Current progress and future perspective of super-enhancers: a viable and effective bridge between the transcriptional apparatus and disease [0.03%]
超级增强子的研究进展与未来前景——转录调控与疾病之间的桥梁作用力
Ran Wang,Aiying Li,Zongran Pang
Ran Wang
Super-enhancers are a super-cluster of enhancers formed by serially arranged regulatory elements that can strongly drive the expression of cell-related genes. Hundreds of SEs in cells affect cell identity and fate-determining processes. Pre...
Case Report: FBN1 mutation screening in South African patients with Marfan syndrome [0.03%]
病例报告：马凡综合征南非患者的FBN1基因突变筛查
F Mhlongo,C Feben,A Krause et al.
F Mhlongo et al.
Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation screening as some nucleotide changes and functio...
Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site [0.03%]
内皮素受体基因中由于常见重复引起的超出引物结合点的等位基因丢失
Anna G Shestak,Victoria A Rumyantseva,Elena V Zaklyazminskaya
Anna G Shestak
Allelic dropout (ADO) is a common limitation of all PCR-based molecular diagnostic methods, leading to false-negative or false-positive results, depending on the allele that was dropped. We report a case of multiple locus-specific allele dr...
Genome-wide identification of LHT gene family in Lonicera macranthoides Hand.-Mazz and their responses to abiotic stresses [0.03%]
忍冬属大花素馨LHT基因家族的全基因组鉴定及其对非生物胁迫响应
Zhaowu Li,Yue Hu,Chunzhi Liang et al.
Zhaowu Li et al.
Amino acid transporters (AATs) allow the transport of amino acids and play important roles in the various physiological processes and environmental responses of plants. The lysine and histidine transporter (LHT) subfamily is an important ty...
Topologically associating domains of chromatin on single-cell Hi-C data: a survey of bioinformatic tools and applications in the light of artificial intelligence [0.03%]
单细胞Hi-C数据分析染色质拓扑相关结构域的生物信息学工具及人工智能应用综述
Hongqiang Lyu,Yao Li,Xinran Chen et al.
Hongqiang Lyu et al.
Topologically associating domains (TADs) uncovered on bulk Hi-C data are regarded as fundamental building blocks of a three-dimensional genome, and they are believed to effectively participate in the regulatory programs of gene expression. ...
Expression characteristics, molecular mechanisms, and clinical significance of DICER1 in breast cancer [0.03%]
乳腺癌中DICER1的表达特征、分子机制及临床意义
Xi Zhang,Long Yu,Cuizhi Geng
Xi Zhang
Objective: This study aims to investigate the expression patterns, molecular mechanisms, and clinical significance of DICER1 in breast cancer (BRCA), providing new biomarkers and therapeutic targets for prognosis assessme...
Shunzhe Wang,Long Liang,Dilinigeer Ziyayiding et al.
Shunzhe Wang et al.
Background: Inbreeding and genetic diversity are critical factors influencing the adaptability, productivity, and sustainability of livestock populations. Teha sheep, a crossbred line between Texel and Kazakh sheep, are a...
Editorial: Screening and discovering novel biological biomarkers by omic-data to revolutionize tumor management [0.03%]
论点：通过组学数据筛选和发现新型生物标志物以革新肿瘤诊疗
Binglin Wang,Yinan Jiang,Peijie Wu et al.
Binglin Wang et al.
Putative epigenetic regulation mechanisms related to production, carcass and beef quality traits in Nelore cattle [0.03%]
与耐洛尔牛的生产、胴体和牛肉品质性状相关的表观遗传调控机制
Juliana Afonso,Woo Jun Shim,Tainã Figueiredo Cardoso et al.
Juliana Afonso et al.
Introduction: Understanding regulatory mechanisms like epigenetics can help improve beef production, carcass, and meat quality. Epigenetic states are dynamic and shaped by the environment, but due to limited studies and c...
HyenaCircle: a HyenaDNA-based pretrained large language model for long eccDNA prediction [0.03%]
基于HyenaDNA的预训练大型语言模型预测长eccDNA（HyenaCircle）
Fuyu Li,Wenxiang Lu,Yunfei Bai
Fuyu Li
Introduction: Extrachromosomal circular DNA (eccDNA) represents a class of circular DNA molecules derived from chromosomes with diverse roles in disease. Long eccDNAs (typically 1-5 kb) pose detection challenges due to th...