Nature Search

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution

Whole-genome sequencing of matched serial tumours from patients identifies two key mutagenic factors (APOBEC3 and chemotherapy) and extrachromosomal DNA-forming structural variants that drive treatment resistance in urothelial cancer.

Duy D. Nguyen
William F. Hooper
Bishoy M. Faltas
ResearchOpen Access09 Oct 2024
Nature

Volume: 635, P: 219-228
State of the journal: 2019

Edward E. Lawson
Editorial22 Feb 2019
Journal of Perinatology

Volume: 39, P: 345-350
Detectable clonal mosaicism and its relationship to aging and cancer

Luis Pérez-Jurado, Stephen Chanock and colleagues detect clonal chromosomal abnormalities in peripheral blood or buccal samples from individuals in the general population. They show that the frequency of such events increases with age and is associated with elevated risk of developing subsequent hematological cancers.

Kevin B Jacobs
Meredith Yeager
Stephen J Chanock
Research06 May 2012
Nature Genetics

Volume: 44, P: 651-658
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

Jun Fang
Jinping Jia
Laufey T. Amundadottir
ResearchOpen Access27 Apr 2017
Nature Communications

Volume: 8, P: 1-17
A framework for sharing of clinical and genetic data for precision medicine applications

A secure framework that harmonizes storage and querying of clinical and genetic data using blockchain technology was developed to support combined genotype–phenotype queries, improving transparency into how and when health information is used.

Ahmed Elhussein
Ulugbek Baymuradov
Gamze Gürsoy
ResearchOpen Access03 Sept 2024
Nature Medicine

Volume: 30, P: 3578-3589
Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

Induced pluripotent stem cells are shown to be useful for studying phenotypes relevant to familial and sporadic Alzheimer’s disease, even though it can take decades for the disease to manifest in patients.

Mason A. Israel
Shauna H. Yuan
Lawrence S. B. Goldstein
Research25 Jan 2012
Nature

Volume: 482, P: 216-220
Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

Seymour Kaufman
Edward E Max
Ellen S Kang
Research01 Aug 1975
Pediatric Research

Volume: 9, P: 632-634
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

Christian R Marshall
Daniel P Howrigan
Jonathan Sebat
Research21 Nov 2016
Nature Genetics

Volume: 49, P: 27-35
The RecA hexamer is a structural homologue of ring helicases

The RecA protein forms a hexameric ring that is similar to the core of the F1-ATPase. Several lines of evidence suggest that this hexamer may be a structural homologue of ring helicases.

Xiong Yu
Edward H. Egelman
Correspondence01 Feb 1997
Nature Structural Biology

Volume: 4, P: 101-104
FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

In this study the authors identify a possible link between the gene FAM222A and brain atrophy. The protein it encodes is found to accumulate in plaques seen in Alzheimer’s disease, and functional analysis suggests it interacts with amyloid-beta.

Tingxiang Yan
Jingjing Liang
Xinglong Wang
ResearchOpen Access21 Jan 2020
Nature Communications

Volume: 11, P: 1-16
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

This study uses gene expression predictors for the dorsolateral prefrontal cortex and other brain regions to perform a transcriptomic imputation analysis of schizophrenia, identifying 413 genic associations across 13 brain regions and 36 significantly enriched pathways.

Laura M. Huckins
Amanda Dobbyn
Eli A. Stahl
Research25 Mar 2019
Nature Genetics

Volume: 51, P: 659-674
Complement genes contribute sex-biased vulnerability in diverse disorders

Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

Nolan Kamitaki
Aswin Sekar
Steven A. McCarroll
Research11 May 2020
Nature

Volume: 582, P: 577-581
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer

Genetic variants associated with susceptibility to pancreatic cancer have been identified using genome wide association studies (GWAS). Here, the authors combine data from over 9000 patients and perform a meta-analysis to identify five novel loci linked to pancreatic cancer.

Alison P. Klein
Brian M. Wolpin
Laufey T. Amundadottir
ResearchOpen Access08 Feb 2018
Nature Communications

Volume: 9, P: 1-11
1095 VITAMIN D DEFICIENCY RICKETS WITH ABNORMAL LIVER FUNCTION TESTS AND MYOPATHY AS THE PRESENTING MANIFESTATIONS OF CYSTIC FIBROSIS

Edward H Abraham
Jeffrey S Gerdes
Constantine S Anast
Research01 Apr 1981
Pediatric Research

Volume: 15, P: 625
SR-B1 drives endothelial cell LDL transcytosis via DOCK4 to promote atherosclerosis

The SR-B1 receptor partners with DOCK4 and RAC1 to drive the uptake and transcytosis of LDL in endothelial cells, thereby promoting atherosclerosis in mice.

Linzhang Huang
Ken L. Chambliss
Philip W. Shaul
Research24 Apr 2019
Nature

Volume: 569, P: 565-569
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

Brian J. Willett
Joe Grove
Emma C. Thomson
ResearchOpen Access07 Jul 2022
Nature Microbiology

Volume: 7, P: 1161-1179
Estimating influenza attack rates in the United States using a participatory cohort

Rumi Chunara
Edward Goldstein
John S. Brownstein
ResearchOpen Access02 Apr 2015
Scientific Reports

Volume: 5, P: 1-5
The discovery of Bombali virus adds further support for bats as hosts of ebolaviruses

Genomic characterization of a new ebolavirus, detected in free-tailed bats in Sierra Leone, whose viral glycoprotein can mediate entry into human cells.

Tracey Goldstein
Simon J. Anthony
Jonna A. K. Mazet
Research27 Aug 2018
Nature Microbiology

Volume: 3, P: 1084-1089
Examining the role of different age groups and of vaccination during the 2012 Minnesota pertussis outbreak

Colin J. Worby
Cynthia Kenyon
Edward Goldstein
ResearchOpen Access17 Aug 2015
Scientific Reports

Volume: 5, P: 1-8
Distinct mesenchymal cell states mediate prostate cancer progression

The components of the tumour microenvironment contribute to prostate cancer initiation and progression. Here the authors perform single-cell RNA sequencing and spatial transcriptomics analysis of prostate cancer stroma from mouse models at different stages of the disease and develop a gene signature to predict distant metastasis in patients.

Hubert Pakula
Mohamed Omar
Massimo Loda
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-21
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

Russell L. McLaughlin
Dick Schijven
Michael C. O’Donovan
ResearchOpen Access21 Mar 2017
Nature Communications

Volume: 8, P: 1-12
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

Barbara Franke
Jason L Stein
Patrick F Sullivan
Research01 Feb 2016
Nature Neuroscience

Volume: 19, P: 420-431
Biological insights from 108 schizophrenia-associated genetic loci

Schizophrenia is a highly heritable genetic disorder, however, identification of specific genetic risk variants has proven difficult because of its complex polygenic nature—a large multi-stage genome-wide association study identifies 128 independent associations in over 100 loci (83 of which are new); key findings include identification of genes involved in glutamergic neurotransmission and support for a link between the immune system and schizophrenia.

Stephan Ripke
Benjamin M. Neale
Michael C. O’Donovan
Research22 Jul 2014
Nature

Volume: 511, P: 421-427
Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients

Using more than 100 independent iPSC lines derived from patients with Alzheimer’s disease, the authors discovered loci associated with the neuronal production of amyloid β and confirmed their influence using RNA interference.

Takayuki Kondo
Norikazu Hara
Haruhisa Inoue
Research17 Feb 2022
Nature Aging

Volume: 2, P: 125-139
Impact of Infants Born at the Threshold of Viability on the Neonatal Mortality Rate in Colorado

Jacinto A Hernández
Daniel M Hall
Carol Garrett
Research26 Jun 2000
Journal of Perinatology

Volume: 20, P: 21-26
An Improved Method for Evaluating Testosterone Biosynthetic Defects

Fred I Chasalow
Sandra L Blethen
Frank S French
Research01 Aug 1984
Pediatric Research

Volume: 18, P: 759-763
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
Prefrontal Hypoactivity Associated with Impaired Inhibition in Stimulant-Dependent Individuals but Evidence for Hyperactivation in their Unaffected Siblings

Sharon Morein-Zamir
P Simon Jones
Karen D Ersche
ResearchOpen Access22 Apr 2013
Neuropsychopharmacology

Volume: 38, P: 1945-1953
The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models

The Microarray Quality Control consortium pitted 36 teams against each other to evaluate methods for creating genomic classifiers, computational tools for interpreting gene expression profiles. The performance of the classifiers on blinded validation data—and metadata on the analytic methods—reveal the challenges facing the field.

Leming Shi
Gregory Campbell
Russell D Wolfinger
Research30 Jul 2010
Nature Biotechnology

Volume: 28, P: 827-838
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
Acute kidney disease and renal recovery: consensus report of the Acute Disease Quality Initiative (ADQI) 16 Workgroup

Acute kidney injury (AKI) and chronic kidney disease are increasingly recognized as interconnected entities and the term acute kidney disease (AKD) has been proposed to define ongoing pathophysiologic processes following an episode of AKI. In this Consensus statement, the Acute Disease Quality Initiative 16 Workgroup propose definitions and staging criteria for AKD, and strategies for the management of affected patients. They also make recommendations for areas of future research with the aims of improving understanding of the underlying processes and improving outcomes.

