Andrew J. Deans

Cell cycle dependent regulation of mRNA export in response to replication stress

The paper identifies WEE1, CDK1, and PLK1 as regulators of mRNA export during DNA replication stress, showing their role in preventing R-loop associated mRNA from being exported to the cytoplasm.

Fanconi Anaemia E3 Ligase complex activity is regulated by a druggable metabolite binding site in FANCX

The paper identifies a druggable metabolite binding site in the FA E3 ligase complex that inhibits its activity and selectively kills BRCA1-deficient cells.

Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia

A patient with Fanconi anemia developed triploid hematopoietic stem cells that lacked the disease phenotype, enabling sustained hematopoiesis through restored DNA repair.

Local nucleolar surveillance mechanisms maintain rDNA stability

This study identifies localized nucleolar surveillance mechanisms that respond to rDNA damage by activating the nucleolar DNA damage response (nDDR) through R-loop formation and RAD54L protection.

Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand.

This study investigates the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand, finding a correlation between testing rates and case detection, and highlighting increased susceptibility to HNSCC.

Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase

This study identifies the Hel2i domain as essential for FANCM's DNA binding and branch migration, revealing its role in suppressing the ALT pathway in cancer cells.

Improved gene targeting in vivo using EoHR, a small molecule inhibitor of 53BP1

This paper introduces EoHR, a 53BP1 inhibitor that enhances HDR efficiency in Cas9-mediated gene editing in mice, doubling successful edits and reducing time to project success.

Fancm regulates meiotic double-strand break repair pathway choice in mammals

This study shows Fancm deficiency increases crossover frequencies and disrupts gametogenesis in mice, with potential implications for human genomic instability disorders.

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants

The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.