Bae-Geun Nam,Jung Hwa Seo,Sung-Ah Hong et al.
Bae-Geun Nam et al.
Background: Krabbe disease (KD) is caused by mutation of the galactosylceramidase (GALC) gene, leading to deficient sphingolipid metabolism, which is essential for functional myelination. The twitcher (Galctwi/twi) mouse,...
Tian Lin,Jian Zeng,Scott D Gordon et al.
Tian Lin et al.
Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders [0.03%]
Bing Xiao,Hongqian Liu,Yu Sun et al.
Bing Xiao et al.
Comparative genomics identifies small interfering RNA with activity against all five human betacoronaviruses [0.03%]
Julian Vogler,Shubhankar Ambike,Stoyan Velkov et al.
Julian Vogler et al.
Background: The Orthocoronavirinae virus subfamily (CoV) poses a continuous global health threat. Seven CoV species are known to infect humans and additional animal CoVs with potential for human spillover have been identi...
Yi Lei,Xiaolei Lin,Xuemei Ling et al.
Yi Lei et al.
Background: Myopia is a global epidemic and a leading cause of visual impairment. It is driven by intermittent environmental exposures, such as near-work, which induce scleral hypoxia. However, the molecular mechanism tha...
Allele-specific suppression of pathogenic bestrophin-1 transcripts by CRISPR/Cas9-mediated genome editing [0.03%]
Andrea Milenkovic,Bernhard H F Weber
Andrea Milenkovic
Background: Treating autosomal dominant gene mutations remains challenging, particularly when mutations convey a gain-of-function or a dominant-negative effect, as standard gene supplementation strategies often fail to co...
Strain-level microbial signatures and inferred functional alterations in infants with food protein-induced allergic proctocolitis [0.03%]
Chen Goldstein,Itamar Lavy,Timothy Sun et al.
Chen Goldstein et al.
Background: The complex relationship between the gut microbiome and immune system development during infancy is considered a key factor in the rising rates of pediatric allergic diseases. Food protein-induced allergic pro...
DposFinder: an interpretable transformer model for predicting phage-derived polysaccharide depolymerases and their host capsular serotypes [0.03%]
Yanxiang Shen,Heyuan Lun,Yumeng Zhang et al.
Yanxiang Shen et al.
Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome [0.03%]
Xubing Liu,Zhao Chen,Qian Jiang et al.
Xubing Liu et al.
Developing a germline prostate cancer risk test incorporating rare and common variants, to inform clinical decisions: a route to precision oncology [0.03%]
Sarah Wakerell,Questa Karlsson,Susan Merson et al.
Sarah Wakerell et al.