Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report [0.03%]
纯合子型家族性高胆固醇血症,两种墨西哥儿科患者使用Evinacumab治疗的病例报告
Ramón Madriz Prado,Yazmín Guadalupe Ríos Solís,Diana Estefanía Guerrero Dávila et al.
Ramón Madriz Prado et al.
Homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, leading to accelerated atherosclerotic cardio...
Integrative bioinformatics and in vivo validation suggest a potential role of Cbr4 in alcohol use disorder through modulation of lipid metabolism and treg cell function in the central amygdala [0.03%]
整合生物信息学和体内验证提示Cbr4通过调节中央杏仁核脂质代谢和Treg细胞功能潜在地参与酒精使用障碍病理过程
Yao Ge,Yihan Yuan,Min Li et al.
Yao Ge et al.
Background: The central amygdala (CeA) is closely associated with the development of alcohol dependence by mediating negative affective and stress responses during alcohol withdrawal. Chronic alcohol disrupts CeA neuroimm...
Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases [0.03%]
病例报告:GTF3C3基因双等位变异新型突变患者的临床特征及文献复习
Lucía López-López,Beatriz González Giráldez,Yolanda Benítez et al.
Lucía López-López et al.
Biallelic variants in GTF3C3 have been recently associated with an autosomal recessive form of syndromic intellectual disability, with only 16 patients reported to date. Using whole exome sequencing, we identified previously unreported bial...
Single-cell transcriptomic insights into the intrinsic cardiac nervous system: diversity, development, and neuro-cardiac interactions [0.03%]
单细胞转录组揭示固有心脏神经系统:多样性、发育及其神经心肌相互作用
Jihao Zheng,Ruotong Wu,Chujiao Gu et al.
Jihao Zheng et al.
The intrinsic cardiac nervous system (ICNS), composed of sympathetic, parasympathetic, and sensory neurons embedded within the heart, plays a pivotal role in regulating cardiac electrophysiology and contractility. Functional imbalance withi...
Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China [0.03%]
中国清远地区新生儿耳聋整合型听力和基因筛查:经验之谈
Qin She,Hui-Lin Ou,Er-Fang Tang et al.
Qin She et al.
Objective: This study aimed to delineate the prevalence and mutation spectrum of deafness-associated genes among newborns in a resource-limited region of China, and to assess the diagnostic yield of combined hearing and g...
L-tetrahydropalmatine attenuates ketamine reward effect via modulating the miR-27a-3p/MAP2K4 axis [0.03%]
L-四氢帕马丁通过调节miR-27a-3p/MAP2K4轴削弱氯胺酮的奖赏效应
Yan Du,Xing-Cui Gao,Qing Ma et al.
Yan Du et al.
Introduction: Ketamine (KET) addiction has already been a serious problem all over the world, which could induce neurological and psychological harm. Levo-tetrahydropalmatine (l-THP), a major alkaloid extracted from the C...
Distribution of CYP2C19 genetic polymorphisms and pharmacogenomic implications in 11,710 patients with cardiovascular and cerebrovascular conditions: a large population-based study in eastern China [0.03%]
在中国东部人群中的大规模基于人群的研究:11,710例心血管和脑血管疾病患者中CYP2C19基因多态性的分布及其药物基因组学意义
Minfei Peng,Minmin He,Ying Chen et al.
Minfei Peng et al.
Objective: To investigate the distribution of CYP2C19 genetic polymorphisms among patients with cardiovascular and cerebrovascular conditions in Taizhou, Zhejiang Province, and to evaluate their pharmacogenomic implicatio...
Junyi Gu,Qian Chen
Junyi Gu
[This corrects the article DOI: 10.3389/fgene.2026.1845863.]. Keywords: X chromosome inactivation; XCI escap...
Published Erratum
Frontiers in genetics. 2026 Jun 29:17:1898696. DOI:10.3389/fgene.2026.1898696 2026
Rethinking scale in AI-driven genomic medicine - The role of small biobanks [0.03%]
人工智能驱动的基因组医学中的规模再思考——小型生物样本库的作用
Laura Grech,Nikolai Paul Pace
Laura Grech
Artificial intelligence is rapidly advancing genomic medicine, but its clinical trustworthiness cannot be secured by larger datasets alone. This perspective argues that small biobanks, including national, regional, hospital-linked and disea...
Identification and validation of bile exosomal microRNA signatures for diagnosing acute rejection in liver transplant recipients [0.03%]
肝移植受者胆汁外泌体微小核糖核酸标志物的识别与验证以诊断急性排斥反应
Wenjing Wang,Hui Wang,Wen Li et al.
Wenjing Wang et al.
Introduction: Acute rejection (AR) remains a major complication affecting graft function and recipient prognosis after liver transplantation (LT). Bile exosomal microRNAs (miRNAs) possess organ specificity, local enrichme...