Browse the search results

Page 2 of 459
    1. Cell Biology

    Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study

    Christi T Salisbury-Ruf et al.
    An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.
    1. Genetics and Genomics

    Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

    Prithvi Raj et al.
    Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin et al.
    Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.
    1. Chromosomes and Gene Expression

    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

    Meritxell Espino Guarch et al.
    SLC7A8 a neutral amino acid transporter has a key role in the maintenance of hearing during aging and its absence causes early onset of hearing loss.
    1. Neuroscience

    Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

    Magda L Atilano et al.
    Modulation of insulin signalling could be an effective therapeutic approach against hexanucleotide repeat expansion related to c9ALS/FTD neurodegenerative diseases.
    1. Microbiology and Infectious Disease

    Impact of HIV co-infection on the evolution and transmission of multidrug-resistant tuberculosis

    Vegard Eldholm et al.
    HIV co-infection does not affect Mycobacterium tuberculosis mutation rates and does not drive the emergence of antimicrobial resistance within patients in the largest outbreak of multidrug-resistant tuberculosis in Latin America to date.
    1. Neuroscience

    Mechanistic insights into a TIMP3-sensitive pathway constitutively engaged in the regulation of cerebral hemodynamics

    Carmen Capone et al.
    Extracellular matrix signaling constitutively regulates cerebral blood flow in both physiological and pathological settings.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

    Matteo D'Antonio et al.
    Analysis of the major histocompatibility complex using whole genome sequencing and RNA-seq data from hundreds of individuals provides novel insights into mechanisms underlying associations of this interval with disease.
    1. Medicine
    2. Neuroscience

    Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors

    Joshua S Talboom et al.
    An internet-based cohort study of paired associate learning shows that a first-degree family history of dementia is associated with lowered performance, an effect modified by apolipoprotein E genotype and diabetes.
    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.