Nature Search

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

Rocio Rius
Alexander J. M. Blakes
Nicola Whiffin
ResearchOpen Access08 Apr 2026
Nature Genetics

Volume: 58, P: 761-773
Kaposi's sarcoma-associated herpesvirus infects endothelial and spindle cells

Chris Boshoff
Thomas F. Schulz
John J. O'Leary
Research01 Dec 1995
Nature Medicine

Volume: 1, P: 1274-1278
Inhibitory Phasing of Neuronal Discharge

P. ANDERSEN
JOHN ECCLES
Research17 Nov 1962
Nature

Volume: 196, P: 645-647
Editorial Expression of Concern: Transformation of primary human endothelial cells by Kaposi’s sarcoma-associated herpesvirus

Ornella Flore
Shahin Rafii
Ethel Cesarman
Amendments and Corrections18 Jun 2025
Nature

Volume: 643, P: E13
Preference for symmetric males by female zebra finches

John P. Swaddle
Innes C. Cuthill
Research13 Jan 1994
Nature

Volume: 367, P: 165-166
Identification of the skeletal remains of a murder victim by DNA analysis

Erika Hagelberg
Ian C. Gray
Alec J. Jeffreys
Research01 Aug 1991
Nature

Volume: 352, P: 427-429
Carbon isotopic evidence for the emergence of C4 plants in the Neogene from Pakistan and Kenya

Michèle E. Morgan
John D. Kingston
Bruno D. Marino
Research13 Jan 1994
Nature

Volume: 367, P: 162-165
Human neuromaturation, juvenile extreme energy liability, and adult cognition/cooperation

John Skoyles
ResearchOpen Access02 Apr 2012
Nature Precedings

P: 1
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
Sustained and significant negative water pressure in xylem

William T. Pockman
John S. Sperry
James W. O'Leary
Research14 Dec 1995
Nature

Volume: 378, P: 715-716
Growth limits on phytoplankton

François M. M. Morel
John R. Reinfelder
Research05 Jan 1995
Nature

Volume: 373, P: 28
Diœcism in Ranunculus acris

JOHN PARKIN
Research13 Apr 1929
Nature

Volume: 123, P: 568
Type C virus in lymphosarcoma in northern pike (Esox lucius)

TAKIS S. PAPAS
JOHN E. DAHLBERG
RONALD A. SONSTEGARD
Research10 Jun 1976
Nature

Volume: 261, P: 506-508
Respiratory, postural and spatio-kinetic motor stabilization, internal models, top-down timed motor coordination and expanded cerebello-cerebral circuitry: a review

John Skoyles
ResearchOpen Access21 Jul 2008
Nature Precedings

P: 1
Turning of nerve growth cones induced by neurotransmitters

James Q. Zheng
Mark Felder
Mu-ming Poo
Research10 Mar 1994
Nature

Volume: 368, P: 140-144
Neurones express high levels of a structurally modified, activated form of pp60^c-src

Joan S. Brugge
Patricia C. Cotton
Robert W. Keane
Research01 Aug 1985
Nature

Volume: 316, P: 554-557
Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transport

Stephen C. Hyde
Paul Emsley
Christopher F. Higgins
Research26 Jul 1990
Nature

Volume: 346, P: 362-365
Development of Asian monsoon revealed by marked ecological shift during the latest Miocene in northern Pakistan

Jay Quade
Thure E. Cerling
John R. Bowman
Research09 Nov 1989
Nature

Volume: 342, P: 163-166
Adeno-associated virus 2 infection in children with non-A–E hepatitis

A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

Antonia Ho
Richard Orton
Emma C. Thomson
Research30 Mar 2023
Nature

Volume: 617, P: 555-563
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
Dynamic organization of motor control within the olivocerebellar system

John P. Welsh
Eric J. Lang
Rodolfo Llinás
Research30 Mar 1995
Nature

Volume: 374, P: 453-457
Clinical development of cancer vaccines

This Review highlights insights from recent clinical trials and discusses critical factors for optimizing cancer vaccines, with a focus on proxies for vaccine efficacy, neoantigen selection, modular platforms and early intervention.

