Correction: De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies [0.03%]
遗传性心肌病中编码区和调控区内从头和继承变异的订正研究论文
Nirmal Vadgama,Mohamed Ameen,Laksshman Sundaram et al.
Nirmal Vadgama et al.
Published Erratum
Human genomics. 2025 Oct 24;19(1):122. DOI:10.1186/s40246-025-00825-7 2025
Association between hot spring residency and dry eye disease: a crossover gene-environment interaction (GxE) study in Taiwan [0.03%]
温泉暴露与干眼病的关联：台湾地区一项干眼病的基因-环境交互作用研究
Hsin-Yu Wu,Kao-Jung Chang,Wei Chiu et al.
Hsin-Yu Wu et al.
Background/aims: The advent of genetic biobanking has powered gene-environment interaction (GxE) studies in various disease contexts. Therefore, we aimed to discover novel GxE effects that address hot spring residency as ...
The role of ABCB1 and CES1 genotypes on the efficacy and safety of dabigatran: a systematic review and meta-analysis [0.03%]
ABCB1和CES1基因多态性对达比加群疗效及安全性影响的系统评价和meta分析
Weam Aldiban,Nada G Hamam,Nereen A Almosilhy et al.
Weam Aldiban et al.
Introduction: Dabigatran is a direct oral anticoagulant associated with a high incidence of gastrointestinal bleeding, which presents a significant clinical concern. Genetic polymorphisms in the enzymes responsible for dr...
Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome [0.03%]
靶向修饰CUL3基因的顺式作用元件以恢复外显子9的剪接用于治疗戈登综合征
Xiaomeng Shi,Shanshan Lu,Qian Tang et al.
Xiaomeng Shi et al.
Background: The weak splice acceptor site (AS) of exon 9 underlies almost all pathogenic variants of Cullin3 (CUL3) causing exon 9 skipping in Gordon syndrome, emphasizing the need for splicing-targeted therapeutic strate...
Identification and validation of aryl hydrocarbon receptor-associated hub genes in ulcerative colitis via integrated bioinformatics analysis [0.03%]
通过整合生物信息学分析识别和验证溃疡性结肠炎中与aryl hydrocarbon受体相关的枢纽基因
Yuanpei Zhao,Jiaping Wang,Xiaoli Min et al.
Yuanpei Zhao et al.
Objective: Ulcerative colitis (UC), a chronic inflammatory bowel disease, continues to pose substantial challenges in both diagnosis and treatment. The aryl hydrocarbon receptor (AhR) plays a pivotal role in intestinal im...
Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians [0.03%]
百岁老人和超级老人的编码区单核苷酸多态性遗传特征的综合分析研究
Audre Preena Maria Sundar Raj,Gayathri Selvakumar,James Clement et al.
Audre Preena Maria Sundar Raj et al.
Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, and mortality, affecting individuals at the level of cellular, organ, and organism. This process is influenced by geneti...
Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes [0.03%]
基于可成药基因组的骨髓炎遗传支持新药靶识别研究
Ruotong Yao,Yangguang Lu,Di Lu et al.
Ruotong Yao et al.
Background: Limited drug treatment data are available for osteomyelitis (OM), an inflammatory bone condition secondary to infection. Given its genetic characteristics, it is necessary to integrate genetics into drug devel...
Meta-Analysis
Human genomics. 2025 Oct 7;19(1):117. DOI:10.1186/s40246-025-00826-6 2025
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings [0.03%]
RINT1新型同型变异引起的复发性急性肝功能衰竭和中性粒细胞减少：表型扩展及人群特异性发现简报
Еkaterina Nuzhnaya,Andrey Marakhonov,Nikolai Prokhorov et al.
Еkaterina Nuzhnaya et al.
Background: Recurrent acute liver failure (RALF) is a rare and life-threatening disorder often triggered by infections or febrile episodes. Variants in genes regulating vesicular transport, including RINT1, NBAS have been...
Case Reports
Human genomics. 2025 Oct 7;19(1):116. DOI:10.1186/s40246-025-00827-5 2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients [0.03%]
来自中国Gitelman综合征患者的临床和基因新见解
Xiaomeng Shi,Lu Zhang,Xing Chen et al.
Xiaomeng Shi et al.
Background: Gitelman syndrome (GS) is a rare tubulopathy with clinical and genetic heterogeneity. This study aimed to investigate the characteristics of Chinese GS patients. ...
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF [0.03%]
多中心研究揭示OTOF基因致病性新型剪接位点始祖突变
Zippora Brownstein,Lara Kamal,Shir Mishan-Montefiori et al.
Zippora Brownstein et al.
Background: Over 200 pathogenic variants in the OTOF gene encoding otoferlin are associated with sensorineural hearing loss (SNHL) and auditory neuropathy spectrum disorders (ANSD). ...