Nature Search

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
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
What is New in Our Understanding of Perinatal Pulmonary Problems? Presidential Address to the Society for Pediatric Research, May 19, 1973

Mary Ellen Avery
Research01 Oct 1973
Pediatric Research

Volume: 7, P: 842-845
Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese

Sven Enerbäck
Anders Jacobsson
Leslie P. Kozak
Research01 May 1997
Nature

Volume: 387, P: 90-94
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
Adipose tissue reduction in mice lacking the translational inhibitor 4E-BP1

Kyoko Tsukiyama-Kohara
Francis Poulin
Nahum Sonenberg
Research01 Oct 2001
Nature Medicine

Volume: 7, P: 1128-1132
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
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
Naked mole-rat brown fat thermogenesis is diminished during hypoxia through a rapid decrease in UCP1

Naked mole-rats are hypoxia-tolerant mammals, and during hypoxia their body temperature decreases via unknown mechanisms. Here the authors report that the hypoxia-induced body temperature decrease in naked mole rats occurs through decreased brown adipose tissue thermogenesis via decreases in a key thermogenic mitochondrial protein: UCP1.

Hang Cheng
Rajaa Sebaa
Matthew E. Pamenter
ResearchOpen Access23 Nov 2021
Nature Communications

Volume: 12, P: 1-14
Genomic scale profiling of nutrient and trace elements in Arabidopsis thaliana

Brett Lahner
Jiming Gong
David E Salt
Research31 Aug 2003
Nature Biotechnology

Volume: 21, P: 1215-1221
Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
GDF15 promotes weight loss by enhancing energy expenditure in muscle

GDF15 treatment in mice counteracts compensatory reductions in energy expenditure, resulting in greater weight loss and reductions in non-alcoholic fatty liver disease compared to caloric restriction alone.

Dongdong Wang
Logan K. Townsend
Gregory R. Steinberg
ResearchOpen Access28 Jun 2023
Nature

Volume: 619, P: 143-150
Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Individuals show large variability in their capacity to lose weight and maintain this weight. Here, the authors perform GWAS in two weight loss intervention cohorts and identify two genetic loci associated with weight loss that are taken forward for Bayesian fine-mapping and functional assessment in flies.

Armand Valsesia
Qiao-Ping Wang
Jörg Hager
ResearchOpen Access01 Feb 2019
Nature Communications

Volume: 10, P: 1-10
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

Using holistic and reductionist approaches, Karunakaran et al. identify a causal association between higher expression of RIPK1 (a central regulator of inflammatory cell function) and the risk of obesity. RIPK1 induces activation of proinflammatory signalling in adipose tissue, promoting the accumulation of macrophages that drive metabolic inflammation and obesity simultaneously.

Denuja Karunakaran
Adam W. Turner
Katey J. Rayner
Research28 Sept 2020
Nature Metabolism

Volume: 2, P: 1113-1125
A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution

Robert W Davies
Paulina Lau
Ruth McPherson
Research17 Apr 2013
European Journal of Human Genetics

Volume: 21, P: 1417-1422
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
Acidosis overrides oxygen deprivation to maintain mitochondrial function and cell survival

In hypoxic conditions, cells depend on anaerobic respiration, which results in extracellular acidosis. Khacho et al.find that acidosis serves a protective function, enhancing mitochondrial respiratory capacity and sustaining ATP synthesis despite limited oxygen availability, by both promoting mitochondrial fusion and inhibiting fission.

Mireille Khacho
Michelle Tarabay
Ruth S. Slack
ResearchOpen Access01 Apr 2014
Nature Communications

Volume: 5, P: 1-15
SARS-CoV-2 evolution during treatment of chronic infection

Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Research05 Feb 2021
Nature

Volume: 592, P: 277-282
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Research11 Mar 2021
Nature

Volume: 593, P: 136-141
Publisher Correction: RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

Denuja Karunakaran
Adam W. Turner
Katey J. Rayner
Amendments and Corrections08 Oct 2020
Nature Metabolism

Volume: 2, P: 1181
Metabolic terminology: what’s in a name?

