Patsy R Tomlinson, Rachel G Knox ... Robert K Semple
PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.
Nico A Flierman, Sue Ann Koay ... Chris I De Zeeuw
Dentate nucleus neurons can dynamically modulate their activity during a visual attention task, comprising not only sensorimotor but also cognitive attentional components.
Cristina Gil Avila, Elisabeth S May ... Markus Ploner
Multiverse analysis of the aperiodic component of the electroencephalography (EEG) power spectrum yielded robust evidence against a relationship to chronic pain, guiding further research on EEG biomarkers of chronic pain.
Stephanie Guillet, Tomi Lazarov ... Frédéric Geissmann
Loss-of-function variants of human ACK1 and BRK kinase underlie systemic lupus erythematosus in young patients from multiplex families and disrupt the anti-inflammatory response of macrophages to apoptotic cells.
Brain ventricular astrogliosis and neuroinflammation precede scoliosis onset in the zebrafish rpgrip1l ciliary mutant and anti-inflammatory treatment drastically reduces scoliosis while correcting urotensin related peptide level is ineffective.
Aurélie Anne-Gaëlle Gabriel, Julien Racle ... David Gfeller
EPIC-ATAC accurately quantifies cell-type heterogeneity in tumor bulk ATAC-Seq samples using reliable cell-type specific chromatin accessibility markers for the major cell types found in tumor microenvironments.
Rashmi Sukumaran, Achuthsankar S Nair, Moinak Banerjee
Genomic differences in stroke and its comorbid conditions can aid in refining the socio-economic interpretation of risk among different ethnicities and can assist in distinguishing their phenotypic variation.