119 results found
    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. Biochemistry and Chemical Biology
    2. Chromosomes and Gene Expression

    Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

    Ilaria Gori et al.
    The mechanism underlying Shprintzen–Goldberg syndrome is solved and reveals that missense mutations in the transcriptional repressor SKI abolish ligand-induced SKI degradation, which results in attenuation of TGF-β transcriptional responses.
    1. Cell Biology
    2. Developmental Biology

    FBN-1, a fibrillin-related protein, is required for resistance of the epidermis to mechanical deformation during C. elegans embryogenesis

    Melissa Kelley et al.
    A fibrillin-related protein, FBN-1, is a key component of the apical extracellular matrix and prevents epidermal cell deformation by biomechanical forces during morphogenesis of the C. elegans embryo.
    1. Neuroscience

    One bout of neonatal inflammation impairs adult respiratory motor plasticity in male and female rats

    Austin D Hocker et al.
    A single neonatal inflammatory event induces long-term impairments in two forms of adult respiratory motor plasticity, an important aspect of the control of breathing for compensation after injury or disease.
    1. Cell Biology
    2. Developmental Biology

    The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals

    Tongchao Li et al.
    A novel mechanism links two myosins associated with deafness in auditory organs.
    1. Cell Biology

    Crumbs organizes the transport machinery by regulating apical levels of PI(4,5)P2 in Drosophila

    Johanna Lattner et al.
    The polarity protein crumbs controls apical secretion and the architecture of the apical domain by modulating PI(4,5)P2 levels and the organization of apical Rab6-, Rab11-, and Rab30-dependent trafficking.
    1. Developmental Biology

    Addressing the ethical issues raised by synthetic human entities with embryo-like features

    John Aach et al.
    Guidelines governing research into embryos need to be updated in a way that reflects the moral status of synthetic human entities generated using the methods of synthetic biology.
    1. Genetics and Genomics

    Science Forum: The single-cell eQTLGen consortium

    MGP van der Wijst et al.
    The single-cell eQTLGen consortium aims to pinpoint the cellular contexts in which disease-causing genetic variants affect gene expression and its regulation.
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Cell Biology
    2. Immunology and Inflammation

    Convalescent COVID-19 patients are susceptible to endothelial dysfunction due to persistent immune activation

    Florence WJ Chioh et al.
    COVID-19 survivors, who are at risk for vascular complications, would benefit from close monitoring and preventive therapy.

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