Nature Search

Mechanistic insights into the structure-based design of a CspZ-targeting Lyme disease vaccine

The outer surface protein CspZ is a potential vaccine candidate of Borrelia burgdorferi for Lyme disease prevention. Here, using structure-based design, the authors generate a mutant CspZ protein with increased stability and improved immunogenicity, exposing protective epitopes.

Kalvis Brangulis
Jill Malfetano
Yi-Pin Lin
ResearchOpen Access07 Apr 2025
Nature Communications

Volume: 16, P: 1-16
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models

Loss-of-function mutations in Myosin Binding Protein C3, MYBPC3, are the most common genetic cause of hypertrophic cardiomyopathy. Here, the authors present an AAV9-based gene therapy system with an optimized expression cassette with minimal promoter and cis-regulatory elements that can ameliorate cardiac functions and prolong survival in a murine MYBPC3-deficient model.

Amara Greer-Short
Anna Greenwood
Laura M. Lombardi
ResearchOpen Access04 Mar 2025
Nature Communications

Volume: 16, P: 1-18
Macrophage and neutrophil heterogeneity at single-cell spatial resolution in human inflammatory bowel disease

Chronic intestinal inflammatory diseases including ulcerative colitis and Crohn’s disease display extensive heterogeneity in the immunopathology, disease manifestation and response to treatment. Here the authors apply single cell transcriptomic and spatial molecular imaging, and characterise macrophage and neutrophils in samples from patients with inflammatory bowel diseases.

Alba Garrido-Trigo
Ana M. Corraliza
Azucena Salas
ResearchOpen Access26 Jul 2023
Nature Communications

Volume: 14, P: 1-18
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Impaired striatal glutathione–ascorbate metabolism induces transient dopamine increase and motor dysfunction

Malik, Guo et al. show that Ntrk2/Trkb-mediated neurotrophic signalling regulates dopamine levels by controlling glutathione–ascorbate metabolism, thus impacting striatal dopaminergic circuits and motor function

Mohd Yaseen Malik
Fei Guo
Liliana Minichiello
ResearchOpen Access28 Oct 2024
Nature Metabolism

Volume: 6, P: 2100-2117
Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Whether microglial activation constitutes a primary pathological event in synucleinopathies is not known. Here, the authors generated a mouse model over-expressing α-synuclein in microglial cells and found these mice developed progressive dopaminergic neuron degeneration and microglia developed a reactive, pro-inflammatory state with phagocytic exhaustion.

Simone Bido
Sharon Muggeo
Vania Broccoli
ResearchOpen Access29 Oct 2021
Nature Communications

Volume: 12, P: 1-15
Fatty acid synthesis is required for breast cancer brain metastasis

Ferraro et al. report that fatty acid synthesis is needed for brain cancer metastasis and show that blocking this process by inhibiting fatty acid synthase reduces the metastatic growth of breast cancer cells in the brain.

Gino B. Ferraro
Ahmed Ali
Matthew G. Vander Heiden
Research01 Apr 2021
Nature Cancer

Volume: 2, P: 414-428
The vacuolar iron transporter mediates iron detoxification in Toxoplasma gondii

Iron is essential to cells, however without correct storage can lead to cell damage. Aghabi et al. show that the vacuolar iron transporter (VIT) is required for iron storage in the parasite Toxoplasma gondii. They find VIT protects against iron toxicity and has a role in parasite virulence.

Dana Aghabi
Megan Sloan
Clare R. Harding
ResearchOpen Access20 Jun 2023
Nature Communications

Volume: 14, P: 1-19
FGF6 and FGF9 regulate UCP1 expression independent of brown adipogenesis

Uncoupling protein-1 (UCP1) plays a central role in energy dissipation in brown adipose tissue. Here the authors show that FGF6 and FGF9 induce UCP1 expression in adipocytes and preadipocytes, via modulation of a transcriptional network that is dissociated from brown adipogenesis.

Farnaz Shamsi
Ruidan Xue
Yu-Hua Tseng
ResearchOpen Access17 Mar 2020
Nature Communications

Volume: 11, P: 1-16
Comparing alignment and de-novo approaches for gut microbiota metagenomic data analysis reveals differences in taxonomic resolution and novel functional insights

Polina Kuzmichenko
Dmitry Fedorov
Elena Ilina
ResearchOpen Access27 Nov 2025
Scientific Reports

Volume: 15, P: 1-17
Ascorbate regulates haematopoietic stem cell function and leukaemogenesis

Ascorbate depletion in mice increased haematopoietic stem-cell frequency and promoted leukaemogenesis, partly by reducing the function of the Tet2 tumour suppressor enzyme.

Michalis Agathocleous
Corbin E. Meacham
Sean J. Morrison
Research21 Aug 2017
Nature

Volume: 549, P: 476-481
An environmental justice analysis of air pollution emissions in the United States from 1970 to 2010

Here the authors find socioeconomic and racial/ethnic disparities in county-level air pollution emissions reductions in the 40 years following the Clean Air Act (1970-2010) in the USA, particularly in emissions from energy generation and industry.

Yanelli Nunez
Jaime Benavides
Marianthi-Anna Kioumourtzoglou
ResearchOpen Access17 Jan 2024
Nature Communications

Volume: 15, P: 1-13
AMBRA1 regulates cyclin D to guard S-phase entry and genomic integrity

AMBRA1-mediated degradation of cyclin D through CRL4–DDB1 regulates cell proliferation and prevents replication stress in neurodevelopment and cancer.

