Nature Search

Brefeldin A inhibits Golgi membrane-catalysed exchange of guanine nucleotide onto ARF protein

Julie G. Donaldson
Dario Finazzi
Richard D. Klausner
Research26 Nov 1992
Nature

Volume: 360, P: 350-352
Arf6 controls retromer traffic and intracellular cholesterol distribution via a phosphoinositide-based mechanism

The small GTPase Arf6 regulates intracellular transport, phosphoinositide signalling and cholesterol homeostasis. Here, Marquer et al. show that loss of Arf6 causes cholesterol accumulation in endosomes due to defects in phosphoinositide-dependent retromer-mediated trafficking of CI-M6PR and NPC2.

Catherine Marquer
Huasong Tian
Gilbert Di Paolo
ResearchOpen Access23 Jun 2016
Nature Communications

Volume: 7, P: 1-14
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
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
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
Genes of the serotonergic and dopaminergic pathways and their interaction affect the expression of Behavioural and Psychological Symptoms in Dementia (BPSD).

Petroula Proitsi
Michelle Lupton
John Powell
ResearchOpen Access26 Oct 2009
Nature Precedings

P: 1
Erratum: ARF family G proteins and their regulators: roles in membrane transport, development and disease

Julie G. Donaldson
Catherine L. Jackson
Amendments and Corrections22 Jul 2011
Nature Reviews Molecular Cell Biology

Volume: 12, P: 533
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
Amendments and CorrectionsOpen Access11 Jul 2023
Nature

Volume: 619, P: E61
Mapping the cellular basis of species differences in oxytocin and dopamine receptor expression in the vole nucleus accumbens

Meredith K. Loth
Julia C. Schmidt
Zoe R. Donaldson
ResearchOpen Access24 Jul 2025
Scientific Reports

Volume: 15, P: 1-15
ARF family G proteins and their regulators: roles in membrane transport, development and disease

The ADP-ribosylation factor (ARF) and ARF-like (ARL) family of G proteins, which are known to regulate membrane traffic and organelle structure, are emerging as regulators of diverse processes, including lipid and cytoskeletal transport. Although traditionally viewed as part of a linear signalling pathway, ARFs and their regulators must now be considered to exist within functional networks, in which both the 'inactive' ARF and the regulators themselves can mediate distinct effects.

Julie G. Donaldson
Catherine L. Jackson
Reviews18 May 2011
Nature Reviews Molecular Cell Biology

Volume: 12, P: 362-375
Pathways and mechanisms of endocytic recycling

Studies of cargo proteins that are internalized independently of clathrin have revealed new pathways and mechanisms of endocytic recycling. Precise temporal and spatial regulation of recycling pathways is crucial for various cellular processes, including cytokinesis, cell adhesion, morphogenesis, cell fusion, learning and memory.

Barth D. Grant
Julie G. Donaldson
Reviews01 Sept 2009
Nature Reviews Molecular Cell Biology

Volume: 10, P: 597-608
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Openshaw and colleagues find myeloid inflammation and complement activation signatures in patients with long COVID who were previously hospitalized.

Felicity Liew
Claudia Efstathiou
J. Eunice Zhang
ResearchOpen Access08 Apr 2024
Nature Immunology

Volume: 25, P: 607-621
Commensal Bacteroidetes protect against Klebsiella pneumoniae colonization and transmission through IL-36 signalling

Commensal-colonization-factor-producing Bacteroidetes protect against Klebsiella pneumoniae colonization and infection in the gut via IL-36 signalling and macrophages, and these commensals can limit transmission between hosts, whereas Proteobacteria are important for colonization resistance in the upper airway.

Richard P. Sequeira
Julie A. K. McDonald
Thomas B. Clarke
Research06 Jan 2020
Nature Microbiology

Volume: 5, P: 304-313
Expanded encyclopaedias of DNA elements in the human and mouse genomes

The authors summarize the data produced by phase III of the Encyclopedia of DNA Elements (ENCODE) project, a resource for better understanding of the human and mouse genomes.

Federico Abascal
Reyes Acosta
Zhiping Weng
ResearchOpen Access29 Jul 2020
Nature

Volume: 583, P: 699-710
The contribution of X-linked coding variation to severe developmental disorders

Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

Hilary C. Martin
Eugene J. Gardner
Matthew E. Hurles
ResearchOpen Access27 Jan 2021
Nature Communications

Volume: 12, P: 1-13
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Prevalence and architecture of de novo mutations in developmental disorders

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

Jeremy F. McRae
Stephen Clayton
Matthew E. Hurles
Research25 Jan 2017
Nature

Volume: 542, P: 433-438
Evidence for 28 genetic disorders discovered by combining healthcare and research data

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

Joanna Kaplanis
Kaitlin E. Samocha
Kyle Retterer
Research14 Oct 2020
Nature

Volume: 586, P: 757-762
TAK1 mediates microenvironment-triggered autocrine signals and promotes triple-negative breast cancer lung metastasis

Therapeutic options for triple-negative breast cancer (TNBC) metastasis are limited. Here they show nanoparticle-mediated delivery of TAK1 inhibitor 5Z-7-Oxozeaenol to inhibit TNBC lung metastasis in mice, and that TAK1 might promote TNBC cell adaptation in lung microenvironment by positive feedback mediated by P38 signaling.