John B. Haanen
Ton N. M. Schumacher
Catherine J. Wu
Reviews11 Mar 2026
Nature Medicine

Volume: 32, P: 828-840
Molecular evidence for a terrestrial component of organic matter dissolved in ocean water

Kathleen J. Meyers-Schulte
John I. Hedges
Research01 May 1986
Nature

Volume: 321, P: 61-63
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Yuyang Chen
Ruebena Dawes
Nicola Whiffin
ResearchOpen Access11 Jul 2024
Nature

Volume: 632, P: 832-840
Molecular botany: Wonders of chloroplast DNA

John Gray
News & Views07 Aug 1986
Nature

Volume: 322, P: 501-502
Neuronal self-reliance

John V. Heymach Jr
Barbara A. Barres
News & Views30 Mar 1995
Nature

Volume: 374, P: 405-406
Catalysis: Designing porous solids

John M. Thomas
News & Views07 Aug 1986
Nature

Volume: 322, P: 500-501
An online multidomain lifestyle intervention to prevent cognitive decline in at-risk older adults: a randomized controlled trial

An online tailored coaching intervention, delivered over 3 years, improved global cognition, dementia risk, physical activity, nutrition and depression in older dementia-free community-dwelling individuals.

Henry Brodaty
Tiffany Chau
Michael Valenzuela
Research28 Jan 2025
Nature Medicine

Volume: 31, P: 565-573
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
Platinum apples of the asteroids

John S. Lewis
News & Views08 Dec 1994
Nature

Volume: 372, P: 499-500
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

Edith Hofer
Gennady V. Roshchupkin
Sudha Seshadri
ResearchOpen Access22 Sept 2020
Nature Communications

Volume: 11, P: 1-16
Minding the gap

John D. Joannopoulos
News & Views25 May 1995
Nature

Volume: 375, P: 278
Negative regulation of TLR4 via targeting of the proinflammatory tumor suppressor PDCD4 by the microRNA miR-21

Toll-like receptor (TLR) signaling activates the transcription factor NF-κB and production of proinflammatory cytokines. O'Neill and colleagues show that TLR signaling induces the microRNA miR-21 to dampen PDCD4 expression, which leads to less NF-κB activity and more IL-10 production.

Frederick J Sheedy
Eva Palsson-McDermott
Luke A J O'Neill
Research29 Nov 2009
Nature Immunology

Volume: 11, P: 141-147
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Carotid intima-media thickness (cIMT) and plaque are associated with subclinical atherosclerosis and coronary heart disease (CHD). Here, the authors identify and prioritize genetic loci for cIMT and plaque by GWAS and colocalization approaches and further demonstrate genetic correlation with CHD and stroke.

Nora Franceschini
Claudia Giambartolomei
Christopher J. O’Donnell
ResearchOpen Access03 Dec 2018
Nature Communications

Volume: 9, P: 1-14
Exploiting human immune repertoire transgenic mice for protective monoclonal antibodies against antimicrobial resistant Acinetobacter baumannii

In this work, the authors describe immunisation of human antibody immune repertoire transgenic mice as a surrogate to define protective human antibody reactivity to clinically diverse, antibiotic resistant Acinetobacter baumannii.

Stephen Baker
Aishwarya Krishna
Stephen T. Reece
ResearchOpen Access12 Sept 2024
Nature Communications

Volume: 15, P: 1-14
Genome-wide association study identifies novel variants in olfactory, vitamin A, vitamin B, and cadherin pathways associated with learning and memory

Lloyd N. Hopkins
Nesli Avgan
Lyn R. Griffiths
ResearchOpen Access18 Dec 2025
Scientific Reports

Volume: 16, P: 1-15
Identification of covalent inhibitors of Staphylococcus aureus serine hydrolases important for virulence and biofilm formation

Covalent inhibitors that selectively target bacterial enzymes are potential antibiotic drug candidates. Here, the authors apply high-throughput screening to identify selective covalent inhibitors that target serine hydrolases in Staphylococcus aureus

Tulsi Upadhyay
Emily C. Woods
Matthew Bogyo
ResearchOpen Access30 May 2025
Nature Communications

Volume: 16, P: 1-19
Endosomal NOX2 oxidase exacerbates virus pathogenicity and is a target for antiviral therapy

Production of reactive oxygen species is an ancient antimicrobial mechanism, but its role in antiviral defense in mammals is unclear. Here, To et al. show that virus infection activates endosomal NOX2 oxidase and restricts TLR7 signaling, and that an endosomal NOX2 inhibitor decreases viral pathogenicity.