Lakhmir S. Chawla
Rinaldo Bellomo
John A. Kellum
ReviewsOpen Access27 Feb 2017
Nature Reviews Nephrology

Volume: 13, P: 241-257
Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes

Heidi M. Harmon
Erik A. Jensen
Elaine Romano
Research04 Feb 2020
Journal of Perinatology

Volume: 40, P: 616-627
Effects of Antenatal Corticosteroids on Blood Pressure in Very Low Birth Weight Infants During the First 24 Hours of Life

Sergio Demarini
Shaul Dollberg
Edward F Donovan
Research13 Dec 1999
Journal of Perinatology

Volume: 19, P: 419-425
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
Author Correction: FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

Tingxiang Yan
Jingjing Liang
Xinglong Wang
Amendments and CorrectionsOpen Access11 Jul 2022
Nature Communications

Volume: 13, P: 1-2
Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Liang-Yu Huang
Chen-Chen Tan
Dariella Fernandez
ResearchOpen Access08 Jul 2025
Translational Psychiatry

Volume: 15, P: 1-11
Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England

Harald S. Vöhringer
Theo Sanderson
Moritz Gerstung
Amendments and CorrectionsOpen Access07 Jun 2022
Nature

Volume: 606, P: E18
Re-evaluating diabetic papillopathy using optical coherence tomography and inner retinal sublayer analysis

Josef Huemer
Hagar Khalid
Pearse A. Keane
ResearchOpen Access09 Jul 2021
Eye

Volume: 36, P: 1476-1485
High systemic and tumor-associated IL-8 correlates with reduced clinical benefit of PD-L1 blockade

In a retrospective analysis of data from three clinical trials, increased baseline peripheral and tumor IL-8 levels were associated with worse clinical outcomes in patients with metastatic urothelial carcinoma and metastatic renal cell carcinoma treated with anti-PD-L1 therapy.

Kobe C. Yuen
Li-Fen Liu
Sanjeev Mariathasan
Research11 May 2020
Nature Medicine

Volume: 26, P: 693-698
Final analysis of a phase II study of modified FOLFIRINOX in locally advanced and metastatic pancreatic cancer

Stacey M Stein
Edward S James
Jill Lacy
ResearchOpen Access29 Mar 2016
British Journal of Cancer

Volume: 114, P: 737-743
Estimation of reference curves for brain atrophy and analysis of robustness to machine effects

Elodie Piot
Félix Renard
Maria Luisa Mandelli
ResearchOpen Access03 Oct 2025
Scientific Reports

Volume: 15, P: 1-21
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Research14 Sept 2017
Genetics in Medicine

Volume: 20, P: 464-469
C. elegans cell cycles: invariance and stem cell divisions

Edward T. Kipreos
Reviews01 Oct 2005
Nature Reviews Molecular Cell Biology

Volume: 6, P: 766-776
Soluble Forms of the Human T Cell Receptor CD4 are Efficiently Expressed by Streptomyces lividans

James A. Fornwald
Mary Jo Donovan
Mary E. Brawner
Research01 Sept 1993
Bio/Technology

Volume: 11, P: 1031-1036
De novo mutations in epileptic encephalopathies

Exome sequencing has found an excess of de novo mutations in the ∼4,000 most intolerant genes in patients with two classical epileptic encephalopathies (infantile spasms and Lennox–Gastaut syndrome); among them are multiple de novo mutations in GABRB3 and ALG13.

Andrew S. Allen
Samuel F. Berkovic
Melodie R. Winawer
Research11 Aug 2013
Nature

Volume: 501, P: 217-221
Risk-Taking in Disorders of Natural and Drug Rewards: Neural Correlates and Effects of Probability, Valence, and Magnitude

Valerie Voon
Laurel S Morris
Jon E Grant
ResearchOpen Access01 Oct 2014
Neuropsychopharmacology

Volume: 40, P: 804-812
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Is there more to BARD1 than BRCA1?

BRCA1 interacts with many proteins, but one particular protein, BARD1, seems to be an important regulator of BRCA1 function. This review examines whether BARD1 has BRCA1-independent functions that contribute to the pathogenesis of cancer.

Irmgard Irminger-Finger
Charles Edward Jefford
Reviews01 May 2006
Nature Reviews Cancer

Volume: 6, P: 382-391
Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning

Sema Nickbakhsh
Joseph Hughes
Alison Smith-Palmer
ResearchOpen Access19 Jul 2022
Scientific Reports

Volume: 12, P: 1-17
Staging tau pathology with tau PET in Alzheimer’s disease: a longitudinal study

Shi-Dong Chen
Jia-Ying Lu
Michelle Zmuda
ResearchOpen Access18 Sept 2021
Translational Psychiatry

Volume: 11, P: 1-12

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