Asier Iturrate,Frédéric Tran-Mau Them,Alain Verloes et al.
Asier Iturrate et al.
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus [0.03%]
对来自墨西哥的深度表型家族性高胆固醇血症队列的分析显示，已知血脂异常基因中的罕见和常见等位基因都发挥了作用，并在新型位点中发现了结构变异
Nicholas Katsanis,Niki Mourtzi,Consuelo D Quinto-Cortés et al.
Nicholas Katsanis et al.
Familial hypercholesterolemia (FH) is a genetic disorder driven in part by mutations in three genes that encode components of the cholesterol pathway: LDLR, APOB, and PCSK9. However, the majority of FH genetics has been performed in individ...
Integrative transcriptomic profiling and machine learning reveal hypoxia-associated molecular signatures for precision diagnosis in thyroid eye disease [0.03%]
整合转录组分析和机器学习揭示甲状腺眼病的低氧相关分子标志物以实现精准诊断
Weijin Qian,Tianyi Zhu,Jin Liu et al.
Weijin Qian et al.
Background: Thyroid eye disease (TED) is an autoimmune disorder characterized by persistent inflammation around the periphery and within the orbit, potentially driven by hypoxic conditions. Effective biomarkers and precis...
The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training [0.03%]
HUGO临床基因组和基因组医学教育调查：全球临床医生需要并希望接受基因组医学培训
Charles Wray,Edward S Tobias,Dhavendra Kumar et al.
Charles Wray et al.
Background: The Clinical Genomics & Genomic Medicine Education subcommittee of the Human Genome Organization (HUGO) reports on the results of an exploratory genomic medicine survey of healthcare providers (clinicians) in ...
Assessing the clinical application value of SNP-array in fetal central nervous system malformations [0.03%]
评估SNP芯片在胎儿中枢神经系统畸形临床应用价值的研究
Wei Li,Jiasun Su,Weiliang Lu et al.
Wei Li et al.
Background: Single nucleotide polymorphism array (SNP-array) has been introduced for prenatal diagnosis. This study aims to evaluate the clinical utility of SNP-array in the prenatal central nervous system (CNS) malformat...
KIF11 variants in familial exudative vitreoretinopathy leading to mTORC1 overactivation and impaired cell cycle progression [0.03%]
家族性渗出性玻璃体视网膜病变中KIF11变异导致mTORC1过度激活和细胞周期进程受损
Min Liu,Shengliu Pan,Erkuan Dai et al.
Min Liu et al.
Background: This study aimed to identify potentially pathogenic variants in the KIF11 gene in patients with Familial Exudative Vitreoretinopathy (FEVR) and to evaluate their impact on KIF11 function and associated cellula...
Potential involvement of the KLF2-GPX4 axis in ferroptosis during S.aureus-induced osteomyelitis [0.03%]
KLF2-GPX4轴可能参与了金黄色葡萄球菌诱导的骨髓炎中铁死亡的过程
Jian Sun,Xingbo Cai,Junhui Qi et al.
Jian Sun et al.
Background: Increasing evidence suggests that ferroptosis plays a pivotal role in Staphylococcus aureus (S. aureus)-induced osteomyelitis. However, the regulatory mechanisms underlying ferroptosis-related genes (FRGs) in ...
PRKAA2 mediates the pathogenesis of metabolic dysfunction-associated steatotic liver disease via PI3K/AKT signaling pathway [0.03%]
PRKAA2通过PI3K/AKT信号通路介导代谢功能障碍相关脂肪性肝病的发病机制
Jiayi Li,Guiling Wu,Zihao Li et al.
Jiayi Li et al.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) has emerged as the most prevalent type of chronic liver disease, posing a significant threat to human health. Protein kinase AMP-activated catal...
Comprehensive pan-cancer analysis of USP35 and validation of its role in gastric cancer [0.03%]
USP35的泛癌症全面分析及其在胃癌中作用的验证
Lirong Yan,Yuzhe Zhang,Shubao Wang et al.
Lirong Yan et al.
In this study, we systematically revealed the expression characteristics, clinical relevance, and potential molecular mechanisms of the ubiquitin-specific processing protease 35 (USP35) in 33 cancers for the first time by integrating pan-ca...
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses [0.03%]
非典型胎儿多囊肾病的表现说明了基因组尸检的实用性以做出准确的死产诊断
Mahalia S B Frank,Melissa K Bennett,Thuong T Ha et al.
Mahalia S B Frank et al.
Background: Prenatal presentation of polycystic kidney disease (PKD), characterized by bilateral renal cysts and enlarged echogenic kidneys on ultrasound, often results in perinatal death. Prenatal manifestations of PKD a...