Emiliano Maiani
Giacomo Milletti
Francesco Cecconi
Research14 Apr 2021
Nature

Volume: 592, P: 799-803
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

An integrated analysis of de novo and inherited coding variants in 42,607 individuals with autism spectrum disorder identifies 60 risk genes of which five have not previously been associated with neurodevelopmental disorders.

Xueya Zhou
Pamela Feliciano
Wendy K. Chung
ResearchOpen Access18 Aug 2022
Nature Genetics

Volume: 54, P: 1305-1319
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Circular RNA differential expression in blood cell populations and exploration of circRNA deregulation in pediatric acute lymphoblastic leukemia

Enrico Gaffo
Elena Boldrin
Stefania Bortoluzzi
ResearchOpen Access11 Oct 2019
Scientific Reports

Volume: 9, P: 1-12
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
Comparison of the Effects of Valsartan and Felodipine on Plasma Leptin and Insulin Sensitivity in Hypertensive Obese Patients

Roberto Fogari
Giuseppe Derosa
Paola Preti
Research01 Mar 2005
Hypertension Research

Volume: 28, P: 209-214
Changes in bone turnover markers and bone modulators during abatacept treatment

Giovanni Adami
Giovanni Orsolini
Davide Gatti
ResearchOpen Access11 Oct 2023
Scientific Reports

Volume: 13, P: 1-10
Clonally selected primitive endothelial cells promote occlusive pulmonary arteriopathy and severe pulmonary hypertension in rats exposed to chronic hypoxia

Aneel R. Bhagwani
Daniela Farkas
Laszlo Farkas
ResearchOpen Access24 Jan 2020
Scientific Reports

Volume: 10, P: 1-15
Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device

Cameron Kirk
Arne Küderle
Linda Van Gelder
ResearchOpen Access19 Jan 2024
Scientific Reports

Volume: 14, P: 1-23
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

A very small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them, known as N-of-1 therapies. This Review discusses advances and challenges for N-of-1 therapies based on cases in which they have been successfully developed, highlights why the traditional drug development and reimbursement pathway is not fit for purpose in this field, and provides a roadmap for the development of these individualized therapies.

Anneliene H. Jonker
Elena-Alexandra Tataru
Annemieke Aartsma-Rus
Reviews04 Nov 2024
Nature Reviews Drug Discovery

Volume: 24, P: 40-56
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Pamela Feliciano
Xueya Zhou
Wendy K. Chung
ResearchOpen Access23 Aug 2019
npj Genomic Medicine

Volume: 4, P: 1-14
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

W. Reid Thompson
Brittany Hornby
Hilary J. Vernon
ResearchOpen Access20 Oct 2020
Genetics in Medicine

Volume: 23, P: 471-478
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Gabrielle Rudolf
Gaetan Lesca
Pierre Szepetowski
Research29 Jun 2016
European Journal of Human Genetics

Volume: 24, P: 1761-1770
Innovations and ongoing challenges in digital technologies for Parkinson’s disease

Ryan T. Roemmich
Elena Moro
Peter B. Shull
EditorialOpen Access27 Mar 2025
npj Parkinson's Disease

Volume: 11, P: 1
Author Correction: Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device

Cameron Kirk
Arne Küderle
Linda Van Gelder
Amendments and CorrectionsOpen Access21 Nov 2024
Scientific Reports

Volume: 14, P: 1-3
White Matter Alterations in Deficit Schizophrenia

Laura M Rowland
Elena A Spieker
Robert W Buchanan
Research03 Dec 2008
Neuropsychopharmacology

Volume: 34, P: 1514-1522

Search

Mechanistic insights into the structure-based design of a CspZ-targeting Lyme disease vaccine

Mapping the human genetic architecture of COVID-19

AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models

Macrophage and neutrophil heterogeneity at single-cell spatial resolution in human inflammatory bowel disease

A second update on mapping the human genetic architecture of COVID-19

Impaired striatal glutathione–ascorbate metabolism induces transient dopamine increase and motor dysfunction

Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

Fatty acid synthesis is required for breast cancer brain metastasis

The vacuolar iron transporter mediates iron detoxification in Toxoplasma gondii

FGF6 and FGF9 regulate UCP1 expression independent of brown adipogenesis

Comparing alignment and de-novo approaches for gut microbiota metagenomic data analysis reveals differences in taxonomic resolution and novel functional insights

Ascorbate regulates haematopoietic stem cell function and leukaemogenesis

An environmental justice analysis of air pollution emissions in the United States from 1970 to 2010

AMBRA1 regulates cyclin D to guard S-phase entry and genomic integrity

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Genetic mechanisms of critical illness in COVID-19

Circular RNA differential expression in blood cell populations and exploration of circRNA deregulation in pediatric acute lymphoblastic leukemia

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Comparison of the Effects of Valsartan and Felodipine on Plasma Leptin and Insulin Sensitivity in Hypertensive Obese Patients

Changes in bone turnover markers and bone modulators during abatacept treatment

Clonally selected primitive endothelial cells promote occlusive pulmonary arteriopathy and severe pulmonary hypertension in rats exposed to chronic hypoxia

Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Innovations and ongoing challenges in digital technologies for Parkinson’s disease

Author Correction: Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device

White Matter Alterations in Deficit Schizophrenia

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