Nature Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Transcriptional repression facilitates RNA:DNA hybrid accumulation at DNA double-strand breaks

Saur, Lesage et al. report that RNA:DNA hybrids arise at double-strand breaks in transcribed genes, independently of de novo recruitment of RNA polymerase II/III, as a result of DSB-induced transcriptional repression.

Florian Saur
Emma Lesage
Gaëlle Legube
ResearchOpen Access30 May 2025
Nature Cell Biology

Volume: 27, P: 992-1005
RNA-Puzzles Round V: blind predictions of 23 RNA structures

The results of the Fifth RNA-Puzzles contest highlights advances in RNA three-dimensional structure prediction and uncovers new insights into RNA folding and structure.

Fan Bu
Yagoub Adam
Zhichao Miao
ResearchOpen Access02 Dec 2024
Nature Methods

Volume: 22, P: 399-411
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
Angiogenic and immune predictors of neoadjuvant axitinib response in renal cell carcinoma with venous tumour thrombus

Venous tumour thrombus can occur within renal cell carcinoma, and can require complex additional surgery and treatment. Here, the authors analyse multiparametric data from patients treated with axitinib and develop a machine learning model to predict neoadjuvant treatment response.

Rebecca Wray
Hania Paverd
Robert J. Jones
ResearchOpen Access28 Apr 2025
Nature Communications

Volume: 16, P: 1-14
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
Label-free cell cycle analysis for high-throughput imaging flow cytometry

Imaging flow cytometry enables high-throughput acquisition of fluorescence, brightfield and darkfield images of biological cells. Here, Blasi et al.demonstrate that applying machine learning algorithms on brightfield and darkfield images can detect cellular phenotypes without the need for fluorescent stains, enabling label-free assays.

Thomas Blasi
Holger Hennig
Paul Rees
ResearchOpen Access07 Jan 2016
Nature Communications

Volume: 7, P: 1-9
An architectural role of specific RNA–RNA interactions in oskar granules

Bose, Rankovic et al. show that a specific RNA–RNA kissing-loop interaction plays a crucial role in driving biomolecular condensation of ribonucleoprotein granules in the Drosophila germline.

Mainak Bose
Branislava Rankovic
Anne Ephrussi
ResearchOpen Access01 Oct 2024
Nature Cell Biology

Volume: 26, P: 1934-1942
Brain and body energy metabolism and potential for treatment of psychiatric disorders

This Perspective highlights the important role of energy metabolism in psychiatric disorders and sets the groundwork for future studies in the emerging field of metabolic psychiatry.

Ana C. Andreazza
L. Felipe Barros
Corey Weistuch
Reviews25 Jun 2025
Nature Mental Health

P: 1-9
Skin health and biological aging

This Review examines how hallmarks of aging manifest in the skin and interact with systemic aging, positioning the skin as both an indicator and driver of age-related physiological decline.

David Furman
Johan Auwerx
Knut Woltjen
Reviews17 Jun 2025
Nature Aging

P: 1-12
Leveraging genome-wide association analyses with chip and imputed data emerges potential pleiotropic region for four duck growth traits

Eirini Tarsani
Oswald Matika
Kellie A. Watson
ResearchOpen Access02 Jul 2025
Scientific Reports

Volume: 15, P: 1-9
Carbon Compounds in Apollo 12 Lunar Samples

BARTHOLOMEW NAGY
JUDITH E. MODZELESKI
HAROLD C. UREY
Research09 Jul 1971
Nature

Volume: 232, P: 94-98
Early Pre-Cambrian Onverwacht Microstructures : Possibly the Oldest Fossils on Earth?

BARTHOLOMEW NAGY
LOIS ANNE NAGY
Research20 Sept 1969
Nature

Volume: 223, P: 1226-1229
Immunobiology of membrane-bound collagen on mouse fibroblasts

W. PAGE FAULK
L. B. CONOCHIE
M. PAPAMICHAIL
Research10 Jul 1975
Nature

Volume: 256, P: 123-125
Reprogramming the assembly of unmodified DNA with a small molecule

Cyanuric acid, a small molecule with three thymine-like faces, reprogrammes the assembly of unmodified poly(adenine) into long fibres with a unique internal structure. The association of adenine and cyanuric acid units into a hexameric rosette motif brings together poly(adenine) triplexes with subsequent cooperative polymerization.

Nicole Avakyan
Andrea A. Greschner
Hanadi F. Sleiman
Research22 Feb 2016
Nature Chemistry

Volume: 8, P: 368-376
2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein

Here the authors captured the structure of human telomerase H/ACA ribonucleoprotein (RNP) by cryo-EM. The structure rationalizes telomere-disorder disease mutations and reveals insights into the mechanism of pseudouridylation by eukaryotic H/ACA RNPs.

