Shifeng Xue

IFNγ-CXCL9-CXCR3 axis links T cell recruitment to skeletal muscle remodelling in human physical frailty

This paper identifies an IFNγ-CXCL9-CXCR3 axis linking T cell recruitment to skeletal muscle remodelling in human physical frailty, showing its association with fibrosis and potential therapeutic targets.

SMCHD1 compacts DNA directly in an ATP-regulated manner

This study shows SMCHD1 directly compacts DNA in a flexible, ATP-independent manner, forming clusters that may contribute to gene silencing and genome organization.

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

This study identifies a mutation in SMCHD1 that enhances gene silencing and disrupts developmental processes, revealing distinct roles of SMCHD1 in chromatin structure and gene regulation.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome

The paper investigates SMCHD1's role in two genetic syndromes, showing it regulates chromatin and gene expression through DNA methylation and chromatin organization.