TLR4 and RB1 as the Identified Lactate-Related Genes to Predict the Diagnostic Performance, Gene Regulatory Network, and Targeting Drugs in Depression [0.03%]
已识别的乳酸相关基因TLR4和RB1用于预测抑郁症的诊断性能、基因调控网络和潜在治疗药物
Fengmin Ding,Jianbei Chen,Jiajia Wu et al.
Fengmin Ding et al.
Background: Lactate is implicated in several brain diseases; however, its precise role in depression remains to be further elucidated. The current study looks into the role of lactate-associated genes in depression, along...
A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7 [0.03%]
DFNA7家族性表型异质性源于新型LMX1A移码变异
Chenyang Xu,Zhipeng Nie,Suyang Wang et al.
Chenyang Xu et al.
Pathogenic variants in the LIM-homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here,...
Integrative Multiomics Analysis Identifies a Novel Gene Signature That Predicts Chemotherapy Resistance and Poor Survival in Osteosarcoma [0.03%]
整合多组学分析识别出一种可预测骨肉瘤化疗耐药及不良预后的新型基因标志物
Xiyu Yang,Xiaoming Lu,Zhiqiang Gao et al.
Xiyu Yang et al.
Chemotherapy resistance is the primary barrier to improving survival in osteosarcoma (OS), yet reliable predictive biomarkers remain limited. Here, we developed and validated a 13-gene signature via weighted gene coexpression network analys...
E2F4 Mediates Mitophagy to Inhibit Ferroptosis in Esophageal Cancer Cells by Activating GPR176 [0.03%]
E2F4通过激活GPR176介导自噬抑制食管癌细胞的铁死亡
Weilang Xu,Fang Su,Luxuan Xie et al.
Weilang Xu et al.
Esophageal cancer (EC) is driven by complex dysregulated molecular networks, and ferroptosis-an iron-dependent, non-apoptotic form of regulated cell death-has emerged as a critical modulator of tumorigenesis. However, the functional contrib...
Chi Chen,Baicheng Xu,Jiong Dang et al.
Chi Chen et al.
Background: Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing loss, retinitis pigmentosa, and variable vestibular dysfunction. USH2A is one of the causative genes of USH. This study is aimed...
Novel African American Colorectal Cancer MSH3 Variants Associate With Major Genomic Instability [0.03%]
新的非洲人种结直肠癌MSH3变异体与主要的基因组不稳定性相关
Mudasir Rashid,Hassan Brim,Shaolei Teng et al.
Mudasir Rashid et al.
Pathogenic variants of MSH3 can increase mutational load within colorectal cells, which may drive initiation and progression of colorectal cancer (CRC). We identified several variants within MSH3 among CRCs from African Americans (AA). To p...
Imen Moumni,Khouloud Khalfaoui,Mariem Chebbi et al.
Imen Moumni et al.
Introduction: Hemoglobinopathies are the most prevalent recessive disorders worldwide, characterized by wide molecular and clinical heterogeneity. They result from mutations within the alpha-, beta-, or delta-globin gene ...
Toward Precision Acupuncture for Pain: Host Genetic Variability, Omics Biomarkers, and Treatment-Response Stratification [0.03%]
面向疼痛的精准针灸：宿主遗传变异、组学生物标志物和治疗反应分层
Lianying Chang,Yue Pan,Xu He et al.
Lianying Chang et al.
Pain is a heterogeneous clinical condition characterized by substantial interindividual variability in symptom severity and treatment response. Acupuncture has been widely used for the management of various pain disorders, including chronic...
Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA [0.03%]
利用胚胎作为致病变异的先证者构建EXT1、CUL3和HBA位点的单倍体型
Defeng Shu,Yi Liu,Xiaoli Wang et al.
Defeng Shu et al.
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzin...
YIF1B Mutational Dysregulation Drives Cutaneous Melanoma Progression by Remodeling the TME [0.03%]
YIF1B基因突变通过重塑肿瘤微环境驱动皮肤黑色素瘤进展
Xiaohan Wang,Yangxu Ding,Wenbo Cai et al.
Xiaohan Wang et al.
YIF1B, a transmembrane protein involved in intracellular trafficking and signaling, is dysregulated in multiple cancers, but its role in SKCM remains unclear. We integrated multiomics data from cutaneous melanoma cohorts, including gene exp...