Nature Search

McArdle disease: what do neurologists need to know?

Alejandro Lucia
Gisela Nogales-Gadea
Joaquín Arenas
Reviews01 Oct 2008
Nature Clinical Practice Neurology

Volume: 4, P: 568-577
MYOADENYLATE DEAMINASE DEFICIENCY AND McARDLE'S DISEASE: PLASMA ADENOSINE, INOSINE AND HYPOXANTHINE AFTER ISCHEMIC FOREARM EXERCISE: 196

Sietze P T Sinkeler
Ed M G Joosten
T Li An Oei
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 776
Nature of the Defect in Alcaptonuria

V. G. ZANNONI
J. E. SEEGMILLER
B. N. La DU
Research10 Mar 1962
Nature

Volume: 193, P: 952-953
Demonstration of Super-X divertor exhaust control for transient heat load management in compact fusion reactors

Managing power exhaust in fusion reactors is a key challenge, especially in compact designs for cost-effective commercial energy. This study shows how alternative divertor configurations improve exhaust control, enhance stability, absorb transients and enable independent plasma regulation.

B. Kool
K. Verhaegh
V. Zamkovska
ResearchOpen Access05 Sept 2025
Nature Energy

Volume: 10, P: 1116-1131
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

Jean-Baptiste Noury
Fabien Zagnoli
Fabrice Rannou
ResearchOpen Access01 Jun 2020
Scientific Reports

Volume: 10, P: 1-7
PSD3 downregulation confers protection against fatty liver disease

Employing a candidate gene approach, Mancina et al. identify a genetic variant of the Pleckstrin and Sec7 domain-containing 3 (PSD3) gene that reduces susceptibility to fatty liver disease. Functional studies in vitro and in vivo demonstrate that targeting PSD3 protects against fatty liver disease.

Rosellina M. Mancina
Kavitha Sasidharan
Stefano Romeo
ResearchOpen Access31 Jan 2022
Nature Metabolism

Volume: 4, P: 60-75
Exercise efficiency impairment in metabolic myopathies

Jean-Baptiste Noury
Fabien Zagnoli
Fabrice Rannou
ResearchOpen Access29 May 2020
Scientific Reports

Volume: 10, P: 1-9
Aeronautics at the Imperial College of Science and Technology

G. JACKSON
Research08 Jun 1957
Nature

Volume: 179, P: 1157-1159
Polysome Patterns and Protein Synthesis During the Mitotic Cycle of Physarum Polycephalum

C. MITTERMAYER
R. BRAUN
H. P. RUSCH
Research11 Jun 1966
Nature

Volume: 210, P: 1133-1137
Body composition comparison in two elite female wheelchair athletes

L Lussier
J Knight
A F Morris
Research01 Feb 1983
Spinal Cord

Volume: 21, P: 16-22
Functional striated muscle cells from non-myoblast precursors following 5-azacytidine treatment

PHILIP G. CONSTANTINIDES
PETER A. JONES
WIELAND GEVERS
Research26 May 1977
Nature

Volume: 267, P: 364-366
The relation of ras family oncogene expression to conventional staging criteria and clinical outcome in colorectal carcinoma

I B Kerr
D A Spandidos
C S McArdle
Research01 Feb 1986
British Journal of Cancer

Volume: 53, P: 231-235
Arteriovenous shunting in patients with colorectal liver metastases

JA Goldberg
JAK Thomson
CS McArdle
Research01 Mar 1991
British Journal of Cancer

Volume: 63, P: 466-468
Response to Nogales-Gadea et al.

Mauricio De Castro
Leslie G. Biesecker
Correspondence04 Aug 2015
Genetics in Medicine

Volume: 17, P: 680-681
Preoperative systemic inflammation predicts postoperative infectious complications in patients undergoing curative resection for colorectal cancer

L H Moyes
E F Leitch
D C McMillan
ResearchOpen Access24 Mar 2009
British Journal of Cancer

Volume: 100, P: 1236-1239
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Xihao Li
Han Chen
Xihong Lin
Research07 Feb 2025
Nature Computational Science

Volume: 5, P: 125-143
Synthesis of Pyrazine Cyclic Hydroxamic Acids Related to Aspergillic Acid

GEORGE DUNN
J. A. ELVIDGE
WILFRED SWEENY
Research30 Jul 1949
Nature

Volume: 164, P: 181
Control of Sex Ratio in Mammals

K. G. McWHIRTER
Research20 Oct 1956
Nature

Volume: 178, P: 870-871
An integrated organoid omics map extends modeling potential of kidney disease

Lassé et al. show that genes involved in kidney organoid proteomic response to TNFα segregate a subset of individuals with poor outcomes in proteinuric kidney disease, demonstrating the relevance of kidney organoid modeling to human kidney disease.

