Diseases articles within Nature Communications

Featured

  • Article
    | Open Access

    Non-invasive early diagnosis of liver fibrosis is important to prevent disease progression and direct treatment strategies. Here the authors developed a collagen-targeting contrast agent for the detection of early stage fibrosis and non-alcoholic steatohepatitis by magnetic resonance and tested it in animal models.

    • Mani Salarian
    • , Ravi Chakra Turaga
    •  & Jenny J. Yang

  • Article
    | Open Access

    Autoreactive T cells are normally eliminated during their maturation in the thymus, but an unknown number of autoreactive CD4+ T cells escape to the periphery. Here the authors show, by comparing the T cell receptors of mice sufficient or deficient in CD4+Foxp3+ regulatory T (Treg) cells, that autoreactive and potentially pathogenic clones account for approximately one-third of the peripheral repertoire of CD4+Foxp3– cells.

    • Anna Cebula
    • , Michal Kuczma
    •  & Leszek Ignatowicz

  • Article
    | Open Access

    “Genome-wide association studies have identified variants associated with age-related macular degeneration (AMD); however, other than identifying this as a complement mediated inflammatory disease, little biology has emerged. Here, authors used novel computational tools from the Broad Institute to examine the relationship of single-cell transcriptomics and genome-wide association studies (GWAS) in the human retina and demonstrate that GWAS-associated risk alleles associated with AMD are enriched in glia and vascular cells and that human retinal glia are more diverse than previously thought

    • Madhvi Menon
    • , Shahin Mohammadi
    •  & Brian P. Hafler

  • Article
    | Open Access

    Food intake shapes intestinal microbiome composition, which in turn shapes adaptive immune responses. Here the authors show that dietary tryptophan restriction (DTR) protects mice from subsequent autoimmune neuropathology challenge by altering intestinal microbiota, highlighting the potential of diet-regulated microbiota to prevent immune pathology.

    • Jana K. Sonner
    • , Melanie Keil
    •  & Michael Platten

  • Article
    | Open Access

    Osteoarthritis results from the progressive destruction of cartilage matrix. Here, Kim et al. identify tankyrase as a regulator of cartilage matrix anabolism, and find that tankyrase inhibition, by preventing SOX9 PARylation, protects from cartilage destruction in a mouse model of osteoarthritis.

    • Sukyeong Kim
    • , Sangbin Han
    •  & Jin-Hong Kim

  • Article
    | Open Access

    Shigella sonnei is one of the main species causing shigellosis worldwide. Here the authors analyse nearly 400 S. sonnei genome sequences and carry out experimental evolution experiments to shed light into the evolutionary processes underlying the recent emergence of fluoroquinolone resistance in this pathogen.

    • Hao Chung The
    • , Christine Boinett
    •  & Stephen Baker

  • Article
    | Open Access

    Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.

    • S. J. Tavernier
    • , V. Athanasopoulos
    •  & F. Haerynck

  • Article
    | Open Access

    Using cervical explant models and cervical tissue from ART-suppressed HIV+ women, the authors here show that resident memory T cells (TRM) in the cervical mucosa are preferentially infected and harbor more viral DNA, RNA and protein than non-TRM, suggesting that TRM may serve as viral reservoir in the cervical mucosa.

    • Jon Cantero-Pérez
    • , Judith Grau-Expósito
    •  & Meritxell Genescà

  • Article
    | Open Access

    Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be associated with different gene functions.

    • W. Scott Watkins
    • , E. Javier Hernandez
    •  & Martin Tristani-Firouzi

  • Article
    | Open Access

    In a large prospective cohort of liver transplantation (LT) recipients, the authors identify associations between colonization by multidrug-resistant bacteria (MDRB) and microbiome dysbiosis pre- and post-LT, suggesting colonizing MDRB as an important target for microbiome-informed therapeutic approaches post-LT.

