1,457 results found
    1. Cell Biology
    2. Neuroscience

    Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

    Wei-Hua Lee et al.
    The murine protein TMEM135 is a critical link between aging and age-dependent diseases.
    1. Genetics and Genomics

    Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes

    Andrew D Skol et al.
    Integrating gene expression with genetic association data provided insights into the functional relevance of genetic risk for a complex disease, thus implicating folliculin as a putative diabetic retinopathy susceptibility gene.
    1. Developmental Biology
    2. Neuroscience

    Large-scale phenotypic drug screen identifies neuroprotectants in zebrafish and mouse models of retinitis pigmentosa

    Liyun Zhang et al.
    Using a cross-species phenotypic drug discovery pipeline, compounds promoting rod photoreceptor survival in zebrafish and mouse models of retinitis pigmentosa were identified, evidence of additive effects of paired compounds and inhibition of PARP-dependent cell death suggest novel therapeutic strategies.
    1. Epidemiology and Global Health
    2. Medicine

    An agnostic study of associations between ABO and RhD blood group and phenome-wide disease risk

    Torsten Dahlén et al.
    The relationship between blood groups and disease is detangled, without preconceived ideas, using population-wide data, with millions of participants and lifetime follow-up, identifying not only previously known relationships but also new insights.
    1. Immunology and Inflammation

    Endothelial heterogeneity across distinct vascular beds during homeostasis and inflammation

    Ankit Jambusaria et al.
    Vascular endothelial cells in the brain, heart and lung exhibit tissue-specific heterogeneity and plasticity, expressing genes that were traditionally thought to be only expressed by the surrounding parenchymal tissue cells.
    1. Cell Biology
    2. Medicine

    eNOS-induced vascular barrier disruption in retinopathy by c-Src activation and tyrosine phosphorylation of VE-cadherin

    Takeshi Ninchoji et al.
    Vascular leakage from pathological vessels in retinopathy aggravates the disease, but endothelial junction stability and barrier integrity can be restored by blocking formation of nitric oxide.
    1. Cell Biology

    Apolipoprotein L-1 renal risk variants form active channels at the plasma membrane driving cytotoxicity

    Joseph A Giovinazzo et al.
    Cytotoxicity associated with APOL1 renal-risk variants occurs through its plasma-membrane localization, where aberrant channel activity drives a sustained sodium and calcium influx leading to cell swelling and eventually cell death.
    1. Cell Biology
    2. Neuroscience

    Isoform-specific subcellular localization and function of protein kinase A identified by mosaic imaging of mouse brain

    Ronit Ilouz et al.
    High-resolution, large-scale immunohistochemical mouse brain images showing global views of different brain regions, as well as cellular and subcellular details, identified distinct localization of PKA RIβ and RIIβ regulatory subunits that reveal functional differences.
    1. Neuroscience

    Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration

    Federica Storti et al.
    Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
    1. Structural Biology and Molecular Biophysics

    Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

    Yao Li et al.
    A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.

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