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 …

[HTML][HTML] 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 …

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 …

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 …

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 …

[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 …

Multiomic analyses uncover immunological signatures in acute and chronic coronary syndromes

K Pekayvaz, C Losert, V Knottenberg, C Gold… - Nature medicine, 2024 - nature.com
Acute and chronic coronary syndromes (ACS and CCS) are leading causes of mortality.
Inflammation is considered a key pathogenic driver of these diseases, but the underlying …

The evolution of single-cell RNA sequencing technology and application: progress and perspectives

S Wang, ST Sun, XY Zhang, HR Ding, Y Yuan… - International journal of …, 2023 - mdpi.com
As an emerging sequencing technology, single-cell RNA sequencing (scRNA-Seq) has
become a powerful tool for describing cell subpopulation classification and cell …

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 …