    • Medini K. Annavajhala
    • , Angela Gomez-Simmonds
    •  & Anne-Catrin Uhlemann

  • Article
    | Open Access

    The capacity to predict zoonotic disease outbreaks is hampered by data availability and complex relationships between humans, wildlife, and the environment. Here the authors present a modelling framework that identifies potential high-risk locations for Ebola outbreaks under various climatic, demographic, and land use scenarios.

    • David W. Redding
    • , Peter M. Atkinson
    •  & Kate E. Jones

  • Article
    | Open Access

    The Chlamydia pneumoniae adhesin LIPP plays a role in host cell entry and infection. Here, the authors find that LIPP binds to the host plasma membrane and mediates phosphatidylserine translocation, enhancing pathogen internalization without induction of apoptosis.

    • Jan N. Galle
    • , Tim Fechtner
    •  & Johannes H. Hegemann

  • Article
    | Open Access

    Bed nets treated with insecticides have been instrumental in reducing malaria mortality, but insecticide resistance is on the rise. Here, Mugenzi et al. identify genetic variants in the P450 gene CYP6P9b of Anopheles funestus that associate with insecticide resistance and develop a PCR-based diagnostic assay to help identify pyrethroid-resistant strains.

    • Leon M. J. Mugenzi
    • , Benjamin D. Menze
    •  & Charles S. Wondji

  • Article
    | Open Access

    Many human antibodies that neutralize Zika virus recognize quaternary epitopes on the envelope (E) protein. Here, Metz et al. engineer stable recombinant homodimers of Zika virus E protein and show that it induces neutralizing antibodies in mice that recognize similar epitopes as human antibodies from Zika infected people.

    • Stefan W. Metz
    • , Ashlie Thomas
    •  & Aravinda M. de Silva

  • Article
    | Open Access

    The success of engineered tissue depends on the integration of a dense vascular network to supply nutrients and remove waste products. Here the authors design high density microvascular meshes made through an anchored self-assembly mechanism, and use these meshes to support subcutaneous pancreatic islet survival in a mouse diabetes model.

    • Wei Song
    • , Alan Chiu
    •  & Minglin Ma

  • Article
    | Open Access

    Patients with liver diseases are at increased risk of fungal infections. Here the authors show that Kupffer cells are critical for the filtration of fungi out of the blood and thereby for liver-mediated protection against disseminating fungal infection.

    • Donglei Sun
    • , Peng Sun
    •  & Meiqing Shi

  • Article
    | Open Access

    Leflunomide is used for the treatment of rheumatoid arthritis. Here, the authors show that effectiveness is limited in patients with higher levels of serum c-reactive protein (CRP). Using animal models, they show that higher CRP induces HIF1a expression, which in turn interferes with Leflunomide signalling, and that effectiveness of the drug is restored when HIF1a is pharmacologically inhibited.

    • Chao Liang
    • , Jie Li
    •  & Aiping Lu

  • Article
    | Open Access

    Post-traumatic stress disorder (PTSD) is a common mental health problem. Here, the authors report a GWAS from the Psychiatric Genomics Consortium in which they identify two risk loci in European ancestry and one locus in African ancestry individuals and find that PTSD is genetically correlated with several other psychiatric traits.

    • Caroline M. Nievergelt
    • , Adam X. Maihofer
    •  & Karestan C. Koenen

  • Article
    | Open Access

    Here, Proto et al. show that human infective Plasmodium falciparum isolates contain an inactivating mutation in the erythrocyte invasion associated gene PfEBA165, while homologues of ape-infective Laverania species are intact, and that expression of intact PfEBA165 is incompatible with parasite growth in human erythrocytes.

    • William R. Proto
    • , Sasha V. Siegel
    •  & Julian C. Rayner

  • Article
    | Open Access

    Dystrophin-deficient mice are used to test corrective strategies for Duchenne muscular dystrophy, but evaluation of dystrophin expression requires collection of tissue samples from specific muscles and time points. Here, the authors generate mice in which dystrophin expression is coupled to luciferase, and show that bioluminescence allows non-invasive monitoring of dystrophin expression following genome editing.

