1,030 results found
    1. Cell Biology

    A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

    Ramiro Nández et al.
    Studies of Lowe syndrome patient cells, which lack the inositol 5-phosphatase OCRL, suggest that a defect in endocytosis plays a role in the pathological manifestations of the disease.
    1. Chromosomes and Gene Expression
    2. Medicine

    A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome

    Jefferson J Doyle et al.
    Calcium channel blockers accelerate aortic aneurysm and cause premature aortic rupture in a mouse model of Marfan syndrome through protein kinase C-mediated activation of extracellular signal-regulated kinase.
    1. Structural Biology and Molecular Biophysics
    2. Chromosomes and Gene Expression

    Structure of the active form of human origin recognition complex and its ATPase motor module

    Ante Tocilj et al.
    The human Origin Replication Complex is shaped as a shallow corkscrew in a classic AAA+ organization reminiscent of clamp loader complexes with highly controlled ATPase activity as exemplified by Meier-Gorlin syndrome mutations.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome

    Yoong Wearn Lim et al.
    Global epigenetic perturbations and accumulation of RNA:DNA hybrids are two novel hallmarks of the lupus-like inflammatory disorder Aicardi-Goutières syndrome.
    1. Cell Biology
    2. Developmental Biology

    LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

    Laura Bozal-Basterra et al.
    LUZP1 is required for proper cilia and cytoskeleton formation.
    1. Chromosomes and Gene Expression

    Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome

    Srivarsha Rajshekar et al.
    Derepression of transcripts from hypomethylated pericentromeric repeats triggers an innate immune response in an animal model of Immunodeficency, Centromere and Facial anomalies (ICF) syndrome.
    1. Neuroscience

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Cemre Celen et al.
    Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.
    1. Neuroscience

    Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice

    Audrey A Mercer et al.
    Male and female mice differ in basal cerebellar physiology, including the magnitude of synaptic excitation by metabotropic glutamate receptors, kinetics of synaptic inhibition, intrinsic properties, and responses to autism-linked mutations.
    1. Genetics and Genomics
    2. Immunology and Inflammation

    PACT-mediated PKR activation acts as a hyperosmotic stress intensity sensor weakening osmoadaptation and enhancing inflammation

    Kenneth T Farabaugh et al.
    Changes in the interactome of the Rel family of transcription factors control adaptation to the environmental stress of hyperosmolarity and determine cell fate.
    1. Cell Biology
    2. Genetics and Genomics

    An integrative study of five biological clocks in somatic and mental health

    Rick Jansen et al.
    An integrative study of five biological clocks in somatic and mental health indicate that one's biological age is best reflected by combining aging measures from multiple cellular levels.

Refine your results by:

Type
Research categories