149 results found
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
    1. Neuroscience
    2. Physics of Living Systems

    Analysis of stochastic fluctuations in responsiveness is a critical step toward personalized anesthesia

    Andrew R McKinstry-Wu et al.
    Responses to anesthetics differ among individuals and fluctuate stochastically despite constant drug concentration, however, the amount of noise driving transitions between the responsive and the unresponsive state is conserved.
    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    1. Biochemistry and Chemical Biology
    2. Cancer Biology

    Targeted degradation of BRD9 reverses oncogenic gene expression in synovial sarcoma

    Gerard L Brien et al.
    BRD9 provides the first actionable therapeutic target in synovial sarcoma tumours that is both biochemically and functionally linked to the SS18-SSX fusion protein which drives disease development.
    1. Genetics and Genomics

    Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    Aline Jelenkovic et al.
    Genetic variance of adult human height shows a generally increasing trend across the birth-year cohorts but heritability estimates do not present any clear pattern of secular changes over a century.
    1. Cell Biology
    2. Evolutionary Biology

    Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism

    Matteo Fumagalli et al.
    Natural selection shaped CHC22 clathrin genetic variation in humans with different diets and potentially influenced the human insulin response.
    1. Neuroscience

    Introduction to the EQIPD quality system

    Anton Bespalov et al.
    A system has been developed that supports generation of reliable basic biomedical research data while being open-access and lean with no negative impact on freedom of scientific exploration.
    1. Developmental Biology

    Meru couples planar cell polarity with apical-basal polarity during asymmetric cell division

    Jennifer J Banerjee et al.
    Meru is a factor that provides tissue-specific information to the core polarity machinery by linking planar to apical-basal polarity in asymmetrically dividing sensory organ precursors.
    1. Epidemiology and Global Health

    Mendelian randomization analysis provides causality of smoking on the expression of ACE2, a putative SARS-CoV-2 receptor

    Hui Liu et al.
    Smoking, measured by both initiation and intensity, are significantly associated with an elevated expression level of ACE2 in multiple human tissues/organs, subsequently increasing the susceptibility and severity of COVID-19.
    1. Neuroscience

    Specific Neuroligin3–αNeurexin1 signaling regulates GABAergic synaptic function in mouse hippocampus

    Motokazu Uchigashima et al.
    Trans-synaptic protein interactions are required for synapse specification and function, and the combination between neuroligin3 and αneurexin1 controls inhibitory synaptic function in a splice isoform- and interneuron-specific manner.

Refine your results by:

Type
Research categories