A. Kulkarni

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.

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

First Detection of Recombinant Enterovirus G Carrying a Torovirus Papain-like cysteine protease Gene from India

The study reports the first detection of a type I recombinant EV-G1 strain carrying a torovirus PLCP gene from India, showing genetic similarity to strains from South Korea, China, and Japan.

A Curated Cell Life Imaging Dataset of Immune-enriched Pancreatic Cancer Organoids with Pre-trained AI Models

The paper introduces a curated dataset of immune-enriched pancreatic cancer organoids with pre-trained AI models for segmentation and analysis.

Broad de-regulated U2AF1 splicing is prognostic and augments leukemic transformation via protein arginine methyltransferase activation

The paper identifies a splicing mechanism in AML independent of mutations, showing it drives poor prognosis and can be targeted with PRMT5 inhibition.

Drivers of phenotypic differentiation across rock outcrop sky islands in Impatiens plants

This study compares phenotypic divergence between two plant species, finding that habitat specialization drives stronger floral trait differentiation in a specialist species than in a generalist.

Identification of resistance mechanisms to small-molecule inhibition of TEAD-regulated transcription

This study identifies resistance mechanisms to TEAD inhibitors by showing MAPK hyperactivation can counteract their effects and suggests combining TEAD and MEK inhibition as a therapeutic strategy.

Multiprotein Assemblies, Phosphorylation and Dephosphorylation in Neuronal Cytoskeleton

This study examines how mutations in BARD1 ankyrin repeats correlate with phosphorylation sites and conformational changes, suggesting implications for Alzheimer's disease pathogenesis.

Reservoir Dogs: Consequences of variable contact network structures for disease spread in free-ranging dogs

The paper examines how contact network structures in free-ranging dogs affect rabies spread, finding that village dogs have higher connectivity leading to more disease transmission.

oskar acts with the transcription factor Creb to regulate long-term memory in crickets

The paper shows oskar works with Creb to regulate long-term memory in crickets, supporting its evolutionary origin in neural functions.

Locomotion control during curb descent: Bilateral ground reaction variables covary consistently during the double support phase regardless of future foot placement constraints

This study examines how ground reaction forces and moments coordinate during the double support phase of curb descent, finding that stability of whole-body rotations is prioritized over future foot placement constraints.

Humans prioritize walking efficiency or walking stability based on environmental risk

The paper shows humans adjust step length to balance walking efficiency and stability based on environmental risk.

An individualized causal framework for learning intercellular communicationnetworks that define microenvironments of individual tumors

The paper develops a causal framework to identify tumor-specific intercellular communication networks in head and neck squamous cell carcinoma, revealing subtype-specific patterns linked to clinical outcomes.

Prime-boost vaccination regimens with INO-4800 and INO-4802 augment and broaden immune responses against SARS-CoV-2 in nonhuman primates

Acoustic Force Spectroscopy Reveals Subtle Differences in Cellulose Unbinding Behavior of Carbohydrate-Binding Modules

This paper uses acoustic force spectroscopy to study how carbohydrate-binding modules (CBMs) unbind from nanocellulose surfaces, revealing distinct binding conformations and their impact on cellulolytic activity.

Using Deep Learning to Count Monarch Butterflies in Dense Clusters

This paper develops a deep learning tool to count monarch butterflies in dense clusters, achieving high accuracy and releasing an annotated dataset for conservation use.

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

This study investigates how RBM20 mutations affect splicing and ribonucleoprotein granules in cardiomyopathy, revealing distinct pathogenic mechanisms between missense and knockout mutations.

Multiple Sites on SARS-CoV-2 Spike Protein are Susceptible to Proteolysis by Cathepsins B, K, L, S, and V

This study identifies multiple SARS-CoV-2 spike protein sites susceptible to cleavage by cathepsins B, K, L, S, and V using computational and experimental methods.

12-Lipoxygenase Governs the Innate Immune Pathogenesis of Islet Inflammation and Autoimmune Diabetes

This study shows that 12-LOX promotes islet inflammation and autoimmune diabetes by enhancing macrophage infiltration and migration via CXCR3.

Aryl hydrocarbon receptor and TGF-β inducible early gene mediate a transcriptional axis modulating immune homeostasis in mosquitoes

This study identifies AhR and TIEG as a transcriptional axis modulating immune homeostasis in mosquitoes, showing their roles in immune response regulation through gene networks involving sugar metabolism and circadian rhythms.

Expression of Tim-3 drives naive Treg to an effector-like state with enhanced suppressive activity

The paper shows that Tim-3 expression in Treg cells drives them to an effector-like state with enhanced suppressive activity, promoting tumor growth.

Evolutionary dynamics of sex-biased genes expressed in cricket brains and gonads

This study examines sex-biased gene expression and protein evolution in cricket brains and gonads, finding accelerated evolution in testis-biased genes and sex-biased brain genes.

A simple device to immobilize protists for electrophysiology and microinjection

The paper describes a device to immobilize motile protists for electrophysiology and microinjection, demonstrating its use in recording action potentials and dye injection.

Disparities in information on Long-Acting Reversible Contraceptives available to college students on student health center websites in USA

The paper examines disparities in LARC contraceptive information availability on college student health center websites in the USA, finding limited coverage and organizational inconsistencies.

Evidence of multifaceted functions of codon usage in translation within the model beetle Tribolium castaneum

This study investigates codon usage in Tribolium castaneum, revealing tissue-specific and non-optimal codon roles in translation and gene regulation.

Highly diverse Asgard archaea participate in organic matter degradation in coastal sediments

This study identifies a new Asgard archaeal phylum, Gerdarchaeota, and shows their role in organic matter degradation in coastal sediments through genomic and transcriptomic analysis.

Absence of a faster-X effect in beetles (Tribolium, Coleoptera)

This study finds no faster-X effect in beetles, suggesting high constraint on X-linked ovary-biased genes and lack of dosage compensation in testis.

Wolbachia pipientis occurs in Aedes aegypti populations in New Mexico and Florida, USA

The study detects Wolbachia in wild Ae. aegypti mosquitoes from New Mexico and Florida, but not in Texas, and identifies the wAlbB strain.

CO2 conversion to methane and biomass in obligate methylotrophic methanogens in marine sediments

The paper shows that obligate methylotrophic methanogens in marine sediments can use CO2 to produce methane and incorporate significant amounts of dissolved inorganic carbon into lipids.

Molecular evolution of DNMT1 in vertebrates: duplications in marsupials followed by positive selection

The paper studies the molecular evolution of DNMT1 in 79 vertebrates, finding duplications in marsupials and evidence of positive selection in one copy.