yun He,Boli Cheng
Yuanxia He
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by diverse symptoms affecting social interaction, communication, and behavior. This research aims to explore bacterial lipopolysa...
The Association of PLA2G7 Gene Polymorphisms with Serum Lp-PLA2 Activity and Lipid Profile in Han Chinese Patients with Coronary Heart Disease [0.03%]
汉族冠心病患者血清Lp-PLA2活性和血脂谱型的病例对照研究及PLA2G7基因多态性关联分析
Yanhai Wang,Yupeng Shi,Zhongwei Wu et al.
Yanhai Wang et al.
Purpose: This study aimed to investigate the distribution patterns of PLA2G7 gene variants in Han Chinese patients with coronary heart disease (CHD), and their relationships with serum lipoprotein-associated phospholipase...
The Genetic and Molecular Drivers of Multiple Myeloma: Current Insights, Clinical Implications, and the Path Forward [0.03%]
遗传与分子驱动的多发性骨髓瘤：当前见解、临床意义及未来方向
Meghana Ram,Molly R Fraser,Junia Vieira Dos Santos et al.
Meghana Ram et al.
Background: Multiple myeloma (MM) is a hematological malignancy characterized by the clonal proliferation of malignant plasma cells within the bone marrow. The disease's complexity is underpinned by a variety of genetic a...