Moritz Lassé
Jamal El Saghir
Markus M. Rinschen
ResearchOpen Access14 Aug 2023
Nature Communications

Volume: 14, P: 1-21
Role of nutritional intervention in patients treated with radiotherapy for pelvic malignancy

C McGough
C Baldwin
H J N Andreyev
ResearchOpen Access25 May 2004
British Journal of Cancer

Volume: 90, P: 2278-2287
Lack of Correlation between Conversion by RNA Tumour Viruses and Increased Agglutinability of Cells by Concanavalin A and Wheat Germ Agglutinin

EDDIE G. MOORE
HOWARD M. TEMIN
Research14 May 1971
Nature

Volume: 231, P: 117-118
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Seung Hoan Choi
Sean J. Jurgens
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 548-562
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Ken Ong and colleagues report meta-analysis of 32 genome-wide association studies for age at menarche. They identify 30 loci newly associated with age at menarche, including four that were previously associated with BMI.

Cathy E Elks
John R B Perry
Anna Murray
Research21 Nov 2010
Nature Genetics

Volume: 42, P: 1077-1085
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Multiancestry genome-wide association analyses identify new risk loci for stroke and stroke subtypes. Fine mapping and bioinformatics analyses of these risk loci point to mechanisms not previously implicated in stroke pathophysiology.

Rainer Malik
Ganesh Chauhan
Martin Dichgans
Research12 Mar 2018
Nature Genetics

Volume: 50, P: 524-537
Relationship between receptor and mammary tumour virus production after stimulation by glucocorticoid

G. Shyamala
C. Dickson
Research01 Jul 1976
Nature

Volume: 262, P: 107-112
Perspectives in Organometallic Chemistry

F. G. A. STONE
Research20 Aug 1971
Nature

Volume: 232, P: 534-539
Anti-Ebola virus mAb 3A6 protects highly viremic animals from fatal outcome via binding GP_(1,2) in a position elevated from the virion membrane

Here, combining X-ray crystallography, cryo-electron tomography and animal studies, the authors show that the monoclonal antibody against Ebola virus glycoprotein (GP1,2) 3A6 exerts protection via binds to a conformation of GP1,2 that is lifted from the virion membrane, providing insights into the mechanism of action with implications for the design of anti-Ebola therapeutics.

Kathryn M. Hastie
Zhe Li Salie
Erica Ollmann Saphire
ResearchOpen Access03 Feb 2025
Nature Communications

Volume: 16, P: 1-12
Genomic investigations of unexplained acute hepatitis in children

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Sofia Morfopoulou
Sarah Buddle
Judith Breuer
ResearchOpen Access30 Mar 2023
Nature

Volume: 617, P: 564-573
Slime mould jubilee

G. Turnock
Books & Arts20 Nov 1980
Nature

Volume: 288, P: 307-308
Is nasal adenocarcinoma in the Buckinghamshire furniture industry declining?

E. D. Acheson
P. D. Winter
R. G. Macbeth
Research16 Sept 1982
Nature

Volume: 299, P: 263-265
The relationship between tumour T-lymphocyte infiltration, the systemic inflammatory response and survival in patients undergoing curative resection for colorectal cancer

K Canna
P A McArdle
C S McArdle
ResearchOpen Access08 Feb 2005
British Journal of Cancer

Volume: 92, P: 651-654
Changes in social norms during the early stages of the COVID-19 pandemic across 43 countries

Tightness-looseness theory predicts that social norms strengthen following threat. Here the authors test this and find that, after the emergence of the COVID-19 pandemic, hand washing norms increased, but no evidence was observed for a robust change in most other norms.

Giulia Andrighetto
Aron Szekely
Kimmo Eriksson
ResearchOpen Access16 Feb 2024
Nature Communications

Volume: 15, P: 1-11
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.

Joshua S. Weinstock
Jayakrishnan Gopakumar
Siddhartha Jaiswal
Research12 Apr 2023
Nature

Volume: 616, P: 755-763
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

Miles Parkes
Jeffrey C Barrett
Christopher G Mathew
Research06 Jun 2007
Nature Genetics

Volume: 39, P: 830-832
Biological, clinical and population relevance of 95 loci for blood lipids

Lipid concentration in the serum is one of the most important risk factors for coronary artery disease and can be targeted for therapeutic intervention. A genome-wide association study in >100,000 individuals of European ancestry now finds 95 significantly associated loci that also affect lipid traits in non-European populations. Among associated loci are those involved in cholesterol metabolism, known targets of cholesterol-lowering drugs and those that contribute to normal variation in lipid traits and to extreme lipid phenotypes.

