Impact of the Human Cell Atlas on medicine

JE Rood, A Maartens, A Hupalowska, SA Teichmann… - Nature medicine, 2022 - nature.com
Single-cell atlases promise to provide a 'missing link'between genes, diseases and
therapies. By identifying the specific cell types, states, programs and contexts where disease …

Systemic lupus erythematosus pathogenesis: interferon and beyond

S Caielli, Z Wan, V Pascual - Annual review of immunology, 2023 - annualreviews.org
Autoreactive B cells and interferons are central players in systemic lupus erythematosus
(SLE) pathogenesis. The partial success of drugs targeting these pathways, however …

The immunology of systemic lupus erythematosus

GC Tsokos - Nature Immunology, 2024 - nature.com
Understanding the pathogenesis and clinical manifestations of systemic lupus
erythematosus (SLE) has been a great challenge. Reductionist approaches to understand …

[HTML][HTML] Pan-cancer single-cell dissection reveals phenotypically distinct B cell subtypes

Y Yang, X Chen, J Pan, H Ning, Y Zhang, Y Bo, X Ren… - Cell, 2024 - cell.com
Characterizing the compositional and phenotypic characteristics of tumor-infiltrating B cells
(TIBs) is important for advancing our understanding of their role in cancer development …

Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion

X **ong, BT James, CA Boix, YP Park, K Galani… - Cell, 2023 - cell.com
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …

UNC93B1 variants underlie TLR7-dependent autoimmunity

C Wolf, EL Lim, M Mokhtari, B Kind, A Odainic… - Science …, 2024 - science.org
UNC93B1 is critical for trafficking and function of nucleic acid–sensing Toll-like receptors
(TLRs) TLR3, TLR7, TLR8, and TLR9, which are essential for antiviral immunity. Overactive …

Precise identification of cell states altered in disease using healthy single-cell references

E Dann, AM Cujba, AJ Oliver, KB Meyer… - Nature Genetics, 2023 - nature.com
Joint analysis of single-cell genomics data from diseased tissues and a healthy reference
can reveal altered cell states. We investigate whether integrated collections of data from …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Deciphering the impact of genomic variation on function

Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Dissecting human population variation in single-cell responses to SARS-CoV-2

Y Aquino, A Bisiaux, Z Li, M O'Neill, J Mendoza-Revilla… - Nature, 2023 - nature.com
Humans display substantial interindividual clinical variability after SARS-CoV-2 infection,–,
the genetic and immunological basis of which has begun to be deciphered. However, the …