Nature Search

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Matthew Hurles and colleagues report exome sequencing of 1,891 individuals with syndromic or nonsyndromic congenital heart defects (CHD). They found that nonsyndromic CHD patients were enriched for protein-truncating variants in CHD-associated genes inherited from unaffected parents and identified three new syndromic CHD disorders caused by de novo mutations.

Alejandro Sifrim
Marc-Phillip Hitz
Matthew E Hurles
Research01 Aug 2016
Nature Genetics

Volume: 48, P: 1060-1065
GABA_A receptor α4 subunit suppression prevents withdrawal properties of an endogenous steroid

Sheryl S. Smith
Qi Hua Gong
Xinshe Li
Research30 Apr 1998
Nature

Volume: 392, P: 926-929
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Praveen Surendran
Elena V. Feofanova
Joanna M. M. Howson
Amendments and Corrections16 Mar 2021
Nature Genetics

Volume: 53, P: 762
Is contact-line mobility a material parameter?

Jonathan M. Ludwicki
Vanessa R. Kern
Paul H. Steen
ResearchOpen Access21 Feb 2022
npj Microgravity

Volume: 8, P: 1-8
Reference-based phasing using the Haplotype Reference Consortium panel

Po-Ru Loh, Alkes Price and colleagues present Eagle2, a reference-based phasing algorithm that allows for highly accurate and efficient phasing of genotypes across a broad range of cohort sizes. They demonstrate an approximately 10% improvement in accuracy and 20% improvement in speed compared to a competing method, SHAPEIT2.

Po-Ru Loh
Petr Danecek
Alkes L Price
Research03 Oct 2016
Nature Genetics

Volume: 48, P: 1443-1448
Climate-smart agriculture for food security

Climate-smart agriculture (CSA) is an approach to the development of agricultural systems intended to help support food security under climate change. This Perspective outlines a set of CSA actions needed from public, private and civil society stakeholders: building evidence; increasing local institutional effectiveness; fostering coherence between climate and agricultural policies; and linking climate and agricultural financing.

Leslie Lipper
Philip Thornton
Emmanuel F. Torquebiau
Reviews26 Nov 2014
Nature Climate Change

Volume: 4, P: 1068-1072
Evaluating drug targets through human loss-of-function genetic variation

Analysis of predicted loss-of-function variants from 125,748 human exomes and 15,708 whole genomes in the Genome Aggregation Database (gnomAD) provides a roadmap for human ‘knockout’ studies and a guide for future research into disease biology and drug-target selection.

Eric Vallabh Minikel
Konrad J. Karczewski
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 459-464
Author Correction: A detailed map of Higgs boson interactions by the ATLAS experiment ten years after the discovery

G. Aad
B. Abbott
L. Zwalinski
Amendments and CorrectionsOpen Access18 Oct 2023
Nature

Volume: 623, P: E5
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

Nick Craddock
Matthew E. Hurles
Peter Donnelly
Research01 Apr 2010
Nature

Volume: 464, P: 713-720
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Josée Dupuis
Claudia Langenberg
Inês Barroso
Amendments and Corrections01 May 2010
Nature Genetics

Volume: 42, P: 464
Predictive accuracy of population viability analysis in conservation biology

Barry W. Brook
Julian J. O'Grady
Richard Frankham
Research23 Mar 2000
Nature

Volume: 404, P: 385-387
Microduplications of 16p11.2 are associated with schizophrenia

Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders.

Shane E McCarthy
Vladimir Makarov
Jonathan Sebat
Research25 Oct 2009
Nature Genetics

Volume: 41, P: 1223-1227
Detection of Apparent Cell-free M. tuberculosis DNA from Plasma

E. S. Click
W. Murithi
K. P. Cain
ResearchOpen Access12 Jan 2018
Scientific Reports

Volume: 8, P: 1-6
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Richard Watanabe and colleagues of the MAGIC consortium report meta-analyses of genome-wide association studies to glucose levels two hours after an oral glucose challenge. They identify variants in GIPR associated with glucose and insulin responses.

