Graeme R. Grimes

This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

This study identifies SEC13 as a novel NMD factor in mammalian cells and shows its role in regulating ER stress through the UPR pathway.

The paper compares two scRNA-seq platforms to quantify transcriptional noise and identifies gene length and CpG-island promoters as factors influencing noise levels.

The paper shows CpG islands act as topological sinks for transcription-induced DNA supercoiling by focusing torsional stress and promoting DNA melting.

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

This paper shows that RNA and SAF-A form a microgel network in the nucleus near the sol-gel transition, exhibiting viscoelastic properties and reconciling solid-like and fluid-like behaviors.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

The paper shows that disrupting PRC1 condensates with 1,6-hexandiol reversibly disrupts polycomb chromatin domains and loops in mouse embryonic stem cells.

The paper analyzes gene expression in normal colorectal mucosa to assess associations with BMI and sex, finding no significant associations after replication.

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

This study identifies demographic and sampling factors affecting gene expression in normal colorectal mucosa, with age, gender, and sample site showing significant associations.

This study shows oral vitamin D supplementation changes rectal mucosa gene expression patterns linked to anti-tumor effects, with blood biomarkers HIPK2 and PPP1CC identifying responders.

The paper investigates the chromatin structure changes during human centromere formation, finding that it involves active transcription and open chromatin, while surrounding regions become repressed and compact.

This study shows FAK regulates IL-33 expression by controlling chromatin accessibility at c-Jun motifs through ATAC-seq and RNA-seq integration.

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.

The paper identifies PARP1-mediated chromatin unfolding as a mechanism for long-range enhancer activation at the Shh locus in neural progenitor cells.