A. Webb

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension

The paper identifies NCOA7's role in lysosomal function and inflammatory sterol metabolism in PAH, showing its deficiency exacerbates disease through oxysterol/bile acid generation.

Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancer

The paper identifies a shared genomic region upstream of Myc that is critical for both intestinal regeneration and cancer, revealing a genetic link between tissue renewal and tumorigenesis.

Body size as a magic trait in two plant-feeding insect species

The paper evaluates body size as a magic trait in two sympatric sawfly species, showing it drives reproductive isolation through assortative mating and divergent selection.

Shared Graft Versus Leukemia Minor Histocompatibility Antigens in DISCOVeRY-BMT

The paper identifies shared minor histocompatibility antigens (mHAs) that could enhance graft versus leukemia (GvL) effects while minimizing graft versus host disease (GvHD) in allogeneic hematopoietic cell transplants.

Caspase-4/11 exacerbates disease severity in SARS-CoV-2 infection by promoting inflammation and thrombosis

This study shows that caspase-4/11 worsens SARS-CoV-2 infection by increasing inflammation and thrombosis, independent of GSDMD, suggesting it as a potential drug target for severe COVID-19.

Off-resonance saturation as an MRI method to quantify ferritin-bound iron in the post-mortem brain

This paper introduces an MRI method to quantify ferritin-bound iron in post-mortem brain tissue using off-resonance saturation, showing strong correlation with histological iron staining.

UVB mutagenesis differs in NRAS- and BRAF-mutant mouse models of melanoma

This study compares UVB mutagenesis effects in NRAS- and BRAF-mutant mouse melanoma models, finding BRAF-mutant tumors have more mutations and a stronger UVB mutational signature.

Effects of Alzheimer's disease and formalin fixation on the different mineralised-iron forms in the human brain

The paper examines how Alzheimer's disease and formalin fixation affect mineralised-iron forms in human brain tissue using magnetic analysis.

Host evolutionary history and ecological context modulate the adaptive potential of the microbiome

This study shows that host genotype, microbiome, and environment interact to influence host fitness, with mismatches causing fitness costs in a high-sugar diet.

Iron and lipocalin-2 modulate cellular responses in the tumor micro-environment of pancreatic ductal adenocarcinoma

This study shows that iron and lipocalin-2 (LCN2) influence PDAC cell behavior and metastasis, with LCN2 deletion reducing metastasis and iron chelation increasing anti-metastatic gene expression.

Identification of a divergent cytochrome c oxidase complex in the mitochondrial proteome of Toxoplasma gondii

The paper identifies a divergent cytochrome c oxidase complex in Toxoplasma gondii mitochondria, revealing unique proteins essential for parasite survival.