Richa Saxena
Marie-France Hivert
Richard M Watanabe
Research17 Jan 2010
Nature Genetics

Volume: 42, P: 142-148
Total artificial hearts: past, present, and future

The quest for a practical total artificial heart (TAH) stems from the large number of patients with advanced heart failure, and the limited number of donor hearts available for transplantation. In this Perspectives article, Cohn et al. give their expert insight into the development of TAHs over the past 50 years. They describe the evolution from positive-displacement, pulsatile pumps to continuous-flow devices, and give their opinion on the most promising avenues for future innovation.

William E. Cohn
Daniel L. Timms
O. H. Frazier
Reviews02 Jun 2015
Nature Reviews Cardiology

Volume: 12, P: 609-617
Nonlinear excitation of energetic particle driven geodesic acoustic mode by resonance overlap with Alfvén instability in ASDEX Upgrade

Hao Wang
Philipp Lauber
S. Zoletnik
ResearchOpen Access07 Jan 2025
Scientific Reports

Volume: 15, P: 1-11
Acquisition of a multifunctional IgA⁺ plasma cell phenotype in the gut

IgA secreting plasma cells in the lamina propria are shown to be an important source of iNOS and TNF required to maintain the homeostatic balance between intestinal microbes and the immune system.

Jörg H. Fritz
Olga Lucia Rojas
Jennifer L. Gommerman
Research11 Dec 2011
Nature

Volume: 481, P: 199-203
Interactions of human prostatic epithelial cells with bone marrow endothelium: binding and invasion

L J Scott
N W Clarke
S H Lang
ResearchOpen Access15 May 2001
British Journal of Cancer

Volume: 84, P: 1417-1423
Dlk/ZIP kinase-induced apoptosis in human medulloblastoma cells: requirement of the mitochondrial apoptosis pathway

D Kögel
C Reimertz
J H M Prehn
ResearchOpen Access27 Nov 2001
British Journal of Cancer

Volume: 85, P: 1801-1808
Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior

Kari Stefansson and colleagues report genome-wide meta-analyses for association to smoking behaviors within the population cohorts of the ENGAGE consortium. They report three loci associated to cigarettes smoked per day.

Thorgeir E Thorgeirsson
Daniel F Gudbjartsson
Kari Stefansson
Research25 Apr 2010
Nature Genetics

Volume: 42, P: 448-453
Hypermethylation of CpG islands in the mouse asparagine synthetase gene: relationship to asparaginase sensitivity in lymphoma cells. Partial methylation in normal cells

H Peng
N Shen
J D Broome
ResearchOpen Access11 Sept 2001
British Journal of Cancer

Volume: 85, P: 930-935
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Katherine A. Kentistou
Lena R. Kaisinger
Ken K. Ong
Amendments and CorrectionsOpen Access09 Jul 2024
Nature Genetics

Volume: 56, P: 1763-1764
Modelling schizophrenia using human induced pluripotent stem cells

Kristen J. Brennand
Anthony Simone
Fred H. Gage
Research13 Apr 2011
Nature

Volume: 473, P: 221-225
Stimulation of urokinase-type plasminogen activator receptor expression by PMA requires JNK1-dependent and -independent signaling modules

R Gum
J Juarez
D Boyd
Research17 Jul 1998
Oncogene

Volume: 17, P: 213-225
Clearance rates and systemic effects of intravenously administered interleukin 2 (IL-2) containing preparations in human subjects

C Bindon
M Czerniecki
P Hersey
Research01 Jan 1983
British Journal of Cancer

Volume: 47, P: 123-133
Identification of common variants associated with human hippocampal and intracranial volumes

Paul Thompson and colleagues report a genome-wide association study for hippocampal, intracranial and total brain volume. They identify a locus at 12q24 associated with hippocampal volume and a locus at 12q14 associated with intracranial volume.