    • Leonela Amoasii
    • , Hui Li
    •  & Eric N. Olson

  • Article
    | Open Access

    Necrotizing enterocolitis (NEC) is associated with severe neonatal morbidity. Here the authors show, mirroring the NEC phenotype, that IL-23 overexpression in neonates causes malabsorption and decreased expression of intestinal and pancreatic genes mediating food digestion and uptake through IL-22, which directly suppresses pancreatic cell differentiation.

    • Lili Chen
    • , Valentina Strohmeier
    •  & Glaucia C. Furtado

  • Article
    | Open Access

    Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.

    • Georgios Stamoulis
    • , Marco Garieri
    •  & Stylianos E. Antonarakis

  • Article
    | Open Access

    Solitary chemosensory cells (SCCs) expressing taste receptors reside in mucosal epithelia including the gingiva. Here the authors show that ablation of taste-sensing by SSCs leads to outgrowth of pathogenic oral bacteria and periodontitis, whereas bitter taste receptor stimulation promotes antimicrobial peptide production and ameliorates periodontitis.

    • Xin Zheng
    • , Marco Tizzano
    •  & Robert F. Margolskee

  • Article
    | Open Access

    Vectors used in gene therapy for hemoglobin disorders carry globin in a reverse-orientation to prevent the loss of key regulatory elements by RNA splicing, but this limits their efficiency. Here, the authors develop a vector carrying β-globin in a forward orientation and show that it has improved titers and transduction efficiency in humanized mice and nonhuman primates.

    • Naoya Uchida
    • , Matthew M. Hsieh
    •  & John F. Tisdale

  • Article
    | Open Access

    A recent GWAS reported 12 genetic loci for attention deficit/hyperactivity disorder (ADHD). Here, Liao et al. perform transcriptomic imputation using these data and 12 brain-relevant tissues from GTEx and CMC to identify 9 genes associated with ADHD by TWAS, 3 of which had not yet been reported for ADHD.

    • Calwing Liao
    • , Alexandre D. Laporte
    •  & Guy A. Rouleau

  • Article
    | Open Access

    ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with loss of KATP channel function.

    • Marie F. Smeland
    • , Conor McClenaghan
    •  & Gijs van Haaften

  • Article
    | Open Access

    How antibody reaches tissues from circulation is critical for understanding antibody-mediated immunity. Here the authors show that IgG extravasation in the skin is mediated by endothelial caveolin transport independently of FcR, and is targetable by imatinib, which reduces IgG-dependent pathology in a mouse model of pemphigus.

    • Sachiko Ono
    • , Gyohei Egawa
    •  & Kenji Kabashima

  • Article
    | Open Access

    MR-focused ultrasound can be used to transiently open the blood-brain barrier (BBB). Here, the authors report the results of a first-in-human trial on four patients with amyotrophic lateral sclerosis (ALS), showing that the procedure reversibly permeabilised the BBB in the motor cortex without complications, and suggest that the procedure could in the future be used to increase drug delivery in ALS patients.

    • Agessandro Abrahao
    • , Ying Meng
    •  & Lorne Zinman

  • Article
    | Open Access

    Antibiotic resistance is a major global health challenge. Here, the authors report on a thermoresponsive delivery system for combined photothermal and antibiotic delivery with fluorescent tracking abilities and demonstrate application against antibiotic resistant bacteria in vitro and in vivo.

    • Guangchao Qing
    • , Xianxian Zhao
    •  & Xing-Jie Liang

  • Article
    | Open Access

    Pfs25 is a transmission-blocking vaccine candidate for Plasmodium. Here, McLeod et al. analyze the antibody response to Pfs25 in sera from a clinical trial evaluating a Pfs25 vaccine candidate, identify a potent transmission-blocking antibody and determine recognized epitopes on Pfs25.

