A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects [0.03%]
ACTRT3基因突变通过顶体超微结构缺陷诱导精子畸形和受精失败
Zhenhan Xu,Na Lu,Jintao Guo et al.
Zhenhan Xu et al.
Numerous actin-related proteins (ARPs) deficiencies have been confirmed to cause sperm acrosomal structural abnormalities, representing significant genetic factors in male infertility. We identified a patient with a missense mutation in ACT...
Nucleic acid-based therapeutic strategies for modulator-refractory cystic fibrosis-causing variants [0.03%]
核酸基治疗策略用于调节因子难治性囊性纤维化致病突变
Mark D Leahy,Immacolata Zollo,Luka A Clarke et al.
Mark D Leahy et al.
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene that impair epithelial chloride ion transport, leading to progressive lung dysfunct...
Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix [0.03%]
DISCOSIDIN 域受体2的干扰通过影响细胞外基质而导致腭部畸形的证据
Julia A Capecki,Helena Shkuro,Öznur Yilmaz et al.
Julia A Capecki et al.
Orofacial clefting (OFC) is among the most common birth defects and can occur either as part of a syndrome or in isolation (nonsyndromic, ns). Cleft palate only (CPO) is an OFC subtype. Here, we searched for novel nsCPO risk genes carrying ...
Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6 [0.03%]
烟酰胺核糖可预防nemaline肌病6型的线粒体功能障碍
Rianne J Baelde,Leander A Vonk,Edgar E Nollet et al.
Rianne J Baelde et al.
Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in Kelch-repeat-and-BTB-(POZ)-Domain-Containing-13 (KBTBD13). The majority of the NEM6 patients harbor the Dutch founding variant KBTBD13R408C (c.1222C > T, p.Arg40...
Retraction: Aqua-soluble DDQ reduces the levels of Dr1 and Ab and inhibits abnormal interactions between Ab and Dr1 and protects Alzheimer's disease neurons from Ab- and Dr1-induced mitochondrial and synaptic toxicities [0.03%]
撤回：Aqua-可溶性DDQ降低Dr1和Ab的水平，抑制Ab和Dr1之间的异常相互作用，并保护阿尔茨海默病神经元免受Ab和Dr1引起的线粒体和突触毒性的影响
Editor's Note: Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer's disease [0.03%]
编者按：抗抑郁药西酞普兰对阿尔茨海默病异常APP加工和淀粉样蛋白诱导的线粒体动力学、生物发生、线粒体自噬和突触毒性的影响的保护作用
Published Erratum
Human molecular genetics. 2026 Jun 12;35(12):ddag051. DOI:10.1093/hmg/ddag051 2026
Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes [0.03%]
人类永生化角质细胞中病原性HRAS变异体的疾病特异性生物标志物
Thomas Mair,Theresa Nauth,Hannah Voß et al.
Thomas Mair et al.
Pathogenic germline variants in HRAS result in the non-mosaic RASopathy Costello syndrome (CS), a rare developmental disorder affecting various tissues including the skin and with > 80% of patients showing the HRAS p.G12S variant. Postzygot...
FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution [0.03%]
FXN原突变是弗里德赖希共济失调致病性扩增GAA等位基因的来源，可解释其群体分布不均的现象
Morgan C Devore,Christina Lam,Emily Xiao et al.
Morgan C Devore et al.
Friedreich ataxia (FRDA) is a recessive condition that is typically caused by inheriting an expanded GAA repeat (usually > 500 triplets) in the FXN gene from both parents who are heterozygous carriers of the expanded (E) allele. E alleles, ...
PRMT1 drives cervical cancer progression by orchestrating cell growth, migration, and angiogenesis [0.03%]
PRMT1通过调控细胞生长、迁移和血管生成驱动宫颈癌进展
Wen-Ye Liu,Han-Wen Huang,Jin-Ni Ma et al.
Wen-Ye Liu et al.
PRMT1 is an important regulator implicated in multiple malignancies, yet its role in cervical cancer remains unclear. In this study, we investigated the functional significance of PRMT1 in cervical cancer using integrated public transcripto...