Archives: “Human Genetics”

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

https://www.coltonconsortium.org/publications/kidney-multiome-based-genetic-scorecard-reveals-convergent-coding-and-regulatory-variants/

Crizanlizumab for retinal vasculopathy with cerebral leukoencephalopathy in a phase II clinical study

https://www.coltonconsortium.org/publications/crizanlizumab-for-retinal-vasculopathy-with-cerebral-leukoencephalopathy-in-a-phase-ii-clinical-study/

Decoding immunobiology through genetic errors of immunity

https://www.coltonconsortium.org/publications/decoding-immunobiology-through-genetic-errors-of-immunity/

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome

https://www.coltonconsortium.org/publications/description-of-a-novel-splice-site-variant-in-uba1-gene-causing-vexas-syndrome/

Diabetes mellitus—progress and opportunities in the evolving epidemic

https://www.coltonconsortium.org/publications/diabetes-mellitus-progress-and-opportunities-in-the-evolving-epidemic/

Associations between blood DNA methylation and histopathologic features in lupus nephritis

https://www.coltonconsortium.org/publications/associations-between-blood-dna-methylation-and-histopathologic-features-in-lupus-nephritis/

Characteristics of autoantibody-positive individuals without high-risk HLA-DR4-DQ8 or HLA-DR3-DQ2 haplotypes

https://www.coltonconsortium.org/publications/characteristics-of-autoantibody-positive-individuals-without-high-risk-hla-dr4-dq8-or-hla-dr3-dq2-haplotypes/

CLNS1A regulates genome stability and cell cycle progression to control CD4 T cell function and autoimmunity

https://www.coltonconsortium.org/publications/clns1a-regulates-genome-stability-and-cell-cycle-progression-to-control-cd4-t-cell-function-and-autoimmunity/

An autoimmune transcriptional circuit drives FOXP3+ regulatory T cell dysfunction

https://www.coltonconsortium.org/publications/an-autoimmune-transcriptional-circuit-drives-foxp3-regulatory-t-cell-dysfunction/

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation

https://www.coltonconsortium.org/publications/arfgap2-promotes-sting-proton-channel-activity-cytokine-transit-and-autoinflammation/