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6,088 results found
    1. Genetics and Genomics

    Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

    Niko Välimäki et al.
    Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.
    1. Genetics and Genomics

    DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia

    Eilis Hannon et al.
    DNA methylation data can be harnessed to provide insights into molecular and phenotypic differences associated with the spectrum of psychosis diagnoses.
    1. Evolutionary Biology
    2. Microbiology and Infectious Disease

    Evolutionary stability of collateral sensitivity to antibiotics in the model pathogen Pseudomonas aeruginosa

    Camilo Barbosa et al.
    Evolutionary trade-offs enhance efficacy of antibiotic therapy by constraining bacterial adaptation in dependence of drug order and trade-off effect size.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Computational and Systems Biology
    2. Medicine

    Diagnostically relevant facial gestalt information from ordinary photos

    Quentin Ferry et al.
    An automatic computer vision analysis approach can assist in the diagnosis of rare genetic disorders by using ordinary photographs of patients.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

    Pille Hallast et al.
    In addition to its academic merits, characterizing the genetic determinants of male (in)fertility and identifying clinically actionable genetic variants can lead to improved diagnosis or even treatment of such conditions.
    1. Genetics and Genomics

    Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

    Tracy L McGregor et al.
    Lifelong HAO1 knockout was safe and without clinical phenotype in an identified healthy woman, de-risking a rare disease therapeutic approach through the power of naturally occurring human genetic variation.
    1. Cell Biology
    2. Computational and Systems Biology

    Science Forum: The Human Cell Atlas

    Aviv Regev et al.
    Advances in techniques for analysing single cells and tissues have inspired an international effort to create comprehensive reference maps of all human cells - the fundamental units of life - as a basis for both understanding human health and diagnosing, monitoring and treating disease.
    1. Cancer Biology
    2. Developmental Biology

    Targeting mutant RAS in patient-derived colorectal cancer organoids by combinatorial drug screening

    Carla S Verissimo et al.
    Libraries of patient-derived tumor organoids are a reliable and scalable model system that can help identify and optimize targeted therapies in a pre-clinical setting.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    In-host population dynamics of Mycobacterium tuberculosis complex during active disease

    Roger Vargas et al.
    Bulk whole genome sequencing data can be used to study the genetic variation present in pathogenic bacterial populations over the time-course of a single infection within a host.

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