102 results found
    1. Genetics and Genomics

    Rare variants contribute disproportionately to quantitative trait variation in yeast

    Joshua S Bloom et al.
    Rare, evolutionarily recent variants have larger effect sizes and are more likely to decrease fitness, providing evidence that quantitative traits in yeast have evolved under purifying selection.
    1. Cancer Biology
    2. Genetics and Genomics

    Antigen presentation and tumor immunogenicity in cancer immunotherapy response prediction

    Shixiang Wang et al.
    Tumor immunogenicity is quantified with a novel method, and the resulting tumor immunogenicity score is an effective tumor-inherent biomarker for prediction of response to immune checkpoint inhibitors.
    1. Genetics and Genomics
    2. Immunology and Inflammation

    SCGN deficiency results in colitis susceptibility

    Luis F Sifuentes-Dominguez et al.
    A novel mutation in SCGN is associated with risk for inflammatory bowel disease and implicates the intestinal neuroendocrine compartment in the pathogenesis of this disorder.
    1. Human Biology and Medicine
    2. Microbiology and Infectious Disease

    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

    Jingwei Zeng et al.
    Studying the impact of natural variation on a key immune gene highlights how focusing on a single wild-type sequence overlooks that rare variants cause the most disease.
    1. Cancer Biology

    FAK activity sustains intrinsic and acquired ovarian cancer resistance to platinum chemotherapy

    Carlos J Diaz Osterman et al.
    Genomic gains in ovarian cancer can promote cisplatin resistance via a FAK, Wnt/beta-catenin and Myc signaling pathway supporting pluripotency genes and tumorspheres that can acquire FAK dependence for survival.
    1. Cancer Biology

    R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma

    Jeroen Overman et al.
    Identification of the R(+)-propranolol enantiomer as an inhibitor of the SOX18 transcription factor activity breaks open potential of drug repurposing in vascular diseases.
    1. Developmental Biology
    2. Genetics and Genomics

    Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

    Samuel Andrew Malone et al.
    Mouse in vivo and in vitro analysis and human genetic screening highlight the role of anti-Müllerian hormone (AMH) signaling in GnRH neuronal development and function, and identify mutations in AMH and AMHR2 in CHH patients.
    1. Developmental Biology

    Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

    Marshall Lukacs et al.
    Anchoring of proteins to the cell membrane through the glycosylphosphatidylinositol (GPI) anchor is critical for the survival of the cells that will give rise to the brain and face.
    1. Developmental Biology
    2. Human Biology and Medicine

    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

    Holly Hardy et al.
    Chick optic fissure closure is a powerful new model system for epithelial fusion and has revealed Netrin-1 as a conserved and essential mediator of tissue fusion in multiple contexts.
    1. Cancer Biology
    2. Cell Biology

    Human pancreatic cancer cell exosomes, but not human normal cell exosomes, act as an initiator in cell transformation

    Karoliina Stefanius et al.
    Exosomes secreted from pancreatic cancer cells can function as a classic initiator in the multi-step cellular transformation process.

Refine your results by:

Type
Research categories