Jason L Stein
Sarah E Medland
Paul M Thompson
Research15 Apr 2012
Nature Genetics

Volume: 44, P: 552-561
1156 SHORT-COURSE AEROSOLIZED RIBAVIRIN (Rib) FOR RESPI RATORY SYNCYTIAL VIRUS (RSV) INFECTION

William J Rodriguez
Hyun W Kim
Robt H Parrott
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 303
The effect of LRRK2 loss-of-function variants in humans

Analysis of large genomic datasets, including gnomAD, reveals that partial LRRK2 loss of function is not strongly associated with diseases, serving as an example of how human genetics can be leveraged for target validation in drug discovery.

Nicola Whiffin
Irina M. Armean
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature Medicine

Volume: 26, P: 869-877
The unexpected surface of asteroid (101955) Bennu

Observations of asteroid (101955) Bennu with NASA’s OSIRIS-REx spacecraft reveal an unexpected surficial diversity that poses a challenge to the success of the sample-return mission.

D. S. Lauretta
D. N. DellaGiustina
B. Marty
Research19 Mar 2019
Nature

Volume: 568, P: 55-60
Redefine statistical significance

We propose to change the default P-value threshold for statistical significance from 0.05 to 0.005 for claims of new discoveries.

Daniel J. Benjamin
James O. Berger
Valen E. Johnson
Comments & Opinion01 Sept 2017
Nature Human Behaviour

Volume: 2, P: 6-10
FTO genotype is associated with phenotypic variability of body mass index

A meta-analysis of genome-wide association studies of phenotypic variation for height and body mass index in human populations using 170,000 samples shows that one single nucleotide polymorphism at the FTO locus, which is associated with obesity, is also associated with phenotypic variation.

Jian Yang
Ruth J. F. Loos
Peter M. Visscher
Research16 Sept 2012
Nature

Volume: 490, P: 267-272
A genome-wide association meta-analysis identifies new childhood obesity loci

Struan Grant and colleagues perform a meta-analysis of genome-wide association studies to identify loci influencing childhood obesity. They discover variants near OLFM4 and HOXB5 associated with this trait and show that these loci are also associated with increased body mass index in adults.

Jonathan P Bradfield
H Rob Taal
Struan F A Grant
Research08 Apr 2012
Nature Genetics

Volume: 44, P: 526-531
Functional Magnetic Resonance Imaging Brain Mapping in Psychiatry: Methodological Issues Illustrated in a Study of Working Memory in Schizophrenia

Joseph H Callicott
Nicolas F Ramsey
Daniel R Weinberger
Research01 Mar 1998
Neuropsychopharmacology

Volume: 18, P: 186-196
Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder

A neuronal model of bipolar disorder based on induced pluripotent stem cell (iPSC) technology finds hyperactive action-potential firing and differential responsiveness to lithium in iPSC-derived neurons from patients with bipolar disorder.

Jerome Mertens
Qiu-Wen Wang
Jun Yao
Research28 Oct 2015
Nature

Volume: 527, P: 95-99
Publisher Correction: Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

M. Geoffrey Hayes
Margrit Urbanek
Andrea Dunaif
Amendments and CorrectionsOpen Access28 Apr 2020
Nature Communications

Volume: 11, P: 1
Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

A large-scale epigenome-wide association study identifies changes in DNA methylation associated with body mass index in blood and adipose tissue, and correlates DNA methylation sites with high risk of incident type 2 diabetes.

Simone Wahl
Alexander Drong
John C. Chambers
Research21 Dec 2016
Nature

Volume: 541, P: 81-86
A diary study investigating the differential impacts of Instagram content on youths’ body image

Hannah C. Glaser
Sikke R. Jansma
Hanneke Scholten
ResearchOpen Access28 Mar 2024
Humanities and Social Sciences Communications

Volume: 11, P: 1-13
The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

Ann M. Mc Cartney
Giulio Formenti
Camila J. Mazzoni
ResearchOpen Access17 Sept 2024
npj Biodiversity

Volume: 3, P: 1-17
Migration and differentiation of neural precursors derived from human embryonic stem cells in the rat brain

Viviane Tabar
Georgia Panagiotakos
Lorenz Studer
Research24 Apr 2005
Nature Biotechnology

Volume: 23, P: 601-606
Disruption prediction with artificial intelligence techniques in tokamak plasmas

Tokamak plasmas are prone to sudden collapses that terminate the nuclear fusion reactions. This perspective discusses the prediction of these so-called disruptions with artificial intelligence techniques.

