Pathogenesis of autoimmune disease

DS Pisetsky - Nature Reviews Nephrology, 2023 - nature.com
Autoimmune diseases are a diverse group of conditions characterized by aberrant B cell
and T cell reactivity to normal constituents of the host. These diseases occur widely and …

Pancreatic β-cells in type 1 and type 2 diabetes mellitus: different pathways to failure

DL Eizirik, L Pasquali, M Cnop - Nature Reviews Endocrinology, 2020 - nature.com
Loss of functional β-cell mass is the key mechanism leading to the two main forms of
diabetes mellitus—type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) …

Causal relationship between gut microbiota and cancers: a two-sample Mendelian randomisation study

Y Long, L Tang, Y Zhou, S Zhao, H Zhu - BMC medicine, 2023 - Springer
Background Evidence from observational studies and clinical trials suggests that the gut
microbiota is associated with cancer. However, the causal association between gut …

[HTML][HTML] A human brain vascular atlas reveals diverse mediators of Alzheimer's risk

AC Yang, RT Vest, F Kern, DP Lee, M Agam, CA Maat… - Nature, 2022 - nature.com
The human brain vasculature is of great medical importance: its dysfunction causes
disability and death, and the specialized structure it forms—the blood–brain barrier …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …

Expanded encyclopaedias of DNA elements in the human and mouse genomes

JE Moore, MJ Purcaro, HE Pratt, CB Epstein… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …

Single-cell eQTL models reveal dynamic T cell state dependence of disease loci

A Nathan, S Asgari, K Ishigaki, C Valencia, T Amariuta… - Nature, 2022 - nature.com
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

M Ghoussaini, E Mountjoy, M Carmona… - Nucleic acids …, 2021 - academic.oup.com
Abstract Open Targets Genetics (https://genetics. opentargets. org) is an open-access
integrative resource that aggregates human GWAS and functional genomics data including …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …