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
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
mTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare disease in women where TSC2 deficient mTOR signalling aberrant LAM cells and fibroblasts form nodules causing lung cysts and respiratory failure. Here the authors examine how mTOR dependent IL-6 causes senescence in alveolar type 2 cells which may result in impaired lung repair.

Roya Babaei-Jadidi
Debbie Clements
Simon R. Johnson
ResearchOpen Access09 Oct 2025
Nature Communications

Volume: 16, P: 1-16
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
Emergency back-up for lung repair

Influenza virus severely damages the epithelial tissue that lines the lung. Findings suggest that, in mice, activation of a back-up population of stem cells mediates effective repair of the injured lung. See Letters p.616 & p.621

Emma L. Rawlins
News & Views28 Jan 2015
Nature

Volume: 517, P: 556-557
A TRIM21-based bioPROTAC highlights the therapeutic benefit of HuR degradation

Overexpression of human antigen R (HuR) correlates with high grade tumours and poor patient prognosis. Here, the authors engineer a TRIM21 biological PROTAC to demonstrate the benefit of a targeted protein degradation approach to deplete HuR, resulting in tumour growth inhibition in pre-clinical cancer models by altering the HuR-regulated proteome.

Alice Fletcher
Dean Clift
James Hunt
ResearchOpen Access04 Nov 2023
Nature Communications

Volume: 14, P: 1-14
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Multi-ancestry genome-wide association analyses and systematic variant-to-gene mapping strategies implicate new genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Nick Shrine
Abril G. Izquierdo
Martin D. Tobin
ResearchOpen Access13 Mar 2023
Nature Genetics

Volume: 55, P: 410-422
Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics

An integrated analysis of over 100 single-cell and single-nucleus transcriptomics studies illustrates severe acute respiratory syndrome coronavirus 2 viral entry gene coexpression patterns across different human tissues, and shows association of age, smoking status and sex with viral entry gene expression in respiratory cell populations.

Christoph Muus
Malte D. Luecken
Xiaohui Zhang
Research02 Mar 2021
Nature Medicine

Volume: 27, P: 546-559
Mechanical cell competition kills cells via induction of lethal p53 levels

Cell competition is a quality control mechanism to eliminate unfit cells. Here the authors show that physical compaction of less fit cells surrounded by healthy neighbours leads to increased expression of tumour suppressor p53 in the compacted cells, causing cell death.

Laura Wagstaff
Maja Goschorska
Eugenia Piddini
ResearchOpen Access25 Apr 2016
Nature Communications

Volume: 7, P: 1-14
MNS1 variant associated with situs inversus and male infertility

Joseph S. Leslie
Lettie E. Rawlins
Emma L. Baple
ResearchOpen Access18 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 50-55
Tumours build their niche

It emerges that tumour cells can give rise to non-dividing cells that form part of the supporting microenvironment known as the niche. These niche cells secrete proteins that drive tumour growth and progression. See Letters p.355 & p.360

Meritxell Huch
Emma L. Rawlins
News & Views10 May 2017
Nature

Volume: 545, P: 292-293
Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Nick Shrine
Abril G. Izquierdo
Martin D. Tobin
Amendments and CorrectionsOpen Access25 Sept 2023
Nature Genetics

Volume: 55, P: 1778-1779
Chronic lung diseases are associated with gene expression programs favoring SARS-CoV-2 entry and severity

Patients with chronic lung disease (CLD) have an increased risk for severe coronavirus disease-19 and poor outcomes. Here the authors compare the transcriptomes of single cells isolated from healthy and CLD lungs to identify molecular characteristics of lung cells that may account for worse COVID-19 outcomes in these patients.

Linh T. Bui
Nichelle I. Winters
Laure Emmanuelle Zaragosi
ResearchOpen Access14 Jul 2021
Nature Communications

Volume: 12, P: 1-13
SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes

An analysis of single-cell transcriptomics datasets from different tissues shows that ACE2 and TMPRSS2 are co-expressed in respiratory, corneal and intestinal epithelial cell populations, and that respiratory expression of ACE2 is associated with genes involved in innate immunity.

Waradon Sungnak
Ni Huang
Francisco Figueiredo
Research23 Apr 2020
Nature Medicine

Volume: 26, P: 681-687
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Lettie E. Rawlins
Hannah Jones
Emma L. Baple
Research08 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 657-662
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder

Joan Sala-Gaston
Eva M. Pérez-Villegas
Jose Luis Rosa
ResearchOpen Access03 Apr 2024
Cell Death Discovery

Volume: 10, P: 1-12
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan
Juanita Neira
Pengfei Liu
Research30 Aug 2018
Genetics in Medicine

Volume: 21, P: 663-675
Distal lung epithelial progenitor cell function declines with age

Julie K. Watson
Philip Sanders
Donna K. Finch
ResearchOpen Access26 Jun 2020
Scientific Reports

Volume: 10, P: 1-12

Search

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

Mapping the human genetic architecture of COVID-19

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

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

mTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis

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

Emergency back-up for lung repair

A TRIM21-based bioPROTAC highlights the therapeutic benefit of HuR degradation

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics

Mechanical cell competition kills cells via induction of lethal p53 levels

MNS1 variant associated with situs inversus and male infertility

Tumours build their niche

Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Chronic lung diseases are associated with gene expression programs favoring SARS-CoV-2 entry and severity

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Distal lung epithelial progenitor cell function declines with age

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