Eunice E. To
Ross Vlahos
Stavros Selemidis
ResearchOpen Access12 Jul 2017
Nature Communications

Volume: 8, P: 1-17
DNA sequence and analysis of human chromosome 8

Chad Nusbaum
Tarjei S. Mikkelsen
Eric S. Lander
Research19 Jan 2006
Nature

Volume: 439, P: 331-335
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

John D. Rioux
Mark J. Daly
Thomas J. Hudson
Research01 Oct 2001
Nature Genetics

Volume: 29, P: 223-228
Circulating tumour cells are a prognostic indicator in advanced high-grade serous ovarian cancer and are associated with platelets and immune cells following dissemination

Mark P. Ward
Faye Lewis
Sharon A. O’Toole
ResearchOpen Access10 Oct 2025
British Journal of Cancer

Volume: 134, P: 22-32
DNMT1 reads heterochromatic H4K20me3 to reinforce LINE-1 DNA methylation

How histone modifications crosstalk with DNA methylation to regulate epigenomic patterning and genome stability in mammals remains elusive. Here, the authors show that DNA methyltransferase DNMT1 is a reader for histone H4K20 trimethylation via its BAH1 domain, which leads to optimal maintenance of DNA methylation at repetitive LINE-1 elements.

Wendan Ren
Huitao Fan
Jikui Song
ResearchOpen Access03 May 2021
Nature Communications

Volume: 12, P: 1-16
Transformation of primary human endothelial cells by Kaposi's sarcoma-associated herpesvirus

Ornella Flore
Shahin Rafii
Ethel Cesarman
Research06 Aug 1998
Nature

Volume: 394, P: 588-592
In vitro studies of post mortem neural tissue in subacute selerosing panecephalitis (SSPE)

John F Griffith
Samuel L Katz
Research01 Aug 1971
Pediatric Research

Volume: 5, P: 373-374
640 VIRAL INDUCED HISTIOCYTIC MEDULLARY RETICULOSIS

Maura C O'Leary
Norma K C Ramsay
Mark E Nesbit
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 470
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Michael C. Zody
Manuel Garber
Chad Nusbaum
Research01 Apr 2006
Nature

Volume: 440, P: 1045-1049
Mid-Pliocene warm-period deposits in the High Arctic yield insight into camel evolution

Camels originated in North America during the Eocene period ~45 million years ago. This study reports evidence of a High Arctic camel from Ellesmere Island, which extends the range of North American camels northward by ~1,200 km to a lineage of giant camels that were well established in a forested Arctic.

Natalia Rybczynski
John C. Gosse
Mike Buckley
ResearchOpen Access05 Mar 2013
Nature Communications

Volume: 4, P: 1-9
A pharmacological approach to first aid treatment for snakebite

Snakebite toxins need to be transported through the lymphatic system before gaining access to the blood. By interfering with lymphatic system function, Megan Saul et al. found that nitric oxide donors delay the fatal effects of snake venom in rats. By giving snakebite victims more time to obtain medical care, this approach may be useful for the first-aid treatment of snakebites.

Megan E Saul
Paul A Thomas
Dirk F van Helden
Research26 Jun 2011
Nature Medicine

Volume: 17, P: 809-811
Coordinated drift of receptive fields in Hebbian/anti-Hebbian network models during noisy representation learning

A computational model predicts coordinated drift of neural receptive fields during noisy representation learning and recapitulates experimental observations in the posterior parietal cortex and hippocampal CA1.

Shanshan Qin
Shiva Farashahi
Cengiz Pehlevan
Research12 Jan 2023
Nature Neuroscience

Volume: 26, P: 339-349
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.

Alicia B. Byrne
Peer Arts
Hamish S. Scott
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 180-189

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