Oihana Iriondo
Yarong Liu
Min Yu
ResearchOpen Access18 May 2018
Nature Communications

Volume: 9, P: 1-10
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer
Amendments and CorrectionsOpen Access01 Apr 2020
Genetics in Medicine

Volume: 22, P: 1129
Membrane–cytoskeletal dynamics in a new dimension

John E. Heuser
Julie G. Donaldson
News & Views01 Jun 2001
Nature Cell Biology

Volume: 3, P: E140-E142
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer
ResearchOpen Access03 Mar 2020
Genetics in Medicine

Volume: 22, P: 1005-1014
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
The BioPAX community standard for pathway data sharing

Incompatible data storage formats have hindered the sharing and analyses of digital representations of biological pathways. BioPAX is a standardized language supported by >40 databases and software tools for exchanging pathway data.

Emek Demir
Michael P Cary
Gary D Bader
Reviews09 Sept 2010
Nature Biotechnology

Volume: 28, P: 935-942
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Richard Houlston and colleagues report a genome-wide association study for colorectal cancer. They report three loci newly associated with colorectal cancer, bringing the total number of common susceptibility loci to 20.

Malcolm G Dunlop
Sara E Dobbins
Richard S Houlston
Research27 May 2012
Nature Genetics

Volume: 44, P: 770-776
Author Correction: Perspectives on ENCODE

Federi Bronwen co Abascal
Reyes Acosta
Richard M. Myers
Amendments and CorrectionsOpen Access26 Apr 2022
Nature

Volume: 605, P: E4
Perspectives on ENCODE

The authors summarize the history of the ENCODE Project, the achievements of ENCODE 1 and ENCODE 2, and how the new data generated and analysed in ENCODE 3 complement the previous phases.

Federico Abascal
Reyes Acosta
Richard M. Myers
Reviews29 Jul 2020
Nature

Volume: 583, P: 693-698
Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes

Federico Abascal
Reyes Acosta
Zhiping Weng
Amendments and CorrectionsOpen Access26 Apr 2022
Nature

Volume: 605, P: E3
AI is a viable alternative to high throughput screening: a 318-target study

Izhar Wallach
Denzil Bernard
Abraham Heifets
ResearchOpen Access02 Apr 2024
Scientific Reports

Volume: 14, P: 1-16
Author Correction: AI is a viable alternative to high throughput screening: a 318-target study

Izhar Wallach
Denzil Bernard
Ellie Giles
Amendments and CorrectionsOpen Access16 Sept 2024
Scientific Reports

Volume: 14, P: 1-2

Search

Brefeldin A inhibits Golgi membrane-catalysed exchange of guanine nucleotide onto ARF protein

Arf6 controls retromer traffic and intracellular cholesterol distribution via a phosphoinositide-based mechanism

Mapping the human genetic architecture of COVID-19

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Whole-genome sequencing reveals host factors underlying critical COVID-19

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

Genes of the serotonergic and dopaminergic pathways and their interaction affect the expression of Behavioural and Psychological Symptoms in Dementia (BPSD).

Erratum: ARF family G proteins and their regulators: roles in membrane transport, development and disease

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Mapping the cellular basis of species differences in oxytocin and dopamine receptor expression in the vole nucleus accumbens

ARF family G proteins and their regulators: roles in membrane transport, development and disease

Pathways and mechanisms of endocytic recycling

Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Commensal Bacteroidetes protect against Klebsiella pneumoniae colonization and transmission through IL-36 signalling

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The contribution of X-linked coding variation to severe developmental disorders

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Prevalence and architecture of de novo mutations in developmental disorders

Evidence for 28 genetic disorders discovered by combining healthcare and research data

TAK1 mediates microenvironment-triggered autocrine signals and promotes triple-negative breast cancer lung metastasis

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Membrane–cytoskeletal dynamics in a new dimension

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

The BioPAX community standard for pathway data sharing

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Author Correction: Perspectives on ENCODE

Perspectives on ENCODE

Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes

AI is a viable alternative to high throughput screening: a 318-target study

Author Correction: AI is a viable alternative to high throughput screening: a 318-target study

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