Limited penetrance of dominantly inherited AIRE variants in a population-based cohort [0.03%]
一组群基线队列中以显性方式遗传的AIRE变异的有限渗透性
Suraj N Ramchand,Jacques Murray Leech,Luke N Sharp et al.
Suraj N Ramchand et al.
Pathogenic variants in the autoimmune regulator gene (AIRE) cause Autoimmune polyendocrine syndrome type 1 (APS-1). The majority of disease-causing variants are inherited recessively, while several heterozygous AIRE variants have been repor...
MIRAGE: a multimodal deep learning framework for interpretable risk assessment of high myopia from genetic and retinal imaging data [0.03%]
基于遗传和视网膜影像数据的高近视风险评估的可解释多模态深度学习框架
Yijun Zhou,Shuaishuai Gao,Tao Wang et al.
Yijun Zhou et al.
High myopia (HM) is a complex condition influenced by both genetic and environmental factors, yet its early prediction and clinical intervention remain challenging due to heterogeneous progression patterns. To support early identification o...
Correction to: Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1 [0.03%]
Correction to：在同基因背景下，心肌是丧失功能的线粒体金属伴侣蛋白SCO1突变最敏感的器官
Published Erratum
Human molecular genetics. 2026 Jun 1;35(10):ddag048. DOI:10.1093/hmg/ddag048 2026
tubb5 knockout in zebrafish causes neurodevelopmental defects via notch pathways [0.03%]
斑马鱼tubb5基因敲除通过Notch信号通路导致神经发育缺陷
Huihui Liu,Jinze Li,Linglu Xiao et al.
Huihui Liu et al.
Mutations in TUBB5 cause complex cortical dysplasia with other brain malformations. However, the pathogenic mechanisms underlying TUBB5 mutations remain incompletely understood. We generated tubb5 knockout zebrafish using CRISPR/Cas9 genome...
Luisa Donini,Linda Sartori,Anna Barbieri et al.
Luisa Donini et al.
Mutations in Transglutaminase 6 (TG6) have been linked to a genetic form of spinocerebellar ataxia, namely SCA35. In recent years, several mutations associated with this disease have been identified. While some of them did not alter TG6 enz...
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment [0.03%]
MRPS22变异通过影响线粒体核糖体装配导致白质营养不良、运动障碍和智力障碍
Ruth I C Glasgow,Finn Lennartsson,Snjolaug Arnardottir et al.
Ruth I C Glasgow et al.
Mitochondrial diseases are clinically and genetically heterogeneous, often complicating diagnosis. Here, we describe four unrelated individuals with suspected mitochondrial disease who shared similar neuroimaging features, including bilater...
Finding and computational analyses of a novel mutation in CEP78 linked to cone-rod dystrophy and hearing loss [0.03%]
CEP78新突变的发现和计算分析与cone-rod营养不良和听力损失相关联
Mahtab Sahami,Mohammad Javad Mokhtari,Navid Nezafat et al.
Mahtab Sahami et al.
Cone-Rod Dystrophy with Hearing Loss (CRDHL) is a rare genetic disorder marked by progressive vision and hearing loss. This research explores the genetic changes observed in patients with CRDHL and their subsequent influence on protein func...
Alternative splicing of Scn9a exon 5: mechanistic insights and therapeutic potential in pain disorders [0.03%]
Scn9a第5外显子的可变剪接：痛觉障碍中的作用及潜在治疗意义机制研究
Qingyue Fu,Peng Gao,Xinli Wang et al.
Qingyue Fu et al.
Alternative splicing is a fundamental mechanism of gene regulation that generates transcriptomic and proteomic diversity, and its dysregulation is widely implicated in human diseases. The voltage-gated sodium channel (VGSC) NaV1.7, encoded ...
Combined periodontitis GWAS identifies LINC01541 as a regulator of innate immunity in the oral mucosa [0.03%]
联合牙周病基因组研究鉴定出长链非编码RNA LINC01541是口腔黏膜固有免疫的调控因子
Gesa M Richter,Oluwabukunmi M Akinloye,Tim Kühnlenz et al.
Gesa M Richter et al.
Periodontitis is a complex inflammatory disease in which chronic immune activation drives destruction of periodontal soft tissues and alveolar bone. Although early-onset forms show high heritability, much genetic risk remains unresolved. To...
The causal association between sleep traits and osteoarthritis traits: evidence from bidirectional mendelian randomization [0.03%]
睡眠特征和骨关节炎特征之间的因果关系：双向孟德尔随机化提供的证据
Shibo Chen,Lorraine Southam,Ana Luiza Arruda et al.
Shibo Chen et al.
Sleep disorder is associated with risk of osteoarthritis, yet their causal association has not been fully understood. This study aims to evaluate the causal association between sleep traits and osteoarthritis, by performing two sample Mende...