Correction to: AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice [0.03%]
关于使用AAV介导的基因替代疗法恢复BCD患者iPSC来源RPE细胞存活以及Cyp4v3敲除小鼠视力的研究的更正通知
Published Erratum
Human molecular genetics. 2026 Jan 21:ddaf193. DOI:10.1093/hmg/ddaf193 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum [0.03%]
SUPT16H相关神经发育障碍和神经克里斯坦病的遗传和表型谱系
Eunhye Lee,Seungmin Sim,Hee-Jung Choi et al.
Eunhye Lee et al.
SUPT16H encodes a subunit of the FACT (FAcilitates Chromatin Transcription) complex, a histone chaperone essential for maintaining chromatin integrity during transcription, replication, and DNA repair. Pathogenic de novo SUPT16H missense va...
Cardioprotective SNPs in SLC28A3 and lncRNA SLC28A3-AS1 result in transcriptional changes and alternative splicing to reduce doxorubicin cytotoxicity [0.03%]
SLC28A3和长链非编码RNA SLC28A3-AS1中的心脏保护SNPs引起转录变化和可变剪接以降低多柔比星细胞毒性
Shipra Agrawal,Monoj K Das,Tejinder Kaur et al.
Shipra Agrawal et al.
Cardiotoxicity is a therapeutic challenge for anthracycline-based treatments for solid tumors and leukemia. Genome-wide association studies have revealed that single nucleotide polymorphisms in the SLC28A3 locus (encoding Concentrative Nucl...
Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model [0.03%]
报道及新颖的KDM5C变异导致癫痫等症状，果蝇模型中重现了该症状
Bethany K Terry,Amira Mahoney,Brian I Lee et al.
Bethany K Terry et al.
Variants that disrupt the function of the chromatin regulator KDM5C cause a rare neurodevelopmental disorder (KDM5C-NDD) characterized by intellectual disability, seizures, and a broad range of systemic features. To better understand this d...
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing [0.03%]
全基因组测序同时检测小变异和大变异可增强罕见疾病诊断能力
Meng-Ju Melody Tsai,Hsiao-Jung Kao,Chun-Yu Wei et al.
Meng-Ju Melody Tsai et al.
Despite advances in exome and genome sequencing, many patients with suspected genetic disorders remain undiagnosed due to limitations in detecting complex structural variants. This study aimed to evaluate the diagnostic yield and clinical u...
ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP [0.03%]
ERCC6缺陷斑马鱼表现出对紫外线和曲氟尿苷的敏感性、氧消耗量增加及顶泌细胞机械机电转导功能障碍，可通过模拟超氧化物歧化酶MnTBAP恢复功效
Gabriel A Hernandez Herrera,Joseph A Dugdale,Jasmine G Wallace et al.
Gabriel A Hernandez Herrera et al.
Cockayne Syndrome is an ultra-rare premature aging condition associated with UV sensitivity, neurocognitive decline, retinopathy, metronidazole-induced lethality, and sensorineural hearing loss. In 70% of affected patients, bi-allelic patho...
Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals [0.03%]
全基因组元分析在983477人中识别出外周神经病变的易感位点
Martin Broberg,Finn Gen,Eija Kalso et al.
Martin Broberg et al.
Peripheral neuropathies are common neurological disorders affecting sensory, autonomic, and motor nerves, with an estimated prevalence exceeding 2% in the general population. Typical symptoms include numbness and distal limb muscle weakness...