George E. Ghanim
Zala Sekne
Thi Hoang Duong Nguyen
ResearchOpen Access25 Jan 2024
Nature Communications

Volume: 15, P: 1-16
Microglial mechanisms drive amyloid-β clearance in immunized patients with Alzheimer’s disease

Spatial transcriptomics reveals distinct microglial mechanisms driving amyloid-β clearance in both passively and actively immunized patients with Alzheimer’s disease.

Lynn van Olst
Brooke Simonton
David Gate
ResearchOpen Access06 Mar 2025
Nature Medicine

Volume: 31, P: 1604-1616
Short- and long-range interactions in the HIV-1 5′ UTR regulate genome dimerization and packaging

Comprehensive functional and structural probing of the HIV-1 5′ untranslated region reveals novel interactions that regulate RNA dimerization, Pr55Gag binding and genome packaging into virions.

Liqing Ye
Anne-Sophie Gribling-Burrer
Redmond P. Smyth
ResearchOpen Access28 Mar 2022
Nature Structural & Molecular Biology

Volume: 29, P: 306-319
Tau-targeting antisense oligonucleotide MAPT_Rx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Evaluation of a tau-targeting antisense oligonucleotide in a phase 1 trial of patients with mild AD found it was well tolerated and resulted in a sustained reduction of tau protein levels.

Catherine J. Mummery
Anne Börjesson-Hanson
Roger M. Lane
ResearchOpen Access24 Apr 2023
Nature Medicine

Volume: 29, P: 1437-1447
A Cytoplasmic Membrane-like Fraction from Cells of the Ehrlich Mouse Ascites Carcinoma

P. C. RAJAM
ANNE-LOUISE JACKSON
Research14 Jun 1958
Nature

Volume: 181, P: 1670-1671
Limits on bilingualism

Anne Cutler
Jacques Mehler
Juan Segui
Research20 Jul 1989
Nature

Volume: 340, P: 229-230
Crystal structure of a self-splicing group I intron with both exons

Peter L. Adams
Mary R. Stahley
Scott A. Strobel
Research02 Jun 2004
Nature

Volume: 430, P: 45-50
Pain responses, anxiety and aggression in mice deficient in pre-proenkephalin

Monika König
Anne M. Zimmer
Andreas Zimmer
Research10 Oct 1996
Nature

Volume: 383, P: 535-538
Metal binding and base ionization in the U6 RNA intramolecular stem-loop structure

Anna Huppler
Laura J. Nikstad
Samuel E. Butcher
Research06 May 2002
Nature Structural Biology

Volume: 9, P: 431-435
Comparative evaluation of the Allergan Humphrey 570 and Canon RK-1 autorefractors: II objective autorefraction in pseudophakes

Jose R Villada
Palaniswamy Sunder Raj
Allan Watson
Research01 May 1992
Eye

Volume: 6, P: 287-289
Risk-stratified treatment for drug-susceptible pulmonary tuberculosis

Authors perform an analysis of the patient data and risk factors to evaluate unfavorable outcomes and adverse events in adults with pulmonary tuberculosis treated with a 4-month rifapentine based regimen. Low rifapentine exposure was the most clinically significant risk factor for treatment failure and tuberculosis relapse.

Vincent K. Chang
Marjorie Z. Imperial
Elizabeth Guy
ResearchOpen Access30 Oct 2024
Nature Communications

Volume: 15, P: 1-12
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
Problems of germline therapy

Anne McLaren
Jonathan Ewbank
Correspondence16 Apr 1998
Nature

Volume: 392, P: 645
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51

Sister chromatid exchanges (SCEs) are considered to be products of homologous recombination repair. The authors show that SCEs can arise independently of homologous recombination due to processing of replication intermediates during mitosis.

Anne Margriet Heijink
Colin Stok
Marcel A. T. M. van Vugt
ResearchOpen Access07 Nov 2022
Nature Communications

Volume: 13, P: 1-16
Regional records improve data quality in determining plant extinction rates

Wesley M. Knapp
Anne Frances
Kathryn Kennedy
Research09 Mar 2020
Nature Ecology & Evolution

Volume: 4, P: 512-514
Author Correction: Microglial mechanisms drive amyloid-β clearance in immunized patients with Alzheimer’s disease

Lynn van Olst
Brooke Simonton
David Gate
Amendments and CorrectionsOpen Access28 Mar 2025
Nature Medicine

Volume: 31, P: 1712
Investigating the impact of poverty on mental illness in the UK Biobank using Mendelian randomization

Although poverty and mental illness are strongly correlated, it is unclear whether they are causally linked. Using UK Biobank and Psychiatric Genomic Consortium data, Marchi et al. provide evidence of a causal relationship between poverty and some mental illnesses.