As the metabolism community has grown and diversified with scientists from multidisciplinary backgrounds, metabolic terminology has evolved and expanded. In this Comment, we reflect on this new vernacular and how established terminology can guide future discussions of metabolic research.

Mary-Ellen Harper
Mary-Elizabeth Patti
Comments & Opinion15 May 2020
Nature Metabolism

Volume: 2, P: 476-477
Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

Post-international travel quarantine has been widely implemented to mitigate SARS-CoV-2 transmission, but the impacts of such policies are unclear. Here, the authors used linked genomic and contact tracing data to assess the impacts of a 14-day quarantine on return to England in summer 2020.

Dinesh Aggarwal
Andrew J. Page
Ewan M. Harrison
ResearchOpen Access23 Feb 2022
Nature Communications

Volume: 13, P: 1-13
Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission

In this study, Aggarwal and colleagues perform prospective sequencing of SARS-CoV-2 isolates derived from asymptomatic student screening and symptomatic testing of students and staff at the University of Cambridge. They identify important factors that contributed to within university transmission and onward spread into the wider community.

Dinesh Aggarwal
Ben Warne
Ian G. Goodfellow
ResearchOpen Access08 Feb 2022
Nature Communications

Volume: 13, P: 1-16
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Genetic and testing data from England show that the SARS-CoV-2 variant of concern B.1.1.7 has a transmission advantage over other lineages.

Erik Volz
Swapnil Mishra
Neil M. Ferguson
Research25 Mar 2021
Nature

Volume: 593, P: 266-269
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Matthew A. Lines
Alexanne Cuillerier
Michael T. Geraghty
Research06 Sept 2021
European Journal of Human Genetics

Volume: 29, P: 1719-1724
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Jason R Vanstone
Amanda M Smith
Matthew A Lines
Research25 Nov 2015
European Journal of Human Genetics

Volume: 24, P: 1084-1088
The TNFα/TNFR2 axis mediates natural killer cell proliferation by promoting aerobic glycolysis

Abrar Ul Haq Khan
Alaa Kassim Ali
Seung-Hwan Lee
ResearchOpen Access09 Aug 2023
Cellular & Molecular Immunology

Volume: 20, P: 1140-1155
Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E24
Author Correction: SARS-CoV-2 evolution during treatment of chronic infection

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E23
Foxo3a tempers excessive glutaminolysis in activated T cells to prevent fatal gut inflammation in the murine IL-10^−/− model of colitis

Stephanie Hajjar
Nayanan Nathan
Subash Sad
Research29 Sept 2021
Cell Death & Differentiation

Volume: 29, P: 585-599
MCL-1^Matrix maintains neuronal survival by enhancing mitochondrial integrity and bioenergetic capacity under stress conditions

Ujval Anilkumar
Mireille Khacho
Ruth S. Slack
ResearchOpen Access05 May 2020
Cell Death & Disease

Volume: 11, P: 1-12
Obesity shows preserved plasma proteome in large independent clinical cohorts

Ornella Cominetti
Antonio Núñez Galindo
Loïc Dayon
ResearchOpen Access19 Nov 2018
Scientific Reports

Volume: 8, P: 1-13
A Signaling Lipid Associated with Alzheimer’s Disease Promotes Mitochondrial Dysfunction

Michael A. Kennedy
Tia C. Moffat
Kristin Baetz
ResearchOpen Access13 Jan 2016
Scientific Reports

Volume: 6, P: 1-11
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Cortical and subcortical brain structure in generalized anxiety disorder: findings from 28 research sites in the ENIGMA-Anxiety Working Group

Anita Harrewijn
Elise M. Cardinale
Daniel S. Pine
ResearchOpen Access01 Oct 2021
Translational Psychiatry

Volume: 11, P: 1-15
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

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