X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX Gene [0.03%]
磷基因中新型短散在核元件Ⅰ不完全插入引起的X连锁低磷酸酯酶症
Dongmei Li,Wan Peng,Lu Kang et al.
Dongmei Li et al.
X-linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypoph...
Case Reports
Human mutation. 2026 Apr 30:2026:3376327. DOI:10.1155/humu/3376327 2026
ILF3 Regulates Cell Proliferation and Metastasis by Competitively Antagonizing the Interaction Between HMGCL and USP38 in Hepatocellular Carcinoma [0.03%]
ILF3通过竞争抑制HMGCL与USP38的相互作用从而调控肝癌细胞增殖和转移功能研究
Qingqing Luo,Lei Xiao,Ganlu Deng et al.
Qingqing Luo et al.
Background: Hepatocellular carcinoma (HCC) is a major type of primary liver cancer. Previous studies have reported that interleukin enhancer-binding factor 3 (ILF3) is involved in the regulation of multiple cancers. This ...
Variant-to-Biomarker Pathways in Peripheral Artery Disease: Multiomics Integration and Clinical Translation [0.03%]
外周动脉疾病中的变异到生物标志物通路：多组学整合与临床转化
Wanting Wang,Gang Zhao,Changxin Yang et al.
Wanting Wang et al.
Peripheral artery disease (PAD) is a prevalent, disabling manifestation of systemic atherosclerosis that carries high risks of major adverse cardiovascular and limb events, yet remains incompletely explained by conventional risk factors and...
Targeting the Vim-PGI2 Pathway Enhances CD8+ T Cell-Mediated Antitumor Immunity in Breast Cancer [0.03%]
靶向 vim-PGI2 通路可增强乳腺癌中 CD8+T 细胞介导的抗肿瘤免疫反应
Hong Quan,Lujing Shao,Qi Li et al.
Hong Quan et al.
Breast cancer is the most prevalent malignancy in women, and the limited effectiveness of current treatments highlights the need for novel immune regulatory mechanisms to improve long-term survival. This study investigated the role of Vim i...
A Tertiary Lymphoid Structure-Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma [0.03%]
透明细胞肾细胞癌中的三级淋巴器官衍生的预后标志整合了免疫微环境和突变景观
Xuanyu Zhou,Zhongwei Zhao,Kai Huang et al.
Xuanyu Zhou et al.
Tertiary lymphoid structures (TLSs) are increasingly recognized as important components of the tumor immune microenvironment, yet their prognostic and immunological implications in clear cell renal cell carcinoma (ccRCC) remain incompletely...
De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus [0.03%]
新生的TRIO错义变异干扰Ras交换因子结构域并导致先天性脑室扩大和脑积水
Neel H Mehta,Evan Dennis,Garrett Allington et al.
Neel H Mehta et al.
Congenital hydrocephalus (CH), characterized by congenital ventriculomegaly (CV), affects approximately 0.5-1 per 1000 live births and is a common cause of pediatric neurosurgical intervention, yet its genetic architecture remains incomplet...
Case Reports
Human mutation. 2026 Apr 27:2026:8870037. DOI:10.1155/humu/8870037 2026
Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes [0.03%]
在非洲首次报道CAMRQ1的一种新型VLDLR变异：扩展小脑共济失调综合征的谱系
Aseel A Jawabri,Ainara Salazar-Villacorta,Henriette Senghor et al.
Aseel A Jawabri et al.
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ)-related disorders are rare, nonprogressive, autosomal recessive conditions primarily characterized by cerebellar ataxia, hypotonia, intellectual disability, delayed ...
Case Reports
Human mutation. 2026 Apr 27:2026:4661238. DOI:10.1155/humu/4661238 2026
Single-Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis [0.03%]
单细胞转录组学和机器学习整合揭示子宫内膜异位症的间质细胞异质性
Huipeng Zhang,Yuli Luo
Huipeng Zhang
Background: Endometriosis (EMs) affects approximately 10% of reproductive-age women worldwide, yet its pathogenesis remains incompletely understood. Abnormal cell differentiation and somatic mutations in the ectopic endom...
Variant-to-Biomarker Integration and Mechanistic Validation Identify CES1 as a Copy Number-Linked Predictor of Radiotherapy Response in Rectal Cancer [0.03%]
基于变异信息的生物标志物筛选及机制验证鉴定出CES1是结直肠癌放射治疗反应性的拷贝数关联生物标志物
Xiaodong Yang,Mingye Zheng,Xiaoxia Lu et al.
Xiaodong Yang et al.
Background: Radiotherapy is a fundamental component of rectal cancer treatment, yet patient responses remain highly heterogeneous due to the lack of reliable biomarkers supported by genomic variation evidence. Integrating...
Cholesterol Reprograms Oxysterol Metabolism via the LOX1/CH25H/CYP7B1 Signaling Axis to Drive Multidrug Resistance in Colorectal Cancer [0.03%]
胆固醇通过LOX1/CH25H/CYP7B1信号轴重新编程 oxysterol代谢以驱动结直肠癌的多药耐药性
Haixia Cheng,Luyao Huang,Jieshen Huang et al.
Haixia Cheng et al.
Chemotherapeutic resistance remains a major contributor to tumor recurrence and unfavorable clinical outcomes in colorectal cancer (CRC). Although cholesterol metabolic reprogramming has been implicated in tumorigenesis, metastasis, and dru...