Genetic risk variants for common diseases are predominantly located in non-coding regulatory regions and modulate gene expression. Although bulk tissue studies have elucidated shared mechanisms of regulatory and disease-associated genetics, the cellular specificity of these mechanisms remains largely unexplored. Here w...
B. Zeng, Hui Yang, Prashant N. M. et al.· Nature Genetics· 2 citations
The human brain undergoes profound changes from early development through late adulthood, shaping cognition, behaviour and vulnerability to disease1,2. Understanding how these changes are organized within specific brain regions and cell types is essential for interpreting normal ageing and its relationship to psychiatr...
Hui Yang, Tereza Clarence, Madeline R. Scott et al.· Nature· 3 citations
Common brain disorders impose a substantial health burden, but localizing their genetic risk in the brain remains challenging1. Although genome-wide association studies have identified numerous loci associated with neuropsychiatric and neurodegenerative disorders, many of these loci lie in non-coding regions that influ...
S. Venkatesh, Roman Kosoy, Zhen-Yi Wu et al.· Nature· 6 citations
Neurodegenerative and neuropsychiatric diseases impose a considerable societal and public health burden. However, our understanding of the molecular mechanisms underlying these highly complex conditions remains limited1,2. Here, to gain deeper insights into the aetiology of different brain diseases, we used specimens f...
Donghoon Lee, Mikaela Koutrouli, Nicolas Y. Masse et al.· Nature· 5 citations
Summary The pathological hallmarks of neurodegeneration are the aberrant post-translational modification and aggregation of proteins. Genetic factors, like APOE4, increase the prevalence and severity of tau, amyloid, and α-synuclein pathologies. However, the human brain is largely inaccessible during this process, limi...
Louise A. Mesentier-Louro, Camille Goldman, Sebastian Gaese et al.· Cell Stem Cell· 1 citation
This work demonstrates an end-to-end analysis from raw images to statistical characterization of how cell type composition and spatial distribution vary across indolent and aggressive lymphomas and presents a Python-based toolbox that supports end-to-end analysis of highly multiplexed imaging data.
Matthias Meyer-Bender, Harald Vöhringer, C. Schniederjohann et al.· Nature Methods· 1 citation
Neurogenesis, a critical process implicated in diverse brain disorders, is greatly diminished in the adult human brain, complicating direct investigations into its mechanistic role in disease. In the olfactory epithelium (OE), olfactory sensory neurons (OSNs) maintain homeostasis via continual neurogenesis throughout l...
Liting Song, J. Fullard, Claire Coleman et al.· Nature Communications· 0 citations
It is shown that a disease-associated microglial subtype, characterized by elevated GPNMB expression and enriched for polygenic AD risk, expands with AD pathology and shows increased phagocytic activity, and MITF is identified as an upstream regulator required to maintain this microglial state.
Donghoon Lee, James M. Vicari, Christian Porras et al.· Nature Genetics· 1 citation
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