Compiling public datasets into a single, centralised repository and linking directly to analytical software completely transforms the scale and scope of causal inference across the phenome.
Nuria Martin Flores, Marina Podpolny ... Patricia C Salinas
The Wnt antagonist DKK3 is a key regulator of excitatory and inhibitory synapses, and its downregulation in the hippocampus restores synaptic connectivity and memory in an Alzheimer's disease mouse model.
Rescue of DUX4-induced muscle pathology by the RET inhibitor Sunitinib reveals the therapeutic potential for treatment of Facioscapulohumeral muscular dystrophy using tyrosine kinase inhibitors.
Max Renner, Mattia Bertinelli ... Jonathan M Grimes
A structural comparison of different states of the protein responsible for encapsidation of the viral RNA genome provides mechanistic insights into this process.
Genetically restoring Mecp2 expression only in GABAergic neurons in a mouse model of Rett syndrome improves inhibitory signaling, extends lifespan and rescues most but not all behavioral deficits.
Ankur Sinha, Padraig Gleeson ... Robin Angus Silver
The NeuroML model description language, with its extensive software ecosystem, supports researchers in the development of FAIR, data-driven, biologically detailed models of neural systems.
Emily R Ebel, Frans A Kuypers ... Elizabeth S Egan
Human red blood cells from healthy donors display marked biophysical and genetic variation that impacts the growth of Plasmodium falciparum malaria parasites, outside of known disease alleles.
Rémi Porte, Rita Silva-Gomes ... Alberto Mantovani
Long Pentaxin 3 is highly expressed by non-hematopoietic cells during Streptococcus pneumoniae invasive infections and regulates polymorphonuclear neutrophils' recruitment through interaction with P-selectin which damps inflammation-associated tissue damage and pneumococcal systemic dissemination.
Reanalysis reveals the impact of quality control and differential analysis methods on the discovery of disease-associated genes on the first Alzheimer's disease single-nucleus RNA-seq dataset.