J. Vega
A. Murari
I. Zychor
Reviews06 Jun 2022
Nature Physics

Volume: 18, P: 741-750
Cellular immune function study in an ovarian cancer-prone kindred

G S Schuelke
H T Lynch
W A Albano
Research01 Oct 1982
British Journal of Cancer

Volume: 46, P: 687-693
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Delnaz Roshandel
Eric J. Sanders
Helen Cockerill
ResearchOpen Access28 Sept 2023
npj Genomic Medicine

Volume: 8, P: 1-11
Correction: Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Benjamin F Voight
Laura J Scott
Mark I McCarthy
Amendments and Corrections29 Mar 2011
Nature Genetics

Volume: 43, P: 388
Phase I trial and pharmacokinetics of the tubulin inhibitor 1069C85--a synthetic agent binding at the colchicine site designed to overcome multidrug resistance

I Judson
E Briasoulis
H Lacey
Research01 Feb 1997
British Journal of Cancer

Volume: 75, P: 608-613
Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson’s disease

A new strategy for derivation of human midbrain dopamine neurons from pluripotent cells was developed; transplantation of the neurons in mice, rats and parkinsonian monkeys show they are a promising source of cells for applications in regenerative medicine.

Sonja Kriks
Jae-Won Shim
Lorenz Studer
Research06 Nov 2011
Nature

Volume: 480, P: 547-551
New perspectives on femoroacetabular impingement syndrome

In patients with symptomatic femoroacetabular impingement (FAI), early correction of the anatomical dysfunction could delay or prevent the development of hip osteoarthritis. Accordingly, the past 5 years has seen a huge increase in minimally invasive, arthroscopic correction of FAI and a correspondingly rapid rise in FAI-related research. Khan and colleagues discuss the clinical evidence and emerging concepts of the pathophysiology, biomechanics and management of FAI.

Moin Khan
Asheesh Bedi
Mohit Bhandari
Reviews10 Mar 2016
Nature Reviews Rheumatology

Volume: 12, P: 303-310
Novel loci and biomedical consequences of iron homoeostasis variation

The largest meta-analysis of GWASs of hepcidin and sTfR identified 43 genomic loci, of which 15 new. Mendelian randomisation revealed associations of systemic iron status and iron-related loci with selected health outcomes across multiple domains.

Elias Allara
Steven Bell
Emanuele Di Angelantonio
ResearchOpen Access06 Dec 2024
Communications Biology

Volume: 7, P: 1-17
'Socioeconomic position and survival after cervical cancer: influence of cancer stage, comorbidity and smoking among Danish women diagnosed between 2005 and 2010

E H Ibfelt
S K Kjær
S O Dalton
ResearchOpen Access12 Sept 2013
British Journal of Cancer

Volume: 109, P: 2489-2495
An upper limit on the stochastic gravitational-wave background of cosmological origin

A stochastic background of gravitational waves is expected to arise from a superposition of a large number of unresolved gravitational-wave sources and should carry unique signatures from the earliest epochs of the Universe. Limits on the amplitude of the stochastic gravitational-wave background are now reported using the data from a two-year science run of the Laser Interferometer Gravitational-wave Observatory. These limits rule out certain models of early Universe evolution.

B. P. Abbott
R. Abbott
J. Zweizig
Research20 Aug 2009
Nature

Volume: 460, P: 990-994
Vascular endothelial growth factor-C expression in human prostatic carcinoma and its relationship to lymph node metastasis

T Tsurusaki
S Kanda
T Koji
ResearchOpen Access26 Mar 1999
British Journal of Cancer

Volume: 80, P: 309-313

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