Browse the search results

Pathogenic mutations in KIF22, which dominantly cause bone dysplasia, improperly activate the motor during anaphase in dividing cells leading to chromosome recongression.

A novel BAC226Q mouse recapitulating robust, age-dependent, progressive Huntington’s disease (HD)-like phenotypes will be a valuable tool for studying disease mechanisms, identifying biomarkers, and testing gene-targeting therapeutic approaches for HD.

Latent gammaherpesvirus infection predisposes mice to develop more severe disease following induction of arthritis by elevating pathogenic interferon-gamma-expressing age-associated B cells.

Cellular immunological and biochemical analyses reveal how decoy IL-1RII is induced by human CD4⁺ T cells upon TCR-stimulation and regulates the Th17-Treg balance by modulating IL-1β responsiveness in IL-1RI⁺ cells.

A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.

Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.

The IgG4 subclass, previously considered anti-inflammatory due to its weak effector function, could either reduce or exacerbate autoantibody pathogenicity in the context of different IgG4-mediated autoimmune diseases.

A comprehensive package for pedigree-based risk modeling, with a highly optimized computational back-end, extends existing models beyond syndrome-specific approaches and incorporates data from panel studies by allowing for an arbitrary number of gene and syndrome associations.

Degradation of a mitotic inducer coordinates the transition of two successive cell cycle arrests during the infective process of a plant pathogenic fungus.

Striatal cholinergic interneurons and astrocytes lose cilia and show dysregulation of Hedgehog signaling in mice with a Parkinson's disease-associated, G2019S LRRK2 mutation or upon loss of PPM1H phosphatase specific for LRRK2-phosphorylated Rab GTPases.