P. Arumugam

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

The paper introduces MuAt, a deep learning model that learns representations of somatic mutations to predict tumour types and subtypes with high accuracy.

An intermediate effect size variant in UMOD confers risk for chronic kidney disease

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

Floating Sphere Assay: A rapid qualitative method for microvolume analysis of gelation

The paper introduces a rapid, miniaturized assay to determine minimum gelling concentration using microvolume samples, showing it accurately estimates MGCs and differentiates gel strengths.

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The mitochondrial gene CMPK2 functions as a rheostat for macrophage homeostasis in inflammation

This study shows that altering CMPK2 expression disrupts macrophage mitochondrial function and dysregulates basal inflammation.

Inhibition of granuloma triglyceride synthesis imparts control of Mycobacterium tuberculosis through curtailed inflammatory responses

This study shows that inhibiting triglyceride synthesis in TB granulomas reduces bacterial load and inflammation by targeting DGAT1.

Identification and characterization of novel infection associated transcripts in macrophages

The paper identifies and characterizes novel infection-associated transcripts in macrophages induced by Mtb and BCG, highlighting their role in the immune response.

Role of GM-CSF in regulating metabolism and mitochondrial functions critical to macrophage proliferation

This study shows GM-CSF is critical for mitochondrial function and metabolism in macrophages, supporting their proliferation and self-renewal.

The antidepressant sertraline provides a novel host directed therapy module for augmenting TB therapy

This study shows that sertraline enhances the effectiveness of TB antibiotics in macrophages and mice, suggesting it as a host-directed therapy to improve TB treatment.

Human and mouse essentiality screens as a resource for disease gene discovery

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

Macrocyclization of an all-D linear peptide improves target affinity and imparts cellular activity: A novel stapled α-helical peptide modality

This paper combines macrocyclization and D-amino acid strategies to create an all-D helical peptide with improved target affinity and cellular activity.

Modern clinical Mtb strains leverage the type I IFN pathway for a pro-inflammatory response in the host

The paper identifies how modern Mtb strains use the type I IFN pathway to manipulate host immune responses through enhanced phagosomal acidification and cholesterol metabolism.