Identification of common diagnostic biomarkers and immune landscapes in sepsis and acute kidney injury: a transcriptomic study integrating machine learning and single-cell analysis [0.03%]
整合机器学习和单细胞测序分析探究脓毒症与急性肾损伤共有的诊断生物标志物及免疫图谱：一项转录组研究
Yeqiu Huang,Shengnan Fei,Minmin Huang et al.
Yeqiu Huang et al.
Background: Sepsis and acute kidney injury (AKI) are life-threatening conditions often coexisting as sepsis-associated AKI (S-AKI). However, their shared molecular mechanisms and immune heterogeneity remain unclear. This ...
Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review [0.03%]
SHOX缺乏所致朗格Mesomelia侏儒症的罕见表现：综述性文章
Hubert Piwar,Jan Pawlasek,Patryk Sielaff et al.
Hubert Piwar et al.
Langer mesomelic dysplasia is an exceptionally rare skeletal dysplasia caused by complete or functionally complete deficiency of the SHOX (short stature homeobox) gene located within the pseudoautosomal region 1 (PAR1) of the sex chromosome...
Predictive value of peripheral blood cell-free DNA breast cancer gene mutation profiling for postoperative pathological malignancy in BI-RADS 4 breast nodules [0.03%]
乳腺BI-RADS 4类结节术前外周血游离DNA乳腺癌基因突变谱型对术后病理恶性病变的预测价值
Guan Lyu,Huimin Duan,Xiaomei Sheng et al.
Guan Lyu et al.
Objective: To investigate the predictive value of peripheral blood cfDNA breast cancer gene mutation profiling for postoperative pathological malignancy in BI-RADS 4 breast nodules. ...
From toxicogenomics to predictive toxicology and exposomics: defining the next decade of gene-environment research [0.03%]
从毒理基因组学预测毒理学和暴露组学：定义下一个十年的基因环境研究方向
Douglas M Ruden
Douglas M Ruden
Over the past 15 years, genetics has undergone a profound transformation driven by advances in next-generation sequencing, multi-omics technologies, single-cell analysis, genome editing, and artificial intelligence. Within this broader evol...
Evaluating the prognostic value of mutational signatures in small-cell lung cancer through reference-based signature assignment and continuous activity analysis [0.03%]
基于参考的谱型分配和连续活性分析评估小细胞肺癌中的突变谱型的预后价值
Rishabh Garg,Kira A Glasmacher,Arnaud Augert et al.
Rishabh Garg et al.
Background: Small-cell lung cancer (SCLC) is an aggressive malignancy with poor survival outcomes. Biomarkers that reliably capture tumor mutational burden (TMB), tumor immunogenicity, and prognosis could substantially im...
X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report [0.03%]
两兄弟中的X连锁鱼鳞病合并X连锁视网膜劈裂症病例报告
Kou Liu,Xiaojun Du,Xiaohan Yang et al.
Kou Liu et al.
Background: X-linked ichthyosis (XLI) and X-linked retinoschisis (XLRS) are both inherited in an X-linked recessive manner. To date, no prior reports document both conditions' simultaneous occurrence. This case presents t...
SOCS3 deficiency drives the primed to naive pluripotency transition by sustaining STAT3 activation [0.03%]
SOCS3缺陷通过维持STAT3激活驱动多能性从预备态向经典 naive态的转变
Renhong Lu,Suoni Huang,Mingyang Du et al.
Renhong Lu et al.
Objectives: The transition between naive and primed pluripotency is governed by dynamic signaling networks and transcriptional circuits. While the janus kinase (JAK)/signal transducer and activator of transcription 3 (STA...
Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3 [0.03%]
IBA57双等位基因变异导致的多种线粒体功能障碍综合征3型
Yijuan Huang,Chenyu Gou,Yuanqiu Chen et al.
Yijuan Huang et al.
Background: Multiple mitochondrial dysfunction syndrome type 3 (MMDS3; OMIM #615330) is a rare autosomal recessive disorder caused by mutations in IBA57. Its complex clinical presentation and molecular pathogenesis remain...
Novel variants of TP63 identified in Chinese families with split-hand/foot malformation [0.03%]
TP63的新变异在中国分裂手足畸形家系中的发现
Xuyu Gu,Siyuan Tao,Xiaodong Wang et al.
Xuyu Gu et al.
Objective: Split-hand/foot malformation (SHFM) is a group of congenital birth defects affecting the hands and feet, significantly impairing patients quality of life. The TP63 gene encodes the p63 protein, heterozygous TP6...
Editorial: Omic technologies, integrative methods and translational approaches in brain health and disease [0.03%]
述评：脑健康与疾病中的 omic 技术、集成方法和转化方法
Paolo Abondio,Francesco Bruno,Shaoyu Wang
Paolo Abondio