Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion [0.03%]
TNRC6B相关神经发育障碍表型谱系的扩展：一例22q13.1缺失三世家庭的研究
Jessica Archer,Sheridan O&#x;Donnell,Melissa Buckman et al.
Jessica Archer et al.
Background:TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised ...
Case Reports
Genes. 2026 Apr 15;17(4):464. DOI:10.3390/genes17040464 2026
Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients [0.03%]
多发骨骺发育不良的异同：22例患者中的遗传特征和自然病程
Hasan Emir Taner,Dilek Uludağ Alkaya,Ayşe Kalyoncu Uçar et al.
Hasan Emir Taner et al.
Background/Objectives: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare t...
A CRISPR-Based Mutagenesis Strategy for Examining CLAG3 Helix 44 Contribution to Malaria Parasite Nutrient Uptake Channels [0.03%]
基于CRISPR的突变策略：检测CLAG3螺旋44对疟原虫营养摄取通道的贡献
Zabdi Gonzalez-Chavez,Mansoor A Siddiqui,Sundar Ganesan et al.
Zabdi Gonzalez-Chavez et al.
Background: Malaria parasites import essential nutrients from plasma into their host erythrocytes through the plasmodial surface anion channel (PSAC), a conserved ion and nutrient channel on the infected cell surface. A parasite-encoded ter...
Multi-Omics Analyses Identify ANLN as a Prognostic Biomarker for Recurrence and Metastasis in Non-Small Cell Lung Cancer [0.03%]
多组学分析鉴定出ANLN可作为非小细胞肺癌复发和转移的预后生物标志物
Haiwei Quan,Zhiguang Xu,Lizhen Huo et al.
Haiwei Quan et al.
Background: Lung cancer recurrence and metastasis are major causes of cancer-related mortality, but the molecular determinants underlying these processes remain incompletely understood. This study aimed to identify key re...
Genomic Landscape, Targeted Therapies, and Mechanisms of Resistance in Molecularly Selected Metastatic Colorectal Cancer Patients [0.03%]
晚期结直肠癌分子选择性治疗的基因组谱系、靶向疗法及其抗药机制
Patricia Garcia Pastor,Nadia Saoudi González,Francesc Salva et al.
Patricia Garcia Pastor et al.
Metastatic colorectal cancer (mCRC) remains one of the leading causes of cancer-related mortality worldwide despite substantial therapeutic improvements over the past two decades. Advances in the understanding of colorectal tumor biology an...
A Novel CFA3 Locus Encompassing KCNIP4 Is Associated with Idiopathic Epilepsy in Siberian Huskies [0.03%]
与西伯利亚雪橇犬原发性癫痫相关的新型CFA3位点包含KCNIP4基因
Tracy A Smith,Leon Potisk
Tracy A Smith
Background/Objectives: Idiopathic epilepsy is a lifelong neurologic disorder in dogs, but its genetic basis remains incompletely understood in many breeds. This study aimed to identify risk-associated markers in Siberian Huskies, quantify t...
Integrative Analysis and Experimental Validation Identify Potential m6A-Related Biomarkers for Osteoporosis [0.03%]
整合分析和实验验证识别出潜在的m6A相关骨质疏松生物标志物
Zhenyang Wang,Yongqin Chen,Yuxuan Yang et al.
Zhenyang Wang et al.
Background: This study investigates the role of N6-methyladenosine (m6A) regulators in osteoporosis (OP) and their interplay with the immune microenvironment, aiming to identify potential m6A-related biomarkers for OP ris...
Functional and Expression Studies of iPSC-Derived Cardiomyocytes Carrying a Novel HCM-Associated MYPN Genetic Variant [0.03%]
携带新型肥厚型心肌病相关MYPN基因变异的诱导性多能干细胞源性心脏细胞的功能和表达研究
Elena V Dementyeva,Ekaterina S Klimenko,Margarita Y Sorokina et al.
Elena V Dementyeva et al.
Background/Objectives: Variants of MYPN, encoding a sarcomeric protein myopalladin, are associated with different types of cardiomyopathies and myopathies. However, the molecular mechanisms of MYPN-associated pathologies are still poorly un...
DNA Recovery Using Different Extraction Kits and Cotton Swabs in Forensic DNA Analysis [0.03%]
用于法医DNA分析的不同的提取试剂盒和棉签的DNA提取研究
Ghassan Ali Salih,Martina Nilsson,Marie Allen
Ghassan Ali Salih
Background: It is essential to recover as much DNA as possible from evidence samples to ensure optimal DNA analysis in forensic casework. However, both DNA collection and purification procedures cause a substantial loss of genetic material....
Morphological and Cyto-Nuclear Conflicting Signals Across Non-Sister Lineages in Darkling Beetles (Tenebrionidae: Akis) [0.03%]
拟步行虫属(Akis)暗黑步甲非姊妹类群中的形态和细胞核信号冲突分析
Pilar Jurado-Angulo,Ernesto Recuero,José L Ruiz et al.
Pilar Jurado-Angulo et al.
Background/Objectives: Cyto-nuclear discordances, resulting from the independent evolutionary histories of cytoplasmic and nuclear genomes, often obscure phylogenetic inference and species delimitation, particularly at shallow taxonomic lev...