Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy [0.03%]
全外显子组测序鉴定出TRIM72是常染色体隐性遗传性肢带型肌营养不良的候选基因
Abdelaziz Tlili,Abdullah Al Mutery
Abdelaziz Tlili
Background: Limb-girdle muscular dystrophies (LGMDs) constitute a genetically diverse group of disorders characterized by progressive proximal muscle weakness and atrophy. Despite advances in genetic diagnostics, numerous...
Spatial transcriptomics and scRNA-seq: decoding tumor complexity and constructing prognostic models in colorectal cancer [0.03%]
空间转录组学和单细胞 RNA 测序：解码结直肠癌的复杂性并构建预后模型
Wei Song,Yatao Wang,Min Zhou et al.
Wei Song et al.
Introduction: Recent advancements in transcriptomic analysis, combined with single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics, have deepened our understanding of the tumor microenvironment and cellular he...
MicroRNAs in long COVID: roles, diagnostic biomarker potential and detection [0.03%]
长新冠中的微小RNA：作用、诊断生物标志物潜力及检测方法
Naomi-Eunicia Paval,Olga Adriana Căliman-Sturdza,Andrei Lobiuc et al.
Naomi-Eunicia Paval et al.
Long COVID or Post-Acute Sequelae of SARS-CoV-2 Infection (PASC), marked by persistent symptoms lasting weeks to months after acute SARS-CoV-2 infection, affects multiple organ systems including the respiratory, cardiovascular, neurological...
Insights into the tripartite relationship between cervical cancer, human papillomavirus, and the vaginal microbiome: a mega-analysis [0.03%]
宫颈癌、人乳头瘤病毒和阴道微生态三者关系的洞见：大规模分析研究
Hannah H Rashwan,Mohammed H Ali,Mazen M Mostafa et al.
Hannah H Rashwan et al.
Background: Cervical cancer (CC) is the fourth most prevalent malignancy among women worldwide, where 99.7% of the cases are linked to persistent human papillomavirus (HPV) infections. While emerging evidence suggests a r...
Correction: Identification and experimental validation of ulcerative colitis-associated hub genes through integrated WGCNA and lysosomal autophagy analysis [0.03%]
溃疡性结肠炎相关核心基因的识别与实验验证：通过整合加权基因共表达网络分析和溶酶体自噬分析进行
Yuanpei Zhao,Yijun Li,Qingwen Xu et al.
Yuanpei Zhao et al.
Published Erratum
Human genomics. 2025 Aug 9;19(1):88. DOI:10.1186/s40246-025-00799-6 2025
TRP channels in hepatocellular carcinoma: integrative Mendelian randomization and multi-omics analyses highlight MCOLN3/TRPV4 as candidate dual-effect biomarkers [0.03%]
整合型孟德尔随机和多组学分析揭示MCOLN3/TRPV4为肝细胞癌的双效候选生物标志物
Zhe Xu,Chong Pang,Xundi Xu
Zhe Xu
Background: The causal relationship between Transient receptor potential (TRP) and hepatocellular carcinoma (HCC) remains unclear. Our study aimed to identify potential drug targets for HCC within the TRP family using Men...
A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis [0.03%]
家族性幼年型关节炎中LACC1基因新变异c.658G>A（p.Asp220Asn）的鉴定和功能分析
Hiba Alblooshi,Noor Mustafa,Azeem Abdul Khalam et al.
Hiba Alblooshi et al.
Background: Juvenile Idiopathic Arthritis (JIA) represents the most prevalent chronic rheumatic disease in childhood. Its etiology is multifactorial, with growing evidence pointing to a significant genetic contribution to...
A genome-wide pleiotropy study between atopic dermatitis and neuropsychiatric disorders [0.03%]
特应性皮炎和神经精神障碍的全基因组互作研究
Charalabos Antonatos,Alexandros Pontikas,Adam Akritidis et al.
Charalabos Antonatos et al.
Atopic dermatitis (AD) frequently co-occurs with neuropsychiatric disorders, yet the genetic basis for this comorbidity is unclear. We performed a large-scale genome-wide pleiotropy approach to investigate the genetic correlations and causa...
Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review [0.03%]
中国五例LSS基因新突变导致的少毛症14型患者及文献分析
Yujing Zhang,Mengxi Zhao,Xiangqian Li et al.
Yujing Zhang et al.
Background: Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, in...
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis [0.03%]
富马酸水合酶变异亚型与HLRCC相关肾细胞癌风险之间的关联：系统评价和meta分析
Han Wang,Shamsnur Rehim,Hongjing Wang
Han Wang
Background: Fumarate hydratase (FH) is a key mitochondrial enzyme in the tricarboxylic acid (TCA) cycle, catalyzing the reversible hydration of fumarate to malate, thereby facilitating aerobic ATP production and maintaini...