Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield [0.03%]
NGS检测遗传性肿瘤患者拷贝数变异的特征显示PALB2在携带致病突变中的贡献率
Lia Bonamici,Lucia Artuso,Marco Marino et al.
Lia Bonamici et al.
The extensive use of next-generation sequencing (NGS) multi-gene panels and advanced analysis algorithms have led to the identification of numerous genetic variants associated with breast, ovarian, and pancreatic cancer. Copynumber variatio...
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions [0.03%]
开发Del2Phen：一种染色体缺失表型描述的新工具
Eleana Rraku,Tyler D Medina,Conny M A van Ravenswaaij-Arts et al.
Eleana Rraku et al.
Information on the health-related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations invo...
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy [0.03%]
新兴的TNNT3谱系：从远端关节挛缩症到先天性肌病
Nami Altin,Kamel Mamchaoui,Jessica Ohana et al.
Nami Altin et al.
Distal arthrogryposis (DA) is a group of nonprogressive congenital muscular disorders affecting distal limb joints, without concurrent neuromuscular disease. Ten different types of DAs are known, with many different genes involved. Dominant...
Case Reports
Human mutation. 2025 Dec 28:2025:1785045. DOI:10.1155/humu/1785045 2025
Development of Novel PANoptosis-Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma [0.03%]
开发新型PANoptosis相关基因特征谱以预测胃腺癌患者的预后
Xin Wu,Linde Sun,Peifa Liu et al.
Xin Wu et al.
Background: PANoptosis, as an inflammatory programmed cell death, is involved in tumor development. This study set out to discover novel PANoptosis-correlated prognostic signatures in stomach adenocarcinoma (STAD), a prev...
FLLL31 Induces Apoptosis via the FOXO4/BCL6 Axis to Inhibit Bladder Cancer Progression [0.03%]
FLLL31通过FOXO4/BCL6轴诱导膀胱癌细胞凋亡以抑制肿瘤进展
Yu Han,Jingxuan Peng,Wenjie Yan et al.
Yu Han et al.
Bladder cancer represents one of the most common malignancies globally, posing a severe threat to human health. Through compound library screening, we identified tetramethylcurcumin (FLLL31), a diketone analog of curcumin, as exhibiting sig...
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder [0.03%]
PHF20基因纯合缺失导致的神经发育障碍综合征
Shira Yanovsky Dagan,Hongwen Xuan,Jonathan Rips et al.
Shira Yanovsky Dagan et al.
PHF20 encodes plant homeodomain finger protein 20 (PHF20), a component of the KAT8-containing nonspecific lethal (NSL) complex that deposits acetylation on histone H4 to activate gene expression. We report two unrelated individuals with dev...
Case Reports
Human mutation. 2025 Dec 22:2025:6484814. DOI:10.1155/humu/6484814 2025
Correction to "Genotype-phenotype correlations in individuals with pathogenic RERE variants" [0.03%]
对“致病性RERE变异个体的基因型-表型关联”的纠正
[This corrects the article DOI: 10.1002/humu.23400.]. Copyright © 2025 Human Mutation published by John Wiley & Sons Ltd.
Published Erratum
Human mutation. 2025 Dec 19:2025:9821512. DOI:10.1155/humu/9821512 2025
Causal Relationships Between Pregnancy, Menstrual History, and Endometrial Cancer With Mediating Effects of Metabolism-Related Traits [0.03%]
妊娠、月经史与子宫内膜癌的因果关系及代谢相关表型的中介作用分析
Meifang Zhou,Suiping Dai,Tingting Zhu et al.
Meifang Zhou et al.
Background: Periods and pregnancy may affect the development of endometrial cancer by affecting the secretion of sex hormones, but the causal relationship is not clear, and its mediating factors need to be explored. ...
Integrated Multiomics Unravels Hedgehog (HH) Signaling Characteristics in Pancreatic Cancer (PC) and DCBLD2 Regulates HH Signaling to Drive PC Progression [0.03%]
整合多组学解析胰腺癌中 hedgehog（HH）信号的特点及DCBLD2通过调控HH信号驱动胰腺癌进展
Biao Zhang,Bingqian Huang,Xinya Zhao et al.
Biao Zhang et al.
Hedgehog (HH) signaling plays a crucial role in cancer development. However, HH signaling-related molecular characteristics have not been comprehensively evaluated in pancreatic cancer (PC). This study dissected the characteristics of HH si...
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways [0.03%]
早产新生儿早期代谢和免疫适应的整合分析：关键代谢物和通路研究
Xiaofan Li,Yue Gan,Lan Tan et al.
Xiaofan Li et al.
Objective: This study was aimed at clarifying the unique metabolic alterations in preterm neonates, distinct from full-term neonates, between the first 24 and 48 h postnatally. ...