Tanya M. Teslovich
Kiran Musunuru
Sekar Kathiresan
Research05 Aug 2010
Nature

Volume: 466, P: 707-713
Measurements of H₂O₂ and SO₂ in clouds and estimates of their reaction rate

A. S. Chandler
T. W. Choularton
S. A. Penkett
Research08 Dec 1988
Nature

Volume: 336, P: 562-565
Synthesis of fast myosin induced by fast ectopic innervation of rat soleus muscle is restricted to the ectopic endplate region

G. Salviati
E. Biasia
M. Aloisi
Research14 Aug 1986
Nature

Volume: 322, P: 637-639
Neoadjuvant nivolumab and chemotherapy in early estrogen receptor-positive breast cancer: a randomized phase 3 trial

In the CheckMate 7FL trial, neoadjuvant nivolumab and chemotherapy in patients with newly diagnosed, high-risk estrogen receptor-positive breast cancer led to an increased pathological complete response rate compared with neoadjuvant chemotherapy alone, and this increase was associated with immune-related biomarkers and estrogen receptor expression.

Sherene Loi
Roberto Salgado
Heather McArthur
ResearchOpen Access21 Jan 2025
Nature Medicine

Volume: 31, P: 433-441
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.

Anna Köttgen
Eva Albrecht
Christian Gieger
Research23 Dec 2012
Nature Genetics

Volume: 45, P: 145-154
YAP-driven malignant reprogramming of oral epithelial stem cells at single cell resolution

The molecular mechanisms underlying tumour initiation remain elusive. Here, the authors use spatiotemporally controlled oncogene activation and tumour suppressor inhibition with multi-omics to unveil the role of YAP-mediated oral epithelial progenitor cell reprogramming into tumour-initiating cells.

Farhoud Faraji
Sydney I. Ramirez
J. Silvio Gutkind
ResearchOpen Access08 Jan 2025
Nature Communications

Volume: 16, P: 1-20
Defining the role of common variation in the genomic and biological architecture of adult human height

Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

Andrew R Wood
Tonu Esko
Timothy M Frayling
Research05 Oct 2014
Nature Genetics

Volume: 46, P: 1173-1186
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

André Uitterlinden and colleagues report loci at 9q31.2 and LIN28B associated with age at menarche from a meta-analysis of genome-wide association studies including 17,510 females from eight different population-based cohorts.

John R B Perry
Lisette Stolk
Joanne M Murabito
Research17 May 2009
Nature Genetics

Volume: 41, P: 648-650
Field evidence for the oxidation of SO₂ by H₂O₂ in cap clouds

G. P. Gervat
P. A. Clark
T. A. Hill
Research19 May 1988
Nature

Volume: 333, P: 241-243
Phylogenomics and the rise of the angiosperms

Phylogenomic analysis of 7,923 angiosperm species using a standardized set of 353 nuclear genes produced an angiosperm tree of life dated with 200 fossil calibrations, providing key insights into evolutionary relationships and diversification.

Alexandre R. Zuntini
Tom Carruthers
William J. Baker
ResearchOpen Access24 Apr 2024
Nature

Volume: 629, P: 843-850
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of energy balance.

Elizabeth K Speliotes
Cristen J Willer
Ruth J F Loos
Research10 Oct 2010
Nature Genetics

Volume: 42, P: 937-948
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Pierrick Wainschtein
Deepti Jain
Peter M. Visscher
Research07 Mar 2022
Nature Genetics

Volume: 54, P: 263-273
Genetic diversity fuels gene discovery for tobacco and alcohol use

A multi-ancestry meta-regression study analyses diverse genome-wide association studies and genome loci associated with tobacco and alcohol use.

Gretchen R. B. Saunders
Xingyan Wang
Scott Vrieze
ResearchOpen Access07 Dec 2022
Nature

Volume: 612, P: 720-724
Stroke genetics informs drug discovery and risk prediction across ancestries

A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

Aniket Mishra
Rainer Malik
Stephanie Debette
ResearchOpen Access30 Sept 2022
Nature

Volume: 611, P: 115-123
Glycogen storage diseases

This Primer provides a general overview of the epidemiology, diagnosis, pathophysiology and treatment of the glycogen storage diseases. These genetic conditions are characterized by deficits in glycogenesis, glycogenolysis or glycolysis.

William B. Hannah
Terry G. J. Derks
John Vissing
Reviews07 Sept 2023
Nature Reviews Disease Primers

Volume: 9, P: 1-23
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

Pooling participant-level genetic data into a single analysis can result in variance stratification, reducing statistical performance. Here, the authors develop variant-specific inflation factors to assess variance stratification and apply this to pooled individual-level data from whole genome sequencing.

Tamar Sofer
Xiuwen Zheng
Kenneth M. Rice
ResearchOpen Access09 Jun 2021
Nature Communications

Volume: 12, P: 1-14

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