Benjamin Davies

This study shows how FUS's RNA-binding and condensation properties shape its function in nuclear organization and DNA damage response through distinct and synergistic mechanisms.

The paper generates a Kcnv2 E151X mouse model to study KCNV2-associated retinal dystrophy and shows it replicates key functional and structural features of the human disease.

The paper identifies the ERCC6L2-MRI-KU complex as a KU-regulatory DNA translocase that coordinates NHEJ at staggered DNA double-strand breaks, linking it to immunodeficiency and haematopoietic failure in ERCC6L2 disease.

This study identifies early atrial remodelling as a driver of arrhythmia in Fabry Disease by combining ECG analysis, iPSC-derived cardiomyocytes, and in-silico modelling.

This study creates (GA)400 knock-in mice to model C9orf72 polyGA expression, finding mild motor dysfunction and proteomic changes in the spinal cord.

This study identifies an ALPK3 truncation variant causing HCM and shows that mavacamten partially rescues cardiac contractility and calcium handling defects in a mouse model.

The paper generates a mouse model with a humanised C9orf72 repeat expansion to study ALS and FTD, and demonstrates a method for creating such repeat expansions in genomic sequences.

This study investigates the role of shieldin and CST in DNA end-joining and HR suppression, showing their collaboration in DNA repair and the independence of 53BP1's effects.

The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.

This study identifies CTCF binding sequences that effectively block enhancer-promoter activity, showing that their function is not correlated with CTCF/cohesin levels, conservation, or sequence similarity to consensus motifs.

The paper investigates the role of cohesin-mediated loop extrusion in enhancer-promoter proximity and gene expression during mouse erythropoiesis, finding that it is important but not exclusive for gene activation.

The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.

The paper shows that actively transcribed genes can function as chromatin boundary elements, similar to CTCF-bound sites, by stalling chromatin loop extrusion.

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.

The paper maps non-crossover events in meiotic recombination, showing how genetic diversity affects repair mechanisms and contributes to hybrid infertility.

Disruption of the Dexi gene accelerates diabetes in NOD mice and alters serum immunoglobulins, gut microbiome, and microbial metabolites.