6,842 results found
    1. Developmental Biology

    NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    Romaric Bouveret et al.
    Some NKX2-5 mutations that cause congenital heart disease retain transcriptional activity and can bind to many off-target genes, in part through their interactions with cofactors.
    1. Computational and Systems Biology
    2. Immunology and Inflammation

    Identifying the immune interactions underlying HLA class I disease associations

    Bisrat J Debebe et al.
    HLA class I-disease associations have been studied for decades; a new approach for investigating the underlying mechanism can overcome past problems with interpretation and help to understand the etiology of human diseases.
    1. Genetics and Genomics

    Obesity-linked suppression of membrane-bound O-acyltransferase 7 (MBOAT7) drives non-alcoholic fatty liver disease

    Robert N Helsley et al.
    Loss of function of membrane-bound O-acyltransferase 7 (MBOAT7), but not transmembrane channel-like 4 (TMC4), promotes hepatic steatosis.
    1. Computational and Systems Biology
    2. Immunology and Inflammation

    The kinase DYRK1A reciprocally regulates the differentiation of Th17 and regulatory T cells

    Bernard Khor et al.
    A chemical biology approach has identified the kinase DYRK1A as a new regulator of the inflammatory response.
    1. Cell Biology

    Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity

    Rachel A Battaglia et al.
    GFAP protein carries a distinct post-translational modification signature that facilitates its pathogenic accumulation and aggregation in astrocytes of patients who succumb to Alexander Disease very early in life.
    1. Chromosomes and Gene Expression

    Therapeutic effects of telomerase in mice with pulmonary fibrosis induced by damage to the lungs and short telomeres

    Juan Manuel Povedano et al.
    Telomerase gene therapy represents a novel effective treatment for pulmonary fibrosis associated with short telomeres by improving pulmonary function, decreasing inflammation and accelerating fiber disappearance in fibrotic lungs.
    1. Neuroscience
    2. Structural Biology and Molecular Biophysics

    Cryo-EM structure of alpha-synuclein fibrils

    Ricardo Guerrero-Ferreira et al.
    The alpha-synuclein fibril structure reported here buries residues 50-57 at the interface between its two protofilaments, suggesting that familial Parkinson's disease associated mutations in these residues lead to a structure not compatible with the one presented here.
    1. Medicine
    2. Neuroscience

    What is the true discharge rate and pattern of the striatal projection neurons in Parkinson’s disease and Dystonia?

    Dan Valsky et al.
    Aberrant striatal signaling does not induce drastic changes in the spontaneous discharge rate and pattern of the striatal projection neurons in Parkinson’s disease and Dystonia.
    1. Computational and Systems Biology
    2. Microbiology and Infectious Disease

    Extensive transmission of microbes along the gastrointestinal tract

    Thomas SB Schmidt et al.
    Microbial populations are continuous along the gastrointestinal tract, with increased transmission in colorectal cancer and rheumatoid arthritis patients.
    1. Genetics and Genomics

    Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

    Paul RHJ Timmers et al.
    Genomic associations with lifespan principally reflect heart disease/smoking/dementia but not other cancers, and distinguish lifespan differences of five years between top/bottom deciles of a score derived from DNA alone.

Refine your results by:

Type
Research categories