    • Brandon McLeod
    • , Kazutoyo Miura
    •  & Jean-Philippe Julien

  • Article
    | Open Access

    Here, Shah et al. perform a meta-analysis and show that people who live or work in agricultural land in Southeast Asia are on average 1.7 times more likely to be infected with a pathogen than controls, suggesting that agricultural land-use increases infectious disease risk.

    • Hiral A. Shah
    • , Paul Huxley
    •  & Kris A. Murray

  • Article
    | Open Access

    Invasive non-typhoidal Salmonella (iNTS) infections are dominated by antibiotic resistant isolates of the sequence type (ST) 313. Here, the authors identify the ST313 sublineage II.1 in the Democratic Republic of the Congo exhibiting extensive drug resistance and genetic signatures potentially associated with host adaptation.

    • Sandra Van Puyvelde
    • , Derek Pickard
    •  & Stijn Deborggraeve

  • Article
    | Open Access

    The precise mechanisms that lead to medication-overuse headaches (MOH), which can occur with both over-the-counter and prescription pain-relief medicines, are still uncertain. In this study, authors show that the abnormal activation of dural nociceptor Nav1.9 channels by Nitric Oxide is responsible for triptan-induced MOH, causing hyperexcitability of dural nociceptors and headache.

    • Caroline Bonnet
    • , Jizhe Hao
    •  & Patrick Delmas

  • Article
    | Open Access

    Allergic asthma symptoms may be controlled, but currently no effective therapy exist to address the underlying pathology. Here the authors show, using mouse model of adoptive cell transfer, that CD4-CD8- T cells can suppress the function of dendritic cells and T follicular helper cells via Lag3 to provide allergen-specific protection from asthma.

    • Dan Tian
    • , Lu Yang
    •  & Dong Zhang

  • Article
    | Open Access

    Amino acid biosynthetic pathways are an attractive alternative to treat chronic infections such as Mycobacterium tuberculosis (Mtb). Here, the authors investigate the metabolic response to disruption of the aspartate pathway in persistent Mtb and identify essential enzymes as potential new targets for drug development.

    • Erik J. Hasenoehrl
    • , Dannah Rae Sajorda
    •  & Michael Berney

  • Article
    | Open Access

    Brain oscillations may be disrupted in children with autism spectrum disorder. The authors performed a longitudinal study of electroencephalography recordings and found that EEG recordings from the first year after birth can distinguish healthy children from children with autism spectrum disorder.

    • Laurel J. Gabard-Durnam
    • , Carol Wilkinson
    •  & Charles A. Nelson

  • Article
    | Open Access

    HuR is an RNA-binding protein that regulates myotube differentiation in vitro. Here, the authors show that the muscle-specific ablation of HuR in mice leads to enhanced endurance capacity and an increase in oxidative fibres by destabilising PGC1α-mRNA, and show that the mice are protected against cancer cachexia

    • Brenda Janice Sánchez
    • , Anne-Marie K. Tremblay
    •  & Imed-Eddine Gallouzi

  • Article
    | Open Access

    The circadian clock affects immune responses, but its role in influenza infection is not well understood. Here, Sengupta et al. show that time of infection and the circadian clock have no effect on lung virus titers, but affect inflammation, morbidity and mortality.

    • Shaon Sengupta
    • , Soon Y. Tang
    •  & Garret A. FitzGerald

  • Article
    | Open Access

    Antibiotic therapy is usually not effective for salmonellosis. Here, the authors present an approach that may be useful for the treatment of salmonellosis, consisting of hydrogen sulfide (H2S)-responsive glycovesicles that release antibiotics in the presence of Salmonella in the gut.

    • Haibo Mu
    • , Hu Bai
    •  & Jinyou Duan

Browse broader subjects

Browse narrower subjects

Browse Diseases across other nature.com journals