Mattia Marchi
Anne Alkema
Marco P. Boks
ResearchOpen Access10 Jul 2024
Nature Human Behaviour

Volume: 8, P: 1771-1783
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
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Concatenating Original Duplex for Error Correction (CODEC) is a method that concatenates both strands of each DNA duplex to enable highly sensitive mutation detection in a range of analytes with fewer reads and lower error rates than current methods.

Jin H. Bae
Ruolin Liu
Viktor A. Adalsteinsson
ResearchOpen Access27 Apr 2023
Nature Genetics

Volume: 55, P: 871-879
Author Correction: A policy-driven framework for conserving the best of Earth’s remaining moist tropical forests

Andrew J. Hansen
Patrick Burns
Dolors Armenteras
Amendments and Corrections13 Sept 2024
Nature Ecology & Evolution

Volume: 8, P: 2336
Placental Barrier to Maternal Cells

W. D. BILLINGTON
D. R. S. KIRBY
ANNE MCLAREN
Research15 Nov 1969
Nature

Volume: 224, P: 704-706
A pseudoknot-like structure required for efficient self-cleavage of hepatitis delta virus RNA

Anne T. Perrotta
Michael D. Been
Research04 Apr 1991
Nature

Volume: 350, P: 434-436
Evidence that a locus for familial psoriasis maps to chromosome 4q

Deborah Matthews
Lionel Fry
Robert Williamson
Research01 Oct 1996
Nature Genetics

Volume: 14, P: 231-233
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
ResearchOpen Access07 Sept 2016
Nature Communications

Volume: 7, P: 1-22
Chemical unclonable functions based on operable random DNA pools

Physical unclonable functions provide algorithm-independent cryptography based on non-distributable unique tokens. Here, the authors introduce unclonable functions based on random DNA pools, enabling secure decentralized authentication.

Anne M. Luescher
Andreas L. Gimpel
Robert N. Grass
ResearchOpen Access05 Apr 2024
Nature Communications

Volume: 15, P: 1-11
Transcription-mediated organization of the replication initiation program across large genes sets common fragile sites genome-wide

Common Fragile Sites (CFSs) are chromosome regions prone to breakage upon replication stress known to drive chromosome rearrangements during oncogenesis. Here the authors use genome-wide and single cell techniques to assess how replication timing and transcriptional activity correlate with genome stability.

Olivier Brison
Sami El-Hilali
Chun-Long Chen
ResearchOpen Access13 Dec 2019
Nature Communications

Volume: 10, P: 1-12
Comparative evaluation of the Allergan Humphrey 570 and Canon RK-l autorefractors: I. Objective autorefraction in normal subjects

Palaniswamy Sunder Raj
Jose R Villada
Allan Watson
Research01 May 1992
Eye

Volume: 6, P: 284-286
New ozone hole phenomenon

Anne M. Thompson
News & Views25 Jul 1991
Nature

Volume: 352, P: 282-283
Methane on the greenhouse agenda

Methane is often ignored in the greenhouse debate. Reductions of emissions of this gas would be relatively easy to achieve and could have a significant effect on global warming.

Kathleen B. Hogan
John S. Hoffman
Anne M. Thompson
Comments & Opinion21 Nov 1991
Nature

Volume: 354, P: 181-182
Microbiology: Ditch the term pathogen

Disease is as much about the host as it is the infectious agent — the focus on microbes is hindering research into treatments, say Arturo Casadevall and Liise-anne Pirofski.

Arturo Casadevall
Liise-anne Pirofski
Comments & Opinion10 Dec 2014
Nature

Volume: 516, P: 165-166
Acquired resistance to combined BET and CDK4/6 inhibition in triple-negative breast cancer

Effective combination therapies to improve the efficacy of BET inhibitors are currently under investigation. Here, the authors examine palbociclib and paclitaxel as two promising candidates for combination therapies with BET inhibition in breast cancer and investigate the dynamics of resistance to these combinations through DNA barcoding and mathematical modelling.

Jennifer Y. Ge
Shaokun Shu
Kornelia Polyak
ResearchOpen Access11 May 2020
Nature Communications

Volume: 11, P: 1-17
Long-term cellular immunity of vaccines for Zaire Ebola Virus Diseases

In this immunological ancillary study of the PREVAC trial, the authors show that approved Ebola virus vaccines induce memory T-cell responses that persist during the five year follow-up after initial vaccination.

Aurélie Wiedemann
Edouard Lhomme
Huanying Zhou
ResearchOpen Access03 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Nano-DMS-MaP allows isoform-specific RNA structure determination

Nano-DMS-MaP combines the power of DMS mutational profiling and long-read nanopore sequencing to resolve structural differences among RNA isoforms, revealing the structural landscape of HIV-1 transcripts in cells.

Patrick Bohn
Anne-Sophie Gribling-Burrer
Redmond P. Smyth
ResearchOpen Access27 Apr 2023
Nature Methods

Volume